#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	982115	982115	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:982115G>T	ENST00000379370.2	+	18	3300	c.3250G>T	c.(3250-3252)Ggg>Tgg	p.G1084W		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1084	Gly/Ser-rich.|Ser/Thr-rich.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGGCTCTGGGGGTGAGCAGGG	0.672																																							uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(3250-3252)GGG>TGG		agrin precursor							9.0	10.0	10.0					1																	982115		2172	4281	6453	SO:0001630	splice_region_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:982115G>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3250+1G>T	1.37:g.982115G>T							p.G1084W	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	18	3300	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1084			Ser/Thr-rich.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.3250G>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174902	0.57692	.	.	ENSG00000188157	ENST00000379370	T	0.77620	-1.11	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000004	D	0.85995	0.5827	M	0.61703	1.905	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	D	0.86773	0.1974	10	0.49607	T	0.09	-10.2907	16.7302	0.85433	0.0:0.0:1.0:0.0	.	1084	O00468	AGRIN_HUMAN	W	1084	ENSP00000368678:G1084W	ENSP00000368678:G1084W	G	+	1	0	AGRN	971978	1.000000	0.71417	0.981000	0.43875	0.850000	0.48378	4.709000	0.61867	2.248000	0.74166	0.555000	0.69702	GGG		0.672	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	Missense_Mutation	5	5	1	0	0.000602214	0.000602	0.000676645	5	5				
CPSF3L	54973	broad.mit.edu	37	1	1256375	1256375	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:1256375C>A	ENST00000435064.1	-	2	209		c.e2+1		CPSF3L_ENST00000545578.1_Splice_Site|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000419704.1_Splice_Site|CPSF3L_ENST00000411962.1_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000540437.1_Splice_Site|CPSF3L_ENST00000450926.2_Splice_Site	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like						snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AAGGGACTCACGTCGTCATTG	0.652																																							uc001aee.1		NA																	0					0						c.e2+1		cleavage and polyadenylation specific factor							98.0	84.0	89.0					1																	1256375		2201	4300	6501	SO:0001630	splice_region_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1256375C>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.126+1G>T	1.37:g.1256375C>A						CPSF3L_uc001aef.1_Splice_Site_p.D48_splice|CPSF3L_uc009vjz.1_Splice_Site_p.D42_splice|CPSF3L_uc010nyj.1_Splice_Site_p.D13_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Splice_Site_p.D42_splice|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aej.1_Splice_Site_p.T15_splice|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001aem.1_Splice_Site_p.D42_splice|CPSF3L_uc001ael.1_5'UTR|CPSF3L_uc001aen.1_Missense_Mutation_p.V43L	p.D42_splice	NM_017871	NP_060341	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	2	184	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Splice_Site	SNP	ENST00000435064.1	37	c.126_splice	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050650	0.55218	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9022	0.88907	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPSF3L	1246238	1.000000	0.71417	0.943000	0.38184	0.589000	0.36550	5.839000	0.69395	2.196000	0.70406	0.645000	0.84053	.		0.652	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	Intron	16	61	1	0	0.00316338	0.003163	0.00344727	16	61				
ATAD3A	55210	broad.mit.edu	37	1	1463089	1463089	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:1463089T>C	ENST00000378755.5	+	14	1590	c.1496T>C	c.(1495-1497)cTg>cCg	p.L499P	ATAD3A_ENST00000378756.3_Missense_Mutation_p.L451P|ATAD3A_ENST00000536055.1_Missense_Mutation_p.L372P	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	499					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ATGCTGGTCCTGGCCAGCAAC	0.657																																							uc001afz.1		NA																	0				skin(1)	1						c.(1495-1497)CTG>CCG		ATPase family, AAA domain containing 3A							81.0	75.0	77.0					1																	1463089		2203	4300	6503	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1463089T>C	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1496T>C	1.37:g.1463089T>C	ENSP00000368030:p.Leu499Pro					ATAD3A_uc001aga.1_Missense_Mutation_p.L451P|ATAD3A_uc001agb.1_Missense_Mutation_p.L372P	p.L499P	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	14	1590	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	499					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1496T>C	CCDS31.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.058539	0.76074	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055;ENST00000400830	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	4.42	4.42	0.53409	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.97598	0.9213	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.989;0.996	D	0.98507	1.0617	9	.	.	.	.	13.0488	0.58942	0.0:0.0:0.0:1.0	.	451;499	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	P	451;499;128;372;114	ENSP00000368031:L451P;ENSP00000368030:L499P;ENSP00000439290:L372P;ENSP00000383631:L114P	.	L	+	2	0	ATAD3A	1452952	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.972000	0.70448	1.871000	0.54225	0.454000	0.30748	CTG		0.657	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		9	43	0	0	0	0.004482	0	9	43				
CFAP74	85452	broad.mit.edu	37	1	1900241	1900241	+	IGR	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:1900241G>T								TMEM52 (49529 upstream) : C1orf222 (19321 downstream)																							ATGATCTCCTGCTTTCTGAGC	0.577																																							uc001aim.1		NA																	0				pancreas(1)	1						c.(1078-1080)CAG>AAG		hypothetical protein LOC85452							118.0	125.0	123.0					1																	1900241		2029	4175	6204	SO:0001628	intergenic_variant	85452							g.chr1:1900241G>T																													1.37:g.1900241G>T						KIAA1751_uc009vkz.1_Missense_Mutation_p.Q360K	p.Q360K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	11	1234	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	360			Potential.			Missense_Mutation	SNP		37	c.1078C>A		.	.	.	.	.	.	.	.	.	.	g	11.86	1.764234	0.31228	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.67	1.71	0.24356	.	1.208120	0.05975	N	0.643169	T	0.52517	0.1739	M	0.67953	2.075	0.09310	N	0.999997	D;D	0.62365	0.991;0.983	P;P	0.56751	0.805;0.689	T	0.37549	-0.9701	9	0.21540	T	0.41	-5.0975	6.1971	0.20555	0.1134:0.1971:0.6895:0.0	.	360;360	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	K	360	.	ENSP00000270720:Q360K	Q	-	1	0	C1orf222	1890101	0.073000	0.21202	0.141000	0.22245	0.345000	0.29048	0.798000	0.27014	0.802000	0.34089	0.556000	0.70494	CAG	0	0.577									18	53	1	0	3.51602e-12	0.008871	5.67099e-12	18	53				
PRDM16	63976	broad.mit.edu	37	1	3328481	3328481	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:3328481G>C	ENST00000270722.5	+	9	1769	c.1720G>C	c.(1720-1722)Ggg>Cgg	p.G574R	PRDM16_ENST00000378391.2_Missense_Mutation_p.G574R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G574R|PRDM16_ENST00000378398.3_Missense_Mutation_p.G575R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G575R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G575R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G574R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	574					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCAGCTGCGGGGCCCGAGGA	0.667			T	EVI1	"""MDS, AML"""																																		uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1720-1722)GGG>CGG		PR domain containing 16 isoform 1							29.0	38.0	35.0					1																	3328481		2065	4203	6268	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328481G>C	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1720G>C	1.37:g.3328481G>C	ENSP00000270722:p.Gly574Arg					PRDM16_uc001akc.2_Missense_Mutation_p.G574R|PRDM16_uc001akd.2_Missense_Mutation_p.G574R|PRDM16_uc001ake.2_Missense_Mutation_p.G574R|PRDM16_uc009vlh.2_Missense_Mutation_p.G275R	p.G574R	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	9	1800	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	574					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1720G>C	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	9.923	1.212735	0.22289	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05925	3.4;3.41;3.43;3.44;3.42;3.42;3.42;3.37;3.37	3.94	3.94	0.45596	.	.	.	.	.	T	0.14874	0.0359	L	0.59436	1.845	0.09310	N	1	B;D;P;D	0.60575	0.075;0.986;0.919;0.988	B;P;P;P	0.54026	0.028;0.691;0.483;0.74	T	0.03287	-1.1052	9	0.87932	D	0	.	11.8329	0.52305	0.0:0.0:1.0:0.0	.	574;574;574;574	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	R	575;575;574;574;574;575;574;390;390;383	ENSP00000426975:G575R;ENSP00000367651:G575R;ENSP00000407968:G574R;ENSP00000405253:G574R;ENSP00000367643:G574R;ENSP00000421400:G575R;ENSP00000270722:G574R;ENSP00000422504:G390R;ENSP00000425796:G383R	ENSP00000270722:G574R	G	+	1	0	PRDM16	3318341	0.998000	0.40836	0.096000	0.21009	0.003000	0.03518	3.914000	0.56401	2.526000	0.85167	0.603000	0.83216	GGG		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		22	15	0	0	0	0.002299	0	22	15				
NPHP4	261734	broad.mit.edu	37	1	5927116	5927116	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:5927116T>A	ENST00000378156.4	-	25	3797	c.3532A>T	c.(3532-3534)Aac>Tac	p.N1178Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1178					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGATGACGTTCGGGTCGCTG	0.602																																							uc001alq.1		NA																	0				pancreas(1)	1						c.(3532-3534)AAC>TAC		nephroretinin							47.0	54.0	52.0					1																	5927116		2055	4180	6235	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5927116T>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3532A>T	1.37:g.5927116T>A	ENSP00000367398:p.Asn1178Tyr					NPHP4_uc001alr.1_Missense_Mutation_p.N120Y	p.N1178Y	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	25	3798	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1178					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.3532A>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417655	0.42918	.	.	ENSG00000131697	ENST00000378156	T	0.75260	-0.92	5.91	3.53	0.40419	.	0.122641	0.51477	N	0.000097	D	0.82472	0.5044	M	0.76328	2.33	0.48696	D	0.999698	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.80369	-0.1411	10	0.87932	D	0	.	5.6237	0.17470	0.1265:0.1477:0.0:0.7258	.	120;1178	Q6ZSL3;O75161	.;NPHP4_HUMAN	Y	1178	ENSP00000367398:N1178Y	ENSP00000367398:N1178Y	N	-	1	0	NPHP4	5849703	0.994000	0.37717	0.006000	0.13384	0.087000	0.18053	2.458000	0.45014	0.447000	0.26695	0.533000	0.62120	AAC		0.602	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			5	5	0	0	0	0.001168	0	5	5				
KCNAB2	8514	broad.mit.edu	37	1	6142306	6142306	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:6142306G>C	ENST00000164247.1	+	6	817	c.253G>C	c.(253-255)Gat>Cat	p.D85H	KCNAB2_ENST00000378087.3_Missense_Mutation_p.D85H|KCNAB2_ENST00000341524.1_Missense_Mutation_p.D85H|KCNAB2_ENST00000378097.1_Missense_Mutation_p.D85H|KCNAB2_ENST00000378083.3_Missense_Mutation_p.D118H|KCNAB2_ENST00000378092.1_Missense_Mutation_p.D71H|KCNAB2_ENST00000458166.2_Missense_Mutation_p.D18H|KCNAB2_ENST00000352527.1_Missense_Mutation_p.D71H|KCNAB2_ENST00000602612.1_Missense_Mutation_p.D85H|KCNAB2_ENST00000378111.1_Missense_Mutation_p.D85H	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	85					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.D85N(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCTTCGATACAGCAGA	0.557																																							uc009vlv.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(253-255)GAT>CAT		potassium voltage-gated channel, shaker-related							130.0	116.0	121.0					1																	6142306		2203	4300	6503	SO:0001583	missense	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6142306G>C	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.253G>C	1.37:g.6142306G>C	ENSP00000164247:p.Asp85His					KCNAB2_uc001alv.1_Missense_Mutation_p.D85H|KCNAB2_uc001alw.1_Missense_Mutation_p.D71H|KCNAB2_uc001alx.1_Missense_Mutation_p.D85H|KCNAB2_uc001aly.1_Missense_Mutation_p.D118H|KCNAB2_uc009vlw.1_Missense_Mutation_p.D18H|KCNAB2_uc001alu.2_Missense_Mutation_p.D85H	p.D85H	NM_003636	NP_003627	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	6	388	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	85				NADP.	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	c.253G>C	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262668	0.80358	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000352527;ENST00000435937;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.33	5.33	0.75918	NADP-dependent oxidoreductase domain (3);	0.043918	0.85682	D	0.000000	D	0.89301	0.6676	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	0.999;0.991;0.987;1.0	D;D;D;D	0.97110	0.994;0.925;0.929;1.0	D	0.93435	0.6789	10	0.87932	D	0	-8.4899	17.5837	0.87974	0.0:0.0:1.0:0.0	.	118;71;85;85	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	H	85;85;71;71;85;85;85;71;71;85;118;18	ENSP00000367351:D85H;ENSP00000367337:D85H;ENSP00000367332:D71H;ENSP00000400285:D71H;ENSP00000374283:D85H;ENSP00000367327:D85H;ENSP00000340824:D85H;ENSP00000318772:D71H;ENSP00000389151:D71H;ENSP00000164247:D85H;ENSP00000367323:D118H;ENSP00000396167:D18H	ENSP00000164247:D85H	D	+	1	0	KCNAB2	6064893	1.000000	0.71417	0.764000	0.31436	0.899000	0.52679	8.470000	0.90399	2.482000	0.83794	0.563000	0.77884	GAT		0.557	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		24	75	0	0	0	0.005443	0	24	75				
SLC2A5	6518	broad.mit.edu	37	1	9098496	9098496	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:9098496C>A	ENST00000377424.4	-	10	1347	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	SLC2A5_ENST00000535586.1_Missense_Mutation_p.G275W|SLC2A5_ENST00000536305.1_Missense_Mutation_p.G331W	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	390					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTGGGCCCGAGGGCATGT	0.572																																							uc001apo.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1168-1170)GGG>TGG		solute carrier family 2 (facilitated							114.0	102.0	106.0					1																	9098496		2203	4300	6503	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9098496C>A	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1168G>T	1.37:g.9098496C>A	ENSP00000366641:p.Gly390Trp					SLC2A5_uc010nzy.1_Missense_Mutation_p.G331W|SLC2A5_uc010nzz.1_Missense_Mutation_p.G275W|SLC2A5_uc010oaa.1_Missense_Mutation_p.G346W|SLC2A5_uc010oab.1_Missense_Mutation_p.G390W	p.G390W	NM_003039	NP_003030	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	10	1460	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	390			Cytoplasmic (Potential).		Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.1168G>T	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523684	0.64747	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.61158	0.13;0.13;0.13	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91944	0.5565	10	0.87932	D	0	.	17.6333	0.88115	0.0:1.0:0.0:0.0	.	346;331;390	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	W	390;373;331;275	ENSP00000366641:G390W;ENSP00000440688:G331W;ENSP00000442744:G275W	ENSP00000366641:G390W	G	-	1	0	SLC2A5	9021083	1.000000	0.71417	0.881000	0.34555	0.017000	0.09413	7.410000	0.80065	2.507000	0.84556	0.655000	0.94253	GGG		0.572	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		22	45	1	0	2.21704e-12	0.00278	3.61011e-12	22	45				
CASZ1	54897	broad.mit.edu	37	1	10711081	10711081	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:10711081C>A	ENST00000377022.3	-	12	3050	c.2733G>T	c.(2731-2733)ccG>ccT	p.P911P	CASZ1_ENST00000344008.5_Silent_p.P911P|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	911					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CACCGGGTTCCGGCTTCACTT	0.701																																							uc001aro.2		NA																	0				skin(1)	1						c.(2731-2733)CCG>CCT		castor homolog 1, zinc finger isoform a							9.0	13.0	12.0					1																	10711081		2177	4284	6461	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10711081C>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2733G>T	1.37:g.10711081C>A						CASZ1_uc001arp.1_Silent_p.P911P	p.P911P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	12	3053	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	911					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2733G>T	CCDS41246.1																																																																																				0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		3	16	1	0	6.4e-05	0.004672	7.65288e-05	3	16				
MTOR	2475	broad.mit.edu	37	1	11194472	11194472	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:11194472C>A	ENST00000361445.4	-	37	5258	c.5182G>T	c.(5182-5184)Gcc>Tcc	p.A1728S	MTOR_ENST00000376838.1_5'Flank|MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1728	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCATGCTGGGCCTGTTGCTGC	0.562																																							uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(5182-5184)GCC>TCC		FK506 binding protein 12-rapamycin associated							196.0	144.0	162.0					1																	11194472		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11194472C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5182G>T	1.37:g.11194472C>A	ENSP00000354558:p.Ala1728Ser					MTOR_uc001asc.2_5'Flank	p.A1728S	NM_004958	NP_004949	P42345	MTOR_HUMAN			37	5303	-			1728			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5182G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800025	0.31869	.	.	ENSG00000198793	ENST00000361445	T	0.68903	-0.36	4.91	4.91	0.64330	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	L	0.28054	0.825	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.67181	-0.5735	10	0.20519	T	0.43	-11.792	18.4857	0.90828	0.0:1.0:0.0:0.0	.	1728	P42345	MTOR_HUMAN	S	1728	ENSP00000354558:A1728S	ENSP00000354558:A1728S	A	-	1	0	MTOR	11117059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.434000	0.82447	0.655000	0.94253	GCC		0.562	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		48	34	1	0	6.3008e-33	0.00361	1.21444e-32	48	34				
VPS13D	55187	broad.mit.edu	37	1	12374349	12374349	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:12374349C>A	ENST00000358136.3	+	30	7243	c.7113C>A	c.(7111-7113)acC>acA	p.T2371T	VPS13D_ENST00000356315.4_Silent_p.T2371T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGCAGCACCACCCAAGGGT	0.507																																							uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(7111-7113)ACC>ACA		vacuolar protein sorting 13D isoform 1							135.0	111.0	119.0					1																	12374349		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12374349C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7113C>A	1.37:g.12374349C>A						VPS13D_uc001atw.2_Silent_p.T2371T|VPS13D_uc001atx.2_Silent_p.T1559T|VPS13D_uc001aty.1_Silent_p.T109T	p.T2371T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	30	7254	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2371						Silent	SNP	ENST00000358136.3	37	c.7113C>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.274002	0.01421	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.39117	D	0.96159	.	.	.	.	.	.	T	0.58411	-0.7641	4	.	.	.	.	9.8401	0.40993	0.0754:0.5912:0.0705:0.263	.	.	.	.	Q	1194	.	.	P	+	2	0	VPS13D	12296936	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-3.841000	0.00353	-1.864000	0.01148	-0.367000	0.07326	CCA		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		12	16	1	0	2.27111e-07	0.001368	3.08624e-07	12	16				
PRAMEF1	65121	broad.mit.edu	37	1	12853545	12853545	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:12853545C>A	ENST00000332296.7	+	2	272	c.169C>A	c.(169-171)Cag>Aag	p.Q57K	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGATGGTTCAGGCCTGGCC	0.547																																							uc001auj.1		NA																	0					0						c.(169-171)CAG>AAG		PRAME family member 1							148.0	154.0	152.0					1																	12853545		2203	4297	6500	SO:0001583	missense	65121							g.chr1:12853545C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.169C>A	1.37:g.12853545C>A	ENSP00000332134:p.Gln57Lys						p.Q57K	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	272	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	57					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.169C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.24	1.578938	0.28180	.	.	ENSG00000116721	ENST00000332296	T	0.13307	2.6	1.82	-1.49	0.08718	.	0.518635	0.19358	N	0.116219	T	0.15003	0.0362	L	0.60012	1.86	0.09310	N	1	D	0.54207	0.965	P	0.49887	0.625	T	0.14448	-1.0472	10	0.30078	T	0.28	.	5.1444	0.14977	0.0:0.4011:0.0:0.5989	.	57	O95521	PRAM1_HUMAN	K	57	ENSP00000332134:Q57K	ENSP00000332134:Q57K	Q	+	1	0	PRAMEF1	12776132	0.006000	0.16342	0.001000	0.08648	0.004000	0.04260	-0.609000	0.05635	-0.432000	0.07297	-0.336000	0.08194	CAG		0.547	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		20	165	1	0	1.00905e-13	0.008871	1.69003e-13	20	165				
SPEN	23013	broad.mit.edu	37	1	16257201	16257201	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:16257201C>G	ENST00000375759.3	+	11	4670	c.4466C>G	c.(4465-4467)cCt>cGt	p.P1489R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1489					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTCCAAGACCTATTCCATCC	0.378																																							uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(4465-4467)CCT>CGT		spen homolog, transcriptional regulator							60.0	65.0	63.0					1																	16257201		2202	4300	6502	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257201C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4466C>G	1.37:g.16257201C>G	ENSP00000364912:p.Pro1489Arg					SPEN_uc010obp.1_Missense_Mutation_p.P1448R	p.P1489R	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4670	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1489					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.4466C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959781	0.34565	.	.	ENSG00000065526	ENST00000375759	T	0.48522	0.81	5.27	4.35	0.52113	.	.	.	.	.	T	0.57140	0.2033	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.61787	-0.6991	9	0.66056	D	0.02	-15.0896	15.3609	0.74472	0.1407:0.8593:0.0:0.0	.	1489	Q96T58	MINT_HUMAN	R	1489	ENSP00000364912:P1489R	ENSP00000364912:P1489R	P	+	2	0	SPEN	16129788	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.273000	0.78527	1.440000	0.47531	-0.311000	0.09066	CCT		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		14	29	0	0	0	0.001855	0	14	29				
NBPF1	55672	broad.mit.edu	37	1	16893836	16893836	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:16893836C>T	ENST00000430580.2	-	25	3564	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Missense_Mutation_p.G296E	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	893	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCCAGCAGCTCCCTGCTGAGC	0.483																																							uc009vos.1		NA																	0					0						c.(2902-2904)GAG>AAG		hypothetical protein LOC55672							264.0	242.0	250.0					1																	16893836		2202	4280	6482	SO:0001583	missense	55672					cytoplasm		g.chr1:16893836C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2677G>A	1.37:g.16893836C>T	ENSP00000474456:p.Glu893Lys					NBPF1_uc009vot.1_Missense_Mutation_p.E351K|NBPF1_uc001ayz.1_Missense_Mutation_p.E351K|NBPF1_uc010oce.1_Missense_Mutation_p.E622K	p.E968K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3790	-			968			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2902G>A																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		28	719	0	0	0	0.003271	0	28	719				
NBPF1	55672	broad.mit.edu	37	1	16901707	16901707	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:16901707C>T	ENST00000430580.2	-	20	3024	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000432949.1_Missense_Mutation_p.D171N|NBPF1_ENST00000287968.8_Missense_Mutation_p.D78N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	713	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACATCTTCATCGTCATCGTTG	0.433																																							uc009vos.1		NA																	0					0						c.(2137-2139)GAT>AAT		hypothetical protein LOC55672							157.0	185.0	175.0					1																	16901707		1471	2580	4051	SO:0001583	missense	55672					cytoplasm		g.chr1:16901707C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2137G>A	1.37:g.16901707C>T	ENSP00000474456:p.Asp713Asn					NBPF1_uc009vot.1_Missense_Mutation_p.D171N|NBPF1_uc001ayz.1_Missense_Mutation_p.D171N|NBPF1_uc010oce.1_Missense_Mutation_p.D442N	p.D713N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	20	3025	-			713			NBPF 3.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2137G>A																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		6	372	0	0	0	0.006214	0	6	372				
CROCC	9696	broad.mit.edu	37	1	17292337	17292337	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:17292337G>C	ENST00000375541.5	+	28	4594	c.4525G>C	c.(4525-4527)Ggg>Cgg	p.G1509R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCAGTGCGCGGGGCCCTCCG	0.672																																							uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(4525-4527)GGG>CGG		ciliary rootlet coiled-coil							26.0	29.0	28.0					1																	17292337		2202	4297	6499	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17292337G>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4525G>C	1.37:g.17292337G>C	ENSP00000364691:p.Gly1509Arg					CROCC_uc001azu.2_Missense_Mutation_p.G812R|CROCC_uc001azv.2_5'Flank	p.G1509R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	28	4594	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1509			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.4525G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	3.576	-0.086521	0.07097	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.77620	-1.11	4.27	1.3	0.21679	.	.	.	.	.	T	0.75700	0.3885	L	0.36672	1.1	0.09310	N	1	P;P	0.49635	0.592;0.926	B;P	0.59056	0.314;0.851	T	0.62895	-0.6757	9	0.16420	T	0.52	.	7.6554	0.28373	0.2955:0.0:0.7045:0.0	.	812;1509	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	R	1509;1390	ENSP00000364691:G1509R	ENSP00000364691:G1509R	G	+	1	0	CROCC	17164924	0.047000	0.20315	0.018000	0.16275	0.116000	0.19942	2.499000	0.45372	0.051000	0.15978	0.579000	0.79373	GGG		0.672	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		14	26	0	0	0	0.00245	0	14	26				
ARHGEF10L	55160	broad.mit.edu	37	1	18023766	18023766	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:18023766G>T	ENST00000361221.3	+	29	3890	c.3731G>T	c.(3730-3732)gGg>gTg	p.G1244V	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G1205V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G1017V|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G947V|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G1205V	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1244						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCTCCGGCGGGCAGGGCTAC	0.687																																							uc001ban.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(3730-3732)GGG>GTG		Rho guanine nucleotide exchange factor (GEF)							39.0	39.0	39.0					1																	18023766		2198	4274	6472	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023766G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3731G>T	1.37:g.18023766G>T	ENSP00000355060:p.Gly1244Val					ARHGEF10L_uc001bao.2_Missense_Mutation_p.G1205V|ARHGEF10L_uc001bap.2_Missense_Mutation_p.G1200V|ARHGEF10L_uc001baq.2_Missense_Mutation_p.G1005V|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.G1017V|ARHGEF10L_uc001bar.2_Missense_Mutation_p.G947V|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.G268V	p.G1244V	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3890	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1244					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3731G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850527	0.71719	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;D;T	0.81499	-1.26;-0.99;-0.99;-1.5;0.76	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	D	0.89326	0.6683	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.90721	0.4635	10	0.87932	D	0	-23.4467	15.016	0.71584	0.0:0.0:1.0:0.0	.	1017;947;1005;1200;1205;1244	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	V	1244;1205;1205;1017;947	ENSP00000355060:G1244V;ENSP00000399401:G1205V;ENSP00000364564:G1205V;ENSP00000364557:G1017V;ENSP00000167825:G947V	ENSP00000167825:G947V	G	+	2	0	ARHGEF10L	17896353	1.000000	0.71417	0.716000	0.30569	0.659000	0.38960	7.120000	0.77153	2.294000	0.77228	0.655000	0.94253	GGG		0.687	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		29	20	1	0	6.38683e-12	0.008361	1.02334e-11	29	20				
HTR6	3362	broad.mit.edu	37	1	19992779	19992779	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:19992779G>C	ENST00000289753.1	+	1	1000	c.533G>C	c.(532-534)gGc>gCc	p.G178A		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	178					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCCGTCCCTGGCCAGTGCCGC	0.692																																					Esophageal Squamous(168;1879 2619 6848 21062)	Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	0				ovary(1)	1						c.(532-534)GGC>GCC		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						34.0	37.0	36.0					1																	19992779		2202	4299	6501	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992779G>C	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.533G>C	1.37:g.19992779G>C	ENSP00000289753:p.Gly178Ala						p.G178A	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	1000	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	178			Extracellular (By similarity).		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.533G>C	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	4.152	0.026651	0.08054	.	.	ENSG00000158748	ENST00000289753	T	0.71817	-0.6	4.11	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.559519	0.19327	N	0.116997	T	0.58104	0.2099	L	0.39566	1.225	0.21256	N	0.999749	P	0.39576	0.679	B	0.34991	0.193	T	0.46484	-0.9188	9	.	.	.	.	12.0192	0.53333	0.0:0.0:0.8254:0.1746	.	178	P50406	5HT6R_HUMAN	A	178	ENSP00000289753:G178A	.	G	+	2	0	HTR6	19865366	1.000000	0.71417	0.513000	0.27749	0.133000	0.20885	3.911000	0.56378	0.828000	0.34709	0.491000	0.48974	GGC		0.692	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		9	37	0	0	0	0.006214	0	9	37				
MUL1	79594	broad.mit.edu	37	1	20828626	20828626	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:20828626C>T	ENST00000264198.3	-	3	401	c.265G>A	c.(265-267)Ggg>Agg	p.G89R		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	89					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TGAATTACCCCCTTGCAGTTT	0.463																																							uc001bdi.3		NA																	0					0						c.(265-267)GGG>AGG		mitochondrial ubiquitin ligase activator of NFKB							124.0	121.0	122.0					1																	20828626		2203	4300	6503	SO:0001583	missense	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20828626C>T	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.265G>A	1.37:g.20828626C>T	ENSP00000264198:p.Gly89Arg						p.G89R	NM_024544	NP_078820	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	422	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	89			Mitochondrial intermembrane (Potential).		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	c.265G>A	CCDS208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427272	0.96131	.	.	ENSG00000090432	ENST00000264198	T	0.29397	1.57	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60161	-0.7317	10	0.87932	D	0	-44.0533	18.3732	0.90420	0.0:1.0:0.0:0.0	.	89	Q969V5	MUL1_HUMAN	R	89	ENSP00000264198:G89R	ENSP00000264198:G89R	G	-	1	0	MUL1	20701213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.382000	0.79729	2.941000	0.99782	0.655000	0.94253	GGG		0.463	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		4	76	0	0	0	0.009096	0	4	76				
CDA	978	broad.mit.edu	37	1	20915674	20915674	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:20915674C>T	ENST00000375071.3	+	1	234	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	18	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGTCCAGCAGCTGCTGGTTTG	0.627																																					Pancreas(74;49 1356 2772 27818 40529)	Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.2		NA																	0				ovary(1)	1						c.(52-54)CTG>TTG		cytidine deaminase	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						72.0	64.0	67.0					1																	20915674		2203	4300	6503	SO:0001819	synonymous_variant	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20915674C>T	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.52C>T	1.37:g.20915674C>T						CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA	p.L18L	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	1	231	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	18						Silent	SNP	ENST00000375071.3	37	c.52C>T	CCDS210.1																																																																																				0.627	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		8	42	0	0	0	0.006214	0	8	42				
KIF17	57576	broad.mit.edu	37	1	21031213	21031213	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:21031213G>A	ENST00000247986.2	-	5	1160	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	KIF17_ENST00000400463.3_Missense_Mutation_p.H284Y|KIF17_ENST00000375044.1_Missense_Mutation_p.H184Y			Q9P2E2	KIF17_HUMAN	kinesin family member 17	284	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TAGGGGACGTGCTTACAGCGC	0.662																																							uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(850-852)CAC>TAC		kinesin family member 17 isoform a							82.0	77.0	79.0					1																	21031213		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031213G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.850C>T	1.37:g.21031213G>A	ENSP00000247986:p.His284Tyr					KIF17_uc001bds.3_Missense_Mutation_p.H284Y	p.H284Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	968	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	284					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.850C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101979	0.76983	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.75050	-0.9;-0.9;-0.9	5.11	5.11	0.69529	Kinesin, motor domain (3);	0.000000	0.34291	U	0.004096	D	0.87026	0.6075	M	0.87617	2.895	0.49213	D	0.999763	D;D	0.62365	0.968;0.991	P;P	0.62813	0.795;0.907	D	0.88293	0.2944	10	0.51188	T	0.08	.	17.8832	0.88846	0.0:0.0:1.0:0.0	.	284;284	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Y	184;284;284	ENSP00000364184:H184Y;ENSP00000383311:H284Y;ENSP00000247986:H284Y	ENSP00000247986:H284Y	H	-	1	0	KIF17	20903800	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	5.345000	0.65987	2.554000	0.86153	0.462000	0.41574	CAC		0.662	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		11	77	0	0	0	0.001368	0	11	77				
RAP1GAP	5909	broad.mit.edu	37	1	21928224	21928224	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:21928224C>T	ENST00000374765.4	-	20	1805	c.1605G>A	c.(1603-1605)gaG>gaA	p.E535E	RAP1GAP_ENST00000374761.2_Silent_p.E566E|RAP1GAP_ENST00000374763.2_Silent_p.E620E|RAP1GAP_ENST00000542643.2_Silent_p.E561E|RAP1GAP_ENST00000290101.4_Silent_p.E599E	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	535					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGATGAGTTCTCCGACTTGG	0.662																																							uc001bex.2		NA																	0				breast(2)|ovary(1)	3						c.(1603-1605)GAG>GAA		RAP1 GTPase activating protein isoform c							95.0	87.0	90.0					1																	21928224		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21928224C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1605G>A	1.37:g.21928224C>T						RAP1GAP_uc001bev.2_Silent_p.E620E|RAP1GAP_uc001bew.2_Silent_p.E599E|RAP1GAP_uc001bey.2_Silent_p.E561E	p.E535E	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	20	1863	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	535					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.1605G>A	CCDS218.1																																																																																				0.662	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		4	32	0	0	0	0.009096	0	4	32				
C1QB	713	broad.mit.edu	37	1	22987440	22987440	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:22987440G>T	ENST00000314933.6	+	3	455	c.323G>T	c.(322-324)gGc>gTc	p.G108V	C1QB_ENST00000509305.1_Missense_Mutation_p.G106V	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	108	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGCCCCAGGCCCCAAAGGT	0.637																																							uc001bgd.2		NA																	0				breast(1)	1						c.(322-324)GGC>GTC		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						57.0	61.0	60.0					1																	22987440		2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987440G>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.323G>T	1.37:g.22987440G>T	ENSP00000313967:p.Gly108Val						p.G108V	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	455	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	108			Collagen-like 2.		Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.323G>T	CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274398	0.59649	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96726	0.9536	10	0.87932	D	0	.	17.6906	0.88268	0.0:0.0:1.0:0.0	.	108	P02746	C1QB_HUMAN	V	106;106;106;108	ENSP00000426317:G106V;ENSP00000423689:G106V;ENSP00000404606:G106V;ENSP00000313967:G108V	ENSP00000313967:G108V	G	+	2	0	C1QB	22860027	1.000000	0.71417	0.968000	0.41197	0.365000	0.29674	6.829000	0.75314	2.596000	0.87737	0.561000	0.74099	GGC		0.637	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		17	47	1	0	9.16793e-09	0.00499	1.32869e-08	17	47				
HNRNPR	10236	broad.mit.edu	37	1	23637164	23637164	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:23637164C>A	ENST00000374612.1	-	11	1808	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	HNRNPR_ENST00000426846.2_Missense_Mutation_p.R402L|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R562L|HNRNPR_ENST00000478691.1_Missense_Mutation_p.R464L|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R423L|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R565L|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R524L|HNRNPR_ENST00000476660.1_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	562	RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R562Q(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ACGATTGCCCCGAGATCCACG	0.587																																							uc001bgr.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1684-1686)CGG>CTG		heterogeneous nuclear ribonucleoprotein R							134.0	122.0	126.0					1																	23637164		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637164C>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1685G>T	1.37:g.23637164C>A	ENSP00000363741:p.Arg562Leu					HNRNPR_uc001bgo.2_Missense_Mutation_p.R172L|HNRNPR_uc001bgp.3_Missense_Mutation_p.R565L|HNRNPR_uc009vqk.2_Missense_Mutation_p.R464L|HNRNPR_uc001bgs.3_Missense_Mutation_p.R461L|HNRNPR_uc010odw.1_Missense_Mutation_p.R524L|HNRNPR_uc010odx.1_Missense_Mutation_p.R402L|HNRNPR_uc009vql.2_Missense_Mutation_p.R423L	p.R562L	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	11	1844	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	562			RNA-binding RGG-box.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.1685G>T	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098137	0.37048	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.22134	1.97;1.99;1.99;2.27;2.82	5.21	4.3	0.51218	.	0.052589	0.64402	D	0.000001	T	0.26666	0.0652	M	0.83012	2.62	0.54753	D	0.999984	B;B;B;B;B;P	0.35226	0.358;0.358;0.159;0.358;0.358;0.491	B;B;B;B;B;B	0.29176	0.046;0.046;0.046;0.046;0.046;0.099	T	0.11966	-1.0566	10	0.51188	T	0.08	-2.8777	12.373	0.55265	0.0:0.9186:0.0:0.0814	.	402;524;423;542;562;565	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	L	565;562;562;524;402	ENSP00000363745:R565L;ENSP00000363741:R562L;ENSP00000304405:R562L;ENSP00000392799:R524L;ENSP00000415042:R402L	ENSP00000304405:R562L	R	-	2	0	HNRNPR	23509751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.677000	0.61634	1.429000	0.47314	0.650000	0.86243	CGG		0.587	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		14	66	1	0	0.00244969	0.00245	0.00268503	14	66				
SYTL1	84958	broad.mit.edu	37	1	27677381	27677381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:27677381G>T	ENST00000543823.1	+	10	1564	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Nonsense_Mutation_p.E356*			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	368	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCGAAGTTGAAGTGCCCCT	0.692																																							uc001bnw.1		NA																	0				ovary(1)	1						c.(1102-1104)GAA>TAA		synaptotagmin-like 1							68.0	59.0	62.0					1																	27677381		2203	4300	6503	SO:0001587	stop_gained	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27677381G>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1102G>T	1.37:g.27677381G>T	ENSP00000440704:p.Glu368*					SYTL1_uc001bnv.1_Nonsense_Mutation_p.E356*|SYTL1_uc009vsu.1_Intron|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Nonsense_Mutation_p.E368*	p.E368*	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	11	1269	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	368			C2 1.		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Nonsense_Mutation	SNP	ENST00000543823.1	37	c.1102G>T	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.779541|6.779541	0.97833|0.97833	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269|ENST00000496001	.|.	.|.	.|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.053052|.	0.64402|.	D|.	0.000001|.	.|T	.|0.71324	.|0.3326	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75079	.|-0.3444	.|3	0.87932|.	D|.	0|.	-8.1414|-8.1414	16.1755|16.1755	0.81847|0.81847	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	356;368;121|215	.|.	ENSP00000316464:E356X|.	E|L	+|+	1|3	0|2	SYTL1|SYTL1	27549968|27549968	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.044000|0.044000	0.14063|0.14063	5.409000|5.409000	0.66374|0.66374	2.337000|2.337000	0.79520|0.79520	0.456000|0.456000	0.33151|0.33151	GAA|TTG		0.692	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		11	40	1	0	3.86212e-05	0.008291	4.67636e-05	11	40				
DNAJC8	22826	broad.mit.edu	37	1	28527766	28527766	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:28527766C>A	ENST00000263697.4	-	9	781	c.755G>T	c.(754-756)cGt>cTt	p.R252L	DNAJC8_ENST00000489277.1_5'UTR|AL353354.1_ENST00000321830.5_5'Flank	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	252					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTCACTCACGTTGCTCCAT	0.512																																							uc001bpn.2		NA																	0					0						c.(754-756)CGT>CTT		DnaJ (Hsp40) homolog, subfamily C, member 8							201.0	205.0	204.0					1																	28527766		1960	4129	6089	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28527766C>A	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.755G>T	1.37:g.28527766C>A	ENSP00000263697:p.Arg252Leu					DNAJC8_uc001bpo.2_RNA	p.R252L	NM_014280	NP_055095	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	9	788	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	252					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.755G>T	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.441885	0.63067	.	.	ENSG00000126698	ENST00000263697	T	0.71934	-0.61	5.1	4.19	0.49359	.	0.133550	0.50627	N	0.000111	D	0.83871	0.5348	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86103	0.1557	10	0.87932	D	0	-0.1055	13.8391	0.63428	0.0:0.9257:0.0:0.0743	.	252	O75937	DNJC8_HUMAN	L	252	ENSP00000263697:R252L	ENSP00000263697:R252L	R	-	2	0	DNAJC8	28400353	1.000000	0.71417	0.998000	0.56505	0.438000	0.31896	5.785000	0.68998	1.146000	0.42352	-0.243000	0.11985	CGT		0.512	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		20	106	1	0	1.96292e-10	0.010504	3.00899e-10	20	106				
SESN2	83667	broad.mit.edu	37	1	28598184	28598184	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:28598184G>T	ENST00000253063.3	+	3	477		c.e3-1			NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2						autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTTGGCAGGTCCTTCGGG	0.567																																							uc001bps.2		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.e3-1		sestrin 2							49.0	52.0	51.0					1																	28598184		2203	4300	6503	SO:0001630	splice_region_variant	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28598184G>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.157-1G>T	1.37:g.28598184G>T							p.V53_splice	NM_031459	NP_113647	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	3	510	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)						Q5T7D0|Q96SI5	Splice_Site	SNP	ENST00000253063.3	37	c.157_splice	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996454	0.74818	.	.	ENSG00000130766	ENST00000253063	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6073	0.88041	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SESN2	28470771	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	8.590000	0.90821	2.532000	0.85374	0.655000	0.94253	.		0.567	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1		Intron	18	21	1	0	6.94344e-10	0.006122	1.04459e-09	18	21				
SNRNP40	9410	broad.mit.edu	37	1	31744346	31744346	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:31744346C>A	ENST00000263694.4	-	6	673	c.655G>T	c.(655-657)Gtc>Ttc	p.V219F	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Splice_Site_p.V219F|SNRNP40_ENST00000373720.3_5'Flank	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	219					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGGTCCCAGACCTGCAAAAAC	0.443																																							uc001bso.2		NA																	0					0						c.(655-657)GTC>TTC		WD repeat domain 57 (U5 snRNP specific)							58.0	60.0	59.0					1																	31744346		2203	4300	6503	SO:0001630	splice_region_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31744346C>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.655-1G>T	1.37:g.31744346C>A						SNRNP40_uc009vtt.2_5'Flank|SNRNP40_uc010oge.1_Missense_Mutation_p.V219F	p.V219F	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN			6	701	-			219			WD 4.		B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	c.655G>T	CCDS340.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321692	0.95682	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.65732	-0.17;-0.17	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	M	0.85777	2.775	0.80722	D	1	D;D	0.67145	0.996;0.989	D;D	0.75020	0.985;0.965	D	0.84179	0.0438	10	0.66056	D	0.02	.	19.6685	0.95901	0.0:1.0:0.0:0.0	.	219;219	B4DQJ1;Q96DI7	.;SNR40_HUMAN	F	219	ENSP00000263694:V219F;ENSP00000406841:V219F	ENSP00000263694:V219F	V	-	1	0	SNRNP40	31516933	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.759000	0.85235	2.639000	0.89480	0.655000	0.94253	GTC		0.443	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814	Missense_Mutation	7	50	1	0	0.000157383	0.00308	0.000182879	7	50				
KPNA6	23633	broad.mit.edu	37	1	32623006	32623006	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:32623006G>A	ENST00000373625.3	+	4	384	c.291G>A	c.(289-291)caG>caA	p.Q97Q	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Silent_p.Q94Q|KPNA6_ENST00000545542.1_Silent_p.Q102Q	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	97					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGACCTGCAGTTAGCAACCA	0.428																																							uc001bug.2		NA																	0					0						c.(289-291)CAG>CAA		karyopherin alpha 6							119.0	108.0	112.0					1																	32623006		2203	4300	6503	SO:0001819	synonymous_variant	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32623006G>A	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.291G>A	1.37:g.32623006G>A						KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Silent_p.Q94Q|KPNA6_uc010ogy.1_Silent_p.Q102Q|KPNA6_uc009vtz.2_Silent_p.Q36Q	p.Q97Q	NM_012316	NP_036448	O60684	IMA7_HUMAN			4	379	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	97			ARM 1; truncated.		B2RDC7|D3DPP5|Q5VVU3	Silent	SNP	ENST00000373625.3	37	c.291G>A	CCDS352.1																																																																																				0.428	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		9	27	0	0	0	0.006214	0	9	27				
KPNA6	23633	broad.mit.edu	37	1	32627617	32627617	+	Silent	SNP	A	A	T	rs373483664		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:32627617A>T	ENST00000373625.3	+	8	810	c.717A>T	c.(715-717)cgA>cgT	p.R239R	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Silent_p.R236R|KPNA6_ENST00000545542.1_Silent_p.R244R	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	239	NLS binding site (major). {ECO:0000250}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATCTCTGCCGAGGGAAAAACC	0.498																																							uc001bug.2		NA																	0					0						c.(715-717)CGA>CGT		karyopherin alpha 6							60.0	59.0	59.0					1																	32627617		2203	4300	6503	SO:0001819	synonymous_variant	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32627617A>T	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.717A>T	1.37:g.32627617A>T						KPNA6_uc001buh.2_Silent_p.R14R|KPNA6_uc010ogx.1_Silent_p.R236R|KPNA6_uc010ogy.1_Silent_p.R244R|KPNA6_uc009vtz.2_Silent_p.R134R	p.R239R	NM_012316	NP_036448	O60684	IMA7_HUMAN			8	805	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	239			NLS binding site (major) (By similarity).|ARM 4.		B2RDC7|D3DPP5|Q5VVU3	Silent	SNP	ENST00000373625.3	37	c.717A>T	CCDS352.1																																																																																				0.498	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		11	14	0	0	0	0.001368	0	11	14				
CSMD2	114784	broad.mit.edu	37	1	34238303	34238303	+	Silent	SNP	C	C	G	rs370352383		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:34238303C>G	ENST00000338325.1	-	7	949	c.537G>C	c.(535-537)cgG>cgC	p.R179R	CSMD2_ENST00000373381.4_Silent_p.R571R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	531	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCTTCCCTCCGGCCATATG	0.522																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(1591-1593)CGG>CGC		CUB and Sushi multiple domains 2							94.0	92.0	93.0					1																	34238303		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34238303C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.537G>C	1.37:g.34238303C>G						CSMD2_uc001bxm.1_Silent_p.R571R	p.R531R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			13	1622	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	531			Sushi 3.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000338325.1	37	c.1593G>C																																																																																					0.522	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		11	61	0	0	0	0.008291	0	11	61				
DLGAP3	58512	broad.mit.edu	37	1	35365842	35365842	+	Silent	SNP	G	G	T	rs149715442		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:35365842G>T	ENST00000373347.1	-	4	1408	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	DLGAP3_ENST00000235180.4_Silent_p.T380T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	380					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.T380T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTTGCCACCGGTGGGGTAAC	0.612																																							uc001byc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1138-1140)ACC>ACA		discs, large (Drosophila) homolog-associated							85.0	86.0	86.0					1																	35365842		2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365842G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1140C>A	1.37:g.35365842G>T							p.T380T	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			2	1140	-		Myeloproliferative disorder(586;0.0393)	380					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.1140C>A	CCDS30670.1																																																																																				0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		5	86	1	0	0.00116845	0.001168	0.00129404	5	86				
C1orf216	127703	broad.mit.edu	37	1	36181870	36181870	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:36181870G>A	ENST00000270815.4	-	2	823	c.53C>T	c.(52-54)cCa>cTa	p.P18L	C1orf216_ENST00000503824.1_5'UTR	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	18										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCCAGGAGGTGGGTCCCCCAG	0.572											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001bzh.1		NA																	0				skin(1)	1						c.(52-54)CCA>CTA		hypothetical protein LOC127703							50.0	47.0	48.0					1																	36181870		2203	4300	6503	SO:0001583	missense	127703							g.chr1:36181870G>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.53C>T	1.37:g.36181870G>A	ENSP00000425166:p.Pro18Leu		OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861		p.P18L	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN			2	541	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	18					D3DPS1|Q8N8N6	Missense_Mutation	SNP	ENST00000270815.4	37	c.53C>T	CCDS395.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.312424	0.00237	.	.	ENSG00000142686	ENST00000270815;ENST00000422623	.	.	.	5.1	-1.32	0.09201	.	0.651938	0.13970	N	0.350203	T	0.12603	0.0306	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.17961	-1.0352	9	0.30854	T	0.27	-3.282	3.9838	0.09506	0.4602:0.0:0.3802:0.1595	.	18	Q8TAB5	CA216_HUMAN	L	18	.	ENSP00000425166:P18L	P	-	2	0	C1orf216	35954457	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	0.626000	0.24492	-0.207000	0.10187	-0.263000	0.10527	CCA		0.572	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		8	19	0	0	0	0.00308	0	8	19				
RSPO1	284654	broad.mit.edu	37	1	38095317	38095317	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:38095317C>A	ENST00000401069.1	-	3	729	c.17G>T	c.(16-18)tGt>tTt	p.C6F	RSPO1_ENST00000373059.1_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.C6F|RSPO1_ENST00000401071.2_Missense_Mutation_p.C6F|RSPO1_ENST00000401070.1_Missense_Mutation_p.C6F|RSPO1_ENST00000356545.2_Missense_Mutation_p.C6F	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	6					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCACCACACACAGCCCAAG	0.642																																					GBM(122;680 2230 27822 42821)	GBM(122;680 2230 27822 42821)	uc001cbl.1		NA																	0					0						c.(16-18)TGT>TTT		R-spondin1 precursor							43.0	48.0	47.0					1																	38095317		2051	4187	6238	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38095317C>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.17G>T	1.37:g.38095317C>A	ENSP00000383847:p.Cys6Phe					RSPO1_uc001cbm.1_Missense_Mutation_p.C6F|RSPO1_uc009vvf.1_Intron|RSPO1_uc009vvg.1_Missense_Mutation_p.C6F	p.C6F	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN			4	805	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	6					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.17G>T	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723917	0.30593	.	.	ENSG00000169218	ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	D;T;D;T;T	0.85484	-1.99;-1.4;-1.99;-1.4;-1.4	5.4	3.37	0.38596	.	0.359433	0.25156	U	0.032702	T	0.63710	0.2534	N	0.04018	-0.295	0.33026	D	0.529579	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60172	-0.7315	10	0.21014	T	0.42	.	5.254	0.15537	0.2525:0.6426:0.0:0.1049	.	6;6	Q0H8S6;Q2MKA7	.;RSPO1_HUMAN	F	6	ENSP00000383848:C6F;ENSP00000348944:C6F;ENSP00000383849:C6F;ENSP00000383847:C6F;ENSP00000383846:C6F	ENSP00000348944:C6F	C	-	2	0	RSPO1	37867904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.974000	0.40559	1.287000	0.44583	0.561000	0.74099	TGT		0.642	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		15	12	1	0	5.01169e-05	0.00499	6.06397e-05	15	12				
C1orf109	54955	broad.mit.edu	37	1	38155370	38155370	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:38155370C>A	ENST00000358011.4	-	2	372	c.183G>T	c.(181-183)ccG>ccT	p.P61P	CDCA8_ENST00000373055.1_5'Flank|CDCA8_ENST00000327331.2_5'Flank|C1orf109_ENST00000464085.1_Silent_p.P61P	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	61										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CCCGAAGCGCCGGCACATCCT	0.627																																							uc001cbp.2		NA																	0					0						c.(181-183)CCG>CCT		hypothetical protein LOC54955							51.0	55.0	54.0					1																	38155370		2203	4300	6503	SO:0001819	synonymous_variant	54955							g.chr1:38155370C>A	AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.183G>T	1.37:g.38155370C>A						C1orf109_uc010oig.1_Silent_p.P124P|C1orf109_uc001cbo.2_Silent_p.P123P|C1orf109_uc001cbq.1_Silent_p.P61P|CDCA8_uc001cbr.2_5'Flank|CDCA8_uc001cbs.2_5'Flank	p.P61P	NM_017850	NP_060320	Q9NX04	CA109_HUMAN			2	373	-		Myeloproliferative disorder(586;0.0393)	61					D3DPT1|Q8WVD1	Silent	SNP	ENST00000358011.4	37	c.183G>T	CCDS423.1																																																																																				0.627	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012486.1	NM_017850		15	46	1	0	6.31663e-08	0.003163	8.85996e-08	15	46				
EPHA10	284656	broad.mit.edu	37	1	38227570	38227570	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:38227570C>A	ENST00000373048.4	-	3	356	c.357G>T	c.(355-357)gcG>gcT	p.A119A	EPHA10_ENST00000319637.6_Silent_p.A119A|EPHA10_ENST00000427468.2_Silent_p.A119A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	119	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCAGGTACCCGCGGCGCCAG	0.657																																							uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(355-357)GCG>GCT		EPH receptor A10 isofom 3							88.0	92.0	90.0					1																	38227570		2203	4300	6503	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227570C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.357G>T	1.37:g.38227570C>A						EPHA10_uc001cbw.3_Silent_p.A119A	p.A119A	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	443	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	119			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.357G>T	CCDS41305.1																																																																																				0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		16	121	1	0	3.52763e-06	0.00499	4.5192e-06	16	121				
MACF1	23499	broad.mit.edu	37	1	39854322	39854322	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:39854322G>C	ENST00000372915.3	+	57	15910	c.15823G>C	c.(15823-15825)Gat>Cat	p.D5275H	MACF1_ENST00000361689.2_Missense_Mutation_p.D3208H|MACF1_ENST00000539005.1_Missense_Mutation_p.D3187H|MACF1_ENST00000289893.4_Missense_Mutation_p.D3710H|MACF1_ENST00000317713.7_Missense_Mutation_p.D3208H|MACF1_ENST00000567887.1_Missense_Mutation_p.D5307H|MACF1_ENST00000564288.1_Missense_Mutation_p.D5270H|MACF1_ENST00000545844.1_Missense_Mutation_p.D3208H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5275					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAATTAGCAGATTTTAAAGT	0.408																																							uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(11128-11130)GAT>CAT		microfilament and actin filament cross-linker							89.0	96.0	93.0					1																	39854322		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39854322G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15823G>C	1.37:g.39854322G>C	ENSP00000362006:p.Asp5275His					MACF1_uc010ois.1_Missense_Mutation_p.D3208H|MACF1_uc001cda.1_Missense_Mutation_p.D3095H|MACF1_uc001cdc.1_Missense_Mutation_p.D2274H	p.D3710H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		22	11259	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5275			Spectrin 6.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.11128G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.43|15.43	2.832402|2.832402	0.50845|0.50845	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71;0.71|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.090873|.	0.47455|.	D|.	0.000240|.	T|T	0.65101|0.65101	0.2659|0.2659	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.994;0.993;0.993|.	P;P;P|.	0.59221|.	0.806;0.854;0.854|.	T|T	0.62718|0.62718	-0.6795|-0.6795	10|5	0.54805|.	T|.	0.06|.	.|.	13.028|13.028	0.58827|0.58827	0.0737:0.0:0.9263:0.0|0.0737:0.0:0.9263:0.0	.|.	5275;3208;3152|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	H|T	3208;5275;3208;3208;3187;3710|2320	ENSP00000439537:D3208H;ENSP00000362006:D5275H;ENSP00000354573:D3208H;ENSP00000313438:D3208H;ENSP00000444364:D3187H;ENSP00000289893:D3710H|.	ENSP00000289893:D3710H|.	D|R	+|+	1|2	0|0	MACF1|MACF1	39626909|39626909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.209000|4.209000	0.58493|0.58493	2.663000|2.663000	0.90544|0.90544	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	45	0	0	0	0.00308	0	7	45				
MACF1	23499	broad.mit.edu	37	1	39920741	39920741	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:39920741G>A	ENST00000372915.3	+	88	20831	c.20744G>A	c.(20743-20745)cGa>cAa	p.R6915Q	MACF1_ENST00000361689.2_Missense_Mutation_p.R4957Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4827Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5459Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4957Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7053Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R7016Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4957Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6915					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R4957Q(1)|p.R5459Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACATTGACCGAGTTAAAGCC	0.527																																							uc010oiu.1		NA																	2	Substitution - Missense(2)		skin(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(16375-16377)CGA>CAA		microfilament and actin filament cross-linker							135.0	116.0	122.0					1																	39920741		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39920741G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20744G>A	1.37:g.39920741G>A	ENSP00000362006:p.Arg6915Gln					MACF1_uc010ois.1_Missense_Mutation_p.R4957Q	p.R5459Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		54	16507	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6915					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16376G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.004591|3.004591	0.54254|0.54254	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50277	.|1.4;1.4;1.4;0.75;1.4;1.4	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	.|0.161226	.|0.31279	.|N	.|0.007928	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.01109|0.01109	-1.01|-1.01	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24823	.|0.112;0.019	.|B;B	.|0.21917	.|0.037;0.019	T|T	0.12167|0.12167	-1.0558|-1.0558	5|10	.|0.28530	.|T	.|0.3	.|.	5.3506|5.3506	0.16034|0.16034	0.2715:0.0:0.7285:0.0|0.2715:0.0:0.7285:0.0	.|.	.|6915;4957	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	K|Q	59|4957;6915;4957;4957;4827;5459	.|ENSP00000439537:R4957Q;ENSP00000362006:R6915Q;ENSP00000354573:R4957Q;ENSP00000313438:R4957Q;ENSP00000444364:R4827Q;ENSP00000289893:R5459Q	.|ENSP00000289893:R5459Q	E|R	+|+	1|2	0|0	MACF1|MACF1	39693328|39693328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.016000|5.016000	0.64041|0.64041	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.527	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	46	0	0	0	0.001368	0	10	46				
HIVEP3	59269	broad.mit.edu	37	1	42045856	42045856	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:42045856G>T	ENST00000372583.1	-	4	5498	c.4613C>A	c.(4612-4614)tCt>tAt	p.S1538Y	HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1538Y|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1538Y|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1538Y	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1538					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTTTGCCAGATGGCTGGGG	0.547																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4612-4614)TCT>TAT		human immunodeficiency virus type I enhancer							82.0	89.0	86.0					1																	42045856		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045856G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4613C>A	1.37:g.42045856G>T	ENSP00000361664:p.Ser1538Tyr					HIVEP3_uc001cha.3_Missense_Mutation_p.S1538Y|HIVEP3_uc001cgy.2_RNA	p.S1538Y	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	5826	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1538					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4613C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784350	0.31593	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.37	4.43	0.53597	.	0.305499	0.24115	N	0.041417	T	0.09291	0.0229	L	0.44542	1.39	0.09310	N	1	P;P	0.41569	0.755;0.641	B;B	0.37888	0.26;0.133	T	0.16689	-1.0394	10	0.72032	D	0.01	-0.0026	14.3282	0.66534	0.0734:0.0:0.9266:0.0	.	1538;1538	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Y	1538	ENSP00000361665:S1538Y;ENSP00000361664:S1538Y;ENSP00000247584:S1538Y;ENSP00000410828:S1538Y	ENSP00000247584:S1538Y	S	-	2	0	HIVEP3	41818443	0.006000	0.16342	0.925000	0.36789	0.894000	0.52154	1.422000	0.34826	2.793000	0.96121	0.655000	0.94253	TCT		0.547	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		8	72	1	0	0.00307968	0.00308	0.00336253	8	72				
ST3GAL3	6487	broad.mit.edu	37	1	44280572	44280572	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:44280572G>A	ENST00000361392.4	+	4	353	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R74Q|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R74Q|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R74Q|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R58Q|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R58Q|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R74Q|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R74Q|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R59Q|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R43Q|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R59Q	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	59					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GAGTATGATCGGTTGGGCTTC	0.468																																							uc001ckc.2		NA																	0				ovary(3)	3						c.(175-177)CGG>CAG		sialyltransferase 6 isoform j																																				SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44280572G>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.176G>A	1.37:g.44280572G>A	ENSP00000355341:p.Arg59Gln					ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Missense_Mutation_p.R74Q|ST3GAL3_uc001cka.2_Missense_Mutation_p.R43Q|ST3GAL3_uc001ckb.2_Missense_Mutation_p.R74Q|ST3GAL3_uc001ckd.2_Missense_Mutation_p.R59Q|ST3GAL3_uc001cke.2_Missense_Mutation_p.R43Q|ST3GAL3_uc001ckf.2_Missense_Mutation_p.R43Q|ST3GAL3_uc001ckg.2_Missense_Mutation_p.R59Q|ST3GAL3_uc001ckh.2_Missense_Mutation_p.R74Q|ST3GAL3_uc001cki.2_Missense_Mutation_p.R59Q|ST3GAL3_uc009vwv.2_Missense_Mutation_p.R59Q|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.R59Q|ST3GAL3_uc009vwy.2_Intron|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Missense_Mutation_p.R58Q|ST3GAL3_uc001ckl.2_Missense_Mutation_p.R59Q|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Missense_Mutation_p.R58Q|ST3GAL3_uc001cko.2_Missense_Mutation_p.R43Q|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Missense_Mutation_p.R43Q|ST3GAL3_uc001ckr.2_Missense_Mutation_p.R43Q|ST3GAL3_uc009vxb.2_Missense_Mutation_p.R43Q	p.R59Q	NM_006279	NP_006270	Q11203	SIAT6_HUMAN			4	353	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	59			Lumenal (Potential).		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.176G>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025072	0.75390	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80033	0.49;0.93;0.34;0.25;0.45;0.58;-0.26;-1.28;-1.32;0.48;-1.33;0.47;-1.28;-1.32;-1.25;0.13;0.34;-0.19;-0.15;-0.2;0.25;0.45;0.48;0.34;-0.26;0.58;-1.22	5.06	5.06	0.68205	.	0.346325	0.27932	N	0.017269	D	0.84906	0.5576	L	0.44542	1.39	0.41711	D	0.989457	D;B;B;P;D;B;D;B;D;D;B;B;B;B;B;B;D;B	0.76494	0.997;0.083;0.066;0.948;0.984;0.165;0.981;0.083;0.999;0.999;0.126;0.377;0.037;0.174;0.029;0.101;0.981;0.077	D;B;B;B;P;B;B;B;D;D;B;B;B;B;B;B;P;B	0.76575	0.964;0.03;0.004;0.24;0.89;0.009;0.422;0.03;0.975;0.988;0.039;0.056;0.009;0.026;0.013;0.026;0.458;0.017	T	0.83048	-0.0154	10	0.36615	T	0.2	.	14.1313	0.65255	0.0:0.0:1.0:0.0	.	43;59;43;43;58;43;58;59;59;74;59;43;43;59;59;74;43;74	Q11203-22;Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	Q	59;43;74;59;43;59;59;74;59;43;59;74;74;59;43;59;74;58;58;59;59;43;43;43;59;59;43	ENSP00000355341:R59Q;ENSP00000354748:R43Q;ENSP00000262915:R74Q;ENSP00000361450:R59Q;ENSP00000316999:R43Q;ENSP00000361449:R59Q;ENSP00000330463:R59Q;ENSP00000439634:R74Q;ENSP00000333494:R59Q;ENSP00000335633:R43Q;ENSP00000361452:R59Q;ENSP00000317192:R74Q;ENSP00000355201:R74Q;ENSP00000361437:R59Q;ENSP00000435603:R43Q;ENSP00000361444:R59Q;ENSP00000354657:R74Q;ENSP00000361442:R58Q;ENSP00000361441:R58Q;ENSP00000361440:R59Q;ENSP00000361443:R59Q;ENSP00000361447:R43Q;ENSP00000434876:R43Q;ENSP00000432682:R43Q;ENSP00000432965:R59Q;ENSP00000329755:R59Q;ENSP00000434378:R43Q	ENSP00000262915:R74Q	R	+	2	0	ST3GAL3	44053159	0.996000	0.38824	0.986000	0.45419	0.997000	0.91878	3.024000	0.49674	2.804000	0.96469	0.462000	0.41574	CGG		0.468	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		7	109	0	0	0	0.00308	0	7	109				
KLF17	128209	broad.mit.edu	37	1	44595237	44595237	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:44595237G>T	ENST00000372299.3	+	2	352	c.294G>T	c.(292-294)atG>atT	p.M98I	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	98					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCGTGGTATGAGCTACTGCC	0.567																																							uc001clp.2		NA																	0				ovary(1)|skin(1)	2						c.(292-294)ATG>ATT		zinc finger protein 393							101.0	99.0	100.0					1																	44595237		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595237G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.294G>T	1.37:g.44595237G>T	ENSP00000361373:p.Met98Ile					KLF17_uc009vxf.1_Missense_Mutation_p.M61I	p.M98I	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	352	+	Acute lymphoblastic leukemia(166;0.155)		98					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.294G>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358964	0.24598	.	.	ENSG00000171872	ENST00000372299	T	0.08458	3.09	4.17	2.3	0.28687	.	0.896664	0.09369	N	0.811679	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	10	0.32370	T	0.25	.	6.4457	0.21875	0.2172:0.0:0.7828:0.0	.	98	Q5JT82	KLF17_HUMAN	I	98	ENSP00000361373:M98I	ENSP00000361373:M98I	M	+	3	0	KLF17	44367824	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.244000	0.18124	0.713000	0.32060	-0.142000	0.14014	ATG		0.567	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		36	102	1	0	8.05343e-35	0.00874	1.55932e-34	36	102				
CYP4A22	284541	broad.mit.edu	37	1	47609582	47609582	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:47609582C>A	ENST00000371891.3	+	6	815	c.784C>A	c.(784-786)Cac>Aac	p.H262N	CYP4A22_ENST00000294337.3_Missense_Mutation_p.H262N|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	262						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCCCATCAGCACACAGGTTC	0.552																																					Pancreas(88;1240 1470 2099 14214 37557)	Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(784-786)CAC>AAC		cytochrome P450, family 4, subfamily A,							118.0	115.0	116.0					1																	47609582		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47609582C>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.784C>A	1.37:g.47609582C>A	ENSP00000360958:p.His262Asn					CYP4A22_uc009vyo.2_Missense_Mutation_p.H262N|CYP4A22_uc009vyp.2_Intron	p.H262N	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			6	835	+			262					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.784C>A	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	19.24	3.789304	0.70337	.	.	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.68479	-0.33;-0.33	1.94	0.975	0.19721	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.79805	2.47	0.41626	D	0.988999	D	0.54601	0.967	P	0.56474	0.799	T	0.77448	-0.2584	10	0.87932	D	0	.	8.9509	0.35788	0.0:0.8694:0.0:0.1306	.	262	Q5TCH4	CP4AM_HUMAN	N	262	ENSP00000360958:H262N;ENSP00000294337:H262N	ENSP00000294337:H262N	H	+	1	0	CYP4A22	47382169	0.986000	0.35501	0.982000	0.44146	0.625000	0.37756	2.848000	0.48278	1.114000	0.41781	0.194000	0.17425	CAC		0.552	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		11	78	1	0	3.07112e-06	0.010729	3.94924e-06	11	78				
KTI12	112970	broad.mit.edu	37	1	52499412	52499412	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:52499412C>T	ENST00000371614.1	-	1	76	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	8							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TACGGCAGCCCGCAAAACACC	0.672																																							uc001ctj.1		NA																	0				central_nervous_system(2)	2						c.(22-24)GGG>AGG		KTI12 homolog, chromatin associated							11.0	12.0	12.0					1																	52499412		2175	4252	6427	SO:0001583	missense	112970						ATP binding	g.chr1:52499412C>T		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.22G>A	1.37:g.52499412C>T	ENSP00000360676:p.Gly8Arg					TXNDC12_uc001cti.2_Intron	p.G8R	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			1	61	-			8			ATP (Potential).			Missense_Mutation	SNP	ENST00000371614.1	37	c.22G>A	CCDS562.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828155	0.90955	.	.	ENSG00000198841	ENST00000371614	T	0.78481	-1.18	5.06	5.06	0.68205	.	0.000000	0.85682	U	0.000000	D	0.90765	0.7101	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92801	0.6256	10	0.87932	D	0	.	15.2953	0.73902	0.0:1.0:0.0:0.0	.	8	Q96EK9	KTI12_HUMAN	R	8	ENSP00000360676:G8R	ENSP00000360676:G8R	G	-	1	0	KTI12	52272000	1.000000	0.71417	0.994000	0.49952	0.622000	0.37654	4.544000	0.60691	2.627000	0.88993	0.655000	0.94253	GGG		0.672	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		3	13	0	0	0	0.004672	0	3	13				
ORC1	4998	broad.mit.edu	37	1	52859452	52859452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:52859452G>A	ENST00000371568.3	-	6	963	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	ORC1_ENST00000371566.1_Nonsense_Mutation_p.Q249*	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	249					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAAGTCTGCTGGGACATCTGA	0.413																																							uc001ctt.2		NA																	0					0						c.(745-747)CAG>TAG		origin recognition complex, subunit 1							49.0	47.0	48.0					1																	52859452		2203	4300	6503	SO:0001587	stop_gained	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52859452G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.745C>T	1.37:g.52859452G>A	ENSP00000360623:p.Gln249*					ORC1L_uc010oni.1_Nonsense_Mutation_p.Q249*|ORC1L_uc001ctu.2_Nonsense_Mutation_p.Q249*|ORC1L_uc009vzd.2_Nonsense_Mutation_p.Q3*	p.Q249*	NM_004153	NP_004144	Q13415	ORC1_HUMAN			6	964	-			249					D3DQ34|Q13471|Q5T0F5	Nonsense_Mutation	SNP	ENST00000371568.3	37	c.745C>T	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597921	0.46318	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	.	.	.	4.94	2.97	0.34412	.	1.195780	0.05572	N	0.571219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.0034	10.3468	0.43911	0.0:0.0:0.6457:0.3543	.	.	.	.	X	249	.	ENSP00000360621:Q249X	Q	-	1	0	ORC1	52632040	0.446000	0.25665	0.005000	0.12908	0.019000	0.09904	0.710000	0.25748	0.704000	0.31869	0.655000	0.94253	CAG		0.413	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		8	26	0	0	0	0.006214	0	8	26				
DNAJC6	9829	broad.mit.edu	37	1	65858405	65858405	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:65858405G>T	ENST00000395325.3	+	12	1746	c.1589G>T	c.(1588-1590)gGt>gTt	p.G530V	DNAJC6_ENST00000263441.7_Missense_Mutation_p.G517V|DNAJC6_ENST00000371069.4_Missense_Mutation_p.G587V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	530	Poly-Gly.|Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTGTTTGGGGGTGGAGGTGCA	0.577																																							uc001dcd.1		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1588-1590)GGT>GTT		DnaJ (Hsp40) homolog, subfamily C, member 6							50.0	49.0	49.0					1																	65858405		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65858405G>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1589G>T	1.37:g.65858405G>T	ENSP00000378735:p.Gly530Val					DNAJC6_uc001dcc.1_Missense_Mutation_p.G561V|DNAJC6_uc010opc.1_Missense_Mutation_p.G517V|DNAJC6_uc001dce.1_Missense_Mutation_p.G587V	p.G530V	NM_014787	NP_055602	O75061	AUXI_HUMAN			12	1753	+			530			Poly-Gly.|Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.1589G>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	9.882	1.201814	0.22121	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93076	-3.15;-3.15;-3.16	5.1	3.22	0.36961	.	0.444865	0.18989	N	0.125654	T	0.71962	0.3402	N	0.12182	0.205	0.43149	D	0.994919	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.19666	0.026;0.003;0.003	T	0.63537	-0.6615	9	.	.	.	.	4.7141	0.12887	0.08:0.3739:0.3974:0.1487	.	587;530;517	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	V	517;530;587	ENSP00000263441:G517V;ENSP00000378735:G530V;ENSP00000360108:G587V	.	G	+	2	0	DNAJC6	65630993	0.438000	0.25602	0.772000	0.31596	0.797000	0.45037	0.633000	0.24598	0.722000	0.32252	0.655000	0.94253	GGT		0.577	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			7	21	1	0	3.09899e-07	0.004482	4.18449e-07	7	21				
LEPR	3953	broad.mit.edu	37	1	66083808	66083808	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:66083808G>C	ENST00000349533.6	+	16	2559	c.2374G>C	c.(2374-2376)Gtt>Ctt	p.V792L	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.V792L|LEPR_ENST00000344610.8_Missense_Mutation_p.V792L|LEPR_ENST00000371058.1_Missense_Mutation_p.V792L|LEPR_ENST00000371060.3_Missense_Mutation_p.V792L	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCTTCATCTGTTAAGAAGTA	0.284																																							uc001dci.2		NA																	0				skin(1)	1						c.(2374-2376)GTT>CTT		leptin receptor isoform 1							66.0	74.0	71.0					1																	66083808		2202	4294	6496	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66083808G>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2374G>C	1.37:g.66083808G>C	ENSP00000330393:p.Val792Leu					LEPR_uc001dcg.2_Missense_Mutation_p.V792L|LEPR_uc001dch.2_Missense_Mutation_p.V792L|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.V792L|LEPR_uc001dck.2_Missense_Mutation_p.V792L	p.V792L	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	16	2576	+			792			Extracellular (Potential).|Fibronectin type-III 4.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2374G>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073853	0.36566	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.72	3.81	0.43845	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.753564	0.13146	N	0.410279	T	0.41604	0.1166	M	0.72479	2.2	0.58432	D	0.999998	B;P;D	0.53151	0.185;0.454;0.958	B;B;P	0.56163	0.048;0.137;0.793	T	0.46400	-0.9194	10	0.42905	T	0.14	-6.4207	2.4627	0.04545	0.1453:0.2981:0.4034:0.1533	.	792;792;792	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	L	792	ENSP00000340884:V792L;ENSP00000330393:V792L;ENSP00000360099:V792L;ENSP00000360098:V792L;ENSP00000360097:V792L	ENSP00000340884:V792L	V	+	1	0	LEPR	65856396	0.952000	0.32445	0.775000	0.31657	0.954000	0.61252	1.221000	0.32503	0.732000	0.32470	-0.175000	0.13238	GTT		0.284	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		14	47	0	0	0	0.00245	0	14	47				
LRRC7	57554	broad.mit.edu	37	1	70478690	70478690	+	Missense_Mutation	SNP	C	C	A	rs371532826		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:70478690C>A	ENST00000035383.5	+	11	1084	c.1054C>A	c.(1054-1056)Cta>Ata	p.L352I	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.L357I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	352						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTCATGTCTCTACGCTCCAA	0.313																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1054-1056)CTA>ATA		leucine rich repeat containing 7							118.0	124.0	122.0					1																	70478690		2203	4297	6500	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70478690C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1054C>A	1.37:g.70478690C>A	ENSP00000035383:p.Leu352Ile					LRRC7_uc009wbg.2_5'UTR	p.L352I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			11	1084	+			352			LRR 15.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1054C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453514	0.63290	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.25579	1.79;1.79	5.87	4.96	0.65561	.	0.255399	0.32640	N	0.005835	T	0.19525	0.0469	L	0.56280	1.765	0.80722	D	1	P	0.38711	0.643	B	0.42422	0.387	T	0.02352	-1.1172	10	0.62326	D	0.03	.	14.1969	0.65677	0.0:0.9284:0.0:0.0716	.	352	Q96NW7	LRRC7_HUMAN	I	357;352;175	ENSP00000309245:L357I;ENSP00000035383:L352I	ENSP00000035383:L352I	L	+	1	2	LRRC7	70251278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.832000	0.48152	1.487000	0.48415	0.650000	0.86243	CTA		0.313	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		37	85	1	0	1.22674e-20	0.00874	2.27175e-20	37	85				
ERICH3	127254	broad.mit.edu	37	1	75037774	75037774	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:75037774C>A	ENST00000326665.5	-	14	3838	c.3620G>T	c.(3619-3621)gGg>gTg	p.G1207V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1207	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTGGCGGTGCCCTTCCTTCAG	0.597																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3619-3621)GGG>GTG		hypothetical protein LOC127254							112.0	111.0	112.0					1																	75037774		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037774C>A																												ENST00000326665.5:c.3620G>T	1.37:g.75037774C>A	ENSP00000322609:p.Gly1207Val						p.G1207V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3839	-			1207			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3620G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675968	0.47886	.	.	ENSG00000178965	ENST00000326665	T	0.39406	1.08	4.88	-6.11	0.02131	.	.	.	.	.	T	0.08670	0.0215	L	0.36672	1.1	0.09310	N	1	B	0.18166	0.026	B	0.18871	0.023	T	0.27054	-1.0085	9	0.30078	T	0.28	-1.0001	1.5268	0.02527	0.2177:0.2376:0.1073:0.4374	.	1207	Q5RHP9	CA173_HUMAN	V	1207	ENSP00000322609:G1207V	ENSP00000322609:G1207V	G	-	2	0	C1orf173	74810362	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.505000	0.06367	-0.839000	0.04212	-1.131000	0.01979	GGG		0.597	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	90	1	0	0.000157383	0.00308	0.000182879	6	90				
ERICH3	127254	broad.mit.edu	37	1	75037803	75037803	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:75037803G>T	ENST00000326665.5	-	14	3809	c.3591C>A	c.(3589-3591)tcC>tcA	p.S1197S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1197	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCCCTGCTGGACAGCTCTT	0.557																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3589-3591)TCC>TCA		hypothetical protein LOC127254							140.0	139.0	139.0					1																	75037803		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037803G>T																												ENST00000326665.5:c.3591C>A	1.37:g.75037803G>T							p.S1197S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3810	-			1197			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.3591C>A	CCDS30755.1																																																																																				0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			32	78	1	0	1.62565e-12	0.012213	2.65987e-12	32	78				
IFI44	10561	broad.mit.edu	37	1	79116312	79116312	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:79116312G>T	ENST00000370747.4	+	2	517	c.432G>T	c.(430-432)caG>caT	p.Q144H	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	144					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TCTCTATTCAGGATTATGAAG	0.338																																							uc001dip.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(430-432)CAG>CAT		interferon-induced, hepatitis C-associated							48.0	51.0	50.0					1																	79116312		2202	4294	6496	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79116312G>T	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.432G>T	1.37:g.79116312G>T	ENSP00000359783:p.Gln144His					IFI44_uc010orr.1_Missense_Mutation_p.Q144H|IFI44_uc010ors.1_Intron	p.Q144H	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			2	556	+			144					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.432G>T	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324035	0.41096	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.45276	0.9;1.91	3.27	0.226	0.15353	TLDc (1);	0.860552	0.10118	N	0.713837	T	0.29190	0.0726	L	0.38175	1.15	0.40758	D	0.982977	D;D	0.65815	0.995;0.995	P;P	0.62560	0.904;0.904	T	0.36915	-0.9728	10	0.45353	T	0.12	.	3.1302	0.06420	0.2386:0.0:0.5543:0.2071	.	144;144	B7ZB11;Q8TCB0	.;IFI44_HUMAN	H	144;20	ENSP00000359783:Q144H;ENSP00000399477:Q20H	ENSP00000359783:Q144H	Q	+	3	2	IFI44	78888900	0.005000	0.15991	0.464000	0.27143	0.125000	0.20455	-1.113000	0.03296	0.050000	0.15949	0.467000	0.42956	CAG		0.338	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		10	29	1	0	7.48243e-07	0.006214	9.9376e-07	10	29				
ELTD1	64123	broad.mit.edu	37	1	79383622	79383622	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:79383622G>T	ENST00000370742.3	-	11	1638	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	525					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAAATCCCTTGTTGTAGATGA	0.413																																							uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.(1573-1575)AAC>AAA		EGF, latrophilin and seven transmembrane domain							144.0	136.0	138.0					1																	79383622		1846	4095	5941	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383622G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1575C>A	1.37:g.79383622G>T	ENSP00000359778:p.Asn525Lys						p.N525K	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1731	-			525			Cytoplasmic (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1575C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776391	0.70107	.	.	ENSG00000162618	ENST00000370742	T	0.41065	1.01	5.95	0.877	0.19145	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.28115	0.83	0.50632	D	0.999882	P	0.52316	0.952	P	0.62740	0.906	T	0.08932	-1.0698	9	.	.	.	.	5.4637	0.16632	0.3213:0.0:0.5567:0.1221	.	525	Q9HBW9	ELTD1_HUMAN	K	525	ENSP00000359778:N525K	.	N	-	3	2	ELTD1	79156210	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	3.031000	0.49728	-0.071000	0.12886	0.491000	0.48974	AAC		0.413	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		52	54	1	0	9.57592e-29	0.00361	1.83117e-28	52	54				
DPYD	1806	broad.mit.edu	37	1	97564188	97564188	+	Splice_Site	SNP	T	T	G	rs201035051		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:97564188T>G	ENST00000370192.3	-	21	2723	c.2623A>C	c.(2623-2625)Aaa>Caa	p.K875Q	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	875					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTTGGCAGTTTCTAAAAGGAA	0.328													T|||	1	0.000199681	0.0	0.0	5008	,	,		17238	0.001		0.0	False		,,,				2504	0.0						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2623-2625)AAA>CAA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						76.0	74.0	75.0					1																	97564188		2203	4300	6503	SO:0001630	splice_region_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564188T>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2623-1A>C	1.37:g.97564188T>G							p.K875Q	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2760	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	875					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2623A>C	CCDS30777.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	12.89	2.074020	0.36566	.	.	ENSG00000188641	ENST00000370192	D	0.90324	-2.65	5.66	5.66	0.87406	.	0.202188	0.47093	D	0.000258	D	0.83825	0.5338	M	0.66939	2.045	0.80722	D	1	B	0.15719	0.014	B	0.13407	0.009	T	0.80540	-0.1337	10	0.20519	T	0.43	-14.3184	14.7536	0.69546	0.0:0.0:0.0:1.0	.	875	Q12882	DPYD_HUMAN	Q	875	ENSP00000359211:K875Q	ENSP00000359211:K875Q	K	-	1	0	DPYD	97336776	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.509000	0.67012	2.285000	0.76669	0.482000	0.46254	AAA		0.328	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	Missense_Mutation	3	5	0	0	0	0.004672	0	3	5				
PLPPR5	163404	broad.mit.edu	37	1	99418878	99418878	+	Splice_Site	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:99418878T>A	ENST00000263177.4	-	3	592		c.e3-2		LPPR5_ENST00000370188.3_Splice_Site	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN								integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TATAAATTCCTGGGGAAGAAA	0.388																																							uc001dsb.2		NA																	0					0						c.e3-1		phosphatidic acid phosphatase type 2d isoform 1							39.0	41.0	41.0					1																	99418878		2203	4300	6503	SO:0001630	splice_region_variant	163404					integral to membrane	hydrolase activity	g.chr1:99418878T>A																												ENST00000263177.4:c.371-2A>T	1.37:g.99418878T>A						LPPR5_uc001dsc.2_Splice_Site_p.G124_splice	p.G124_splice	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			3	593	-								A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Splice_Site	SNP	ENST00000263177.4	37	c.371_splice	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.811982	0.70797	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0087	0.64481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AL161744.1	99191466	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	7.640000	0.83355	1.950000	0.56595	0.533000	0.62120	.		0.388	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1		Intron	8	11	0	0	0	0.00308	0	8	11				
PLPPR4	9890	broad.mit.edu	37	1	99771526	99771527	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:99771526_99771527CC>AA	ENST00000370185.3	+	7	1749_1750	c.1252_1253CC>AA	c.(1252-1254)CCg>AAg	p.P418K	LPPR4_ENST00000370184.1_Missense_Mutation_p.P260K|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAATACCTTGCCGCGAGCCAAT	0.5																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1252-1254)CCG>AAG		plasticity related gene 1																																				SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771526_99771527CC>AA																												Exception_encountered	1.37:g.99771526_99771527delinsAA	ENSP00000359204:p.Pro418Lys					LPPR4_uc010oue.1_Missense_Mutation_p.P360K	p.P418K	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1358_1359	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	418					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	DNP	ENST00000370185.3	37	c.1252_1253CC>AA	CCDS757.1																																																																																				0.500	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			15	29	0	0	0	0.004672	0	15	29				
OLFM3	118427	broad.mit.edu	37	1	102296235	102296235	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:102296235T>A	ENST00000338858.5	-	3	424	c.425A>T	c.(424-426)cAt>cTt	p.H142L	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.H47L|OLFM3_ENST00000359814.3_Missense_Mutation_p.H142L|OLFM3_ENST00000370103.4_Missense_Mutation_p.H122L			Q96PB7	NOE3_HUMAN	olfactomedin 3	142					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TACCTGAAAATGCTTGGTCAT	0.408																																							uc001duf.2		NA																	0				ovary(2)|skin(1)	3						c.(424-426)CAT>CTT		olfactomedin 3							189.0	178.0	182.0					1																	102296235		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102296235T>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.425A>T	1.37:g.102296235T>A	ENSP00000345192:p.His142Leu					OLFM3_uc001dug.2_Missense_Mutation_p.H122L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.H47L|OLFM3_uc001due.2_RNA	p.H142L	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	3	496	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	142			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.425A>T		.	.	.	.	.	.	.	.	.	.	T	16.02	3.004092	0.54254	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	T;T;T;T	0.75154	1.0;1.0;-0.91;1.0	5.41	5.41	0.78517	.	0.044323	0.85682	D	0.000000	T	0.51534	0.1680	N	0.22421	0.69	0.48511	D	0.999669	B;P	0.35208	0.016;0.49	B;B	0.34093	0.044;0.175	T	0.64080	-0.6491	10	0.87932	D	0	.	15.7347	0.77834	0.0:0.0:0.0:1.0	.	122;142	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	122;142;47;142	ENSP00000359121:H122L;ENSP00000345192:H142L;ENSP00000443471:H47L;ENSP00000352867:H142L	ENSP00000345192:H142L	H	-	2	0	OLFM3	102068823	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.967000	0.87967	2.173000	0.68751	0.477000	0.44152	CAT		0.408	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			14	59	0	0	0	0.004007	0	14	59				
VAV3	10451	broad.mit.edu	37	1	108145771	108145771	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:108145771A>G	ENST00000370056.4	-	23	2304	c.2030T>C	c.(2029-2031)aTg>aCg	p.M677T	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Missense_Mutation_p.M117T|VAV3_ENST00000544443.1_Missense_Mutation_p.M81T|VAV3_ENST00000527011.1_Missense_Mutation_p.M677T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	677	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAATCTTTCCATTGCTCCAGC	0.358																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(2029-2031)ATG>ACG		vav 3 guanine nucleotide exchange factor isoform							121.0	112.0	115.0					1																	108145771		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108145771A>G	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2030T>C	1.37:g.108145771A>G	ENSP00000359073:p.Met677Thr					VAV3_uc010ouu.1_Missense_Mutation_p.M81T|VAV3_uc001dvj.1_Missense_Mutation_p.M117T|VAV3_uc010ouv.1_Missense_Mutation_p.M81T|VAV3_uc010ouw.1_Missense_Mutation_p.M677T	p.M677T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	23	2084	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	677			SH2.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.2030T>C	CCDS785.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591548	0.66219	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.82	5.82	0.92795	SH2 motif (5);	0.036274	0.85682	D	0.000000	D	0.92694	0.7678	M	0.72479	2.2	0.80722	D	1	P;P;P;P	0.47910	0.797;0.819;0.902;0.854	P;D;D;P	0.65323	0.756;0.934;0.919;0.742	D	0.93631	0.6956	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	677;81;677;117	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	T	677;677;81;117	ENSP00000359073:M677T;ENSP00000432540:M677T;ENSP00000446404:M81T;ENSP00000394897:M117T	ENSP00000359073:M677T	M	-	2	0	VAV3	107947294	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.225000	0.72522	0.460000	0.39030	ATG		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		8	40	0	0	0	0.004482	0	8	40				
VAV3	10451	broad.mit.edu	37	1	108313279	108313279	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:108313279T>G	ENST00000370056.4	-	6	901	c.627A>C	c.(625-627)gaA>gaC	p.E209D	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.E144D|VAV3_ENST00000527011.1_Missense_Mutation_p.E209D	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	209	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACTCCAAAGTTTCTGTATATT	0.299																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(625-627)GAA>GAC		vav 3 guanine nucleotide exchange factor isoform							118.0	119.0	119.0					1																	108313279		2201	4298	6499	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108313279T>G	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.627A>C	1.37:g.108313279T>G	ENSP00000359073:p.Glu209Asp					VAV3_uc010ouw.1_Missense_Mutation_p.E209D|VAV3_uc001dvl.1_Missense_Mutation_p.E33D|VAV3_uc010oux.1_Missense_Mutation_p.E209D	p.E209D	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	6	681	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	209			DH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.627A>C	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.03|12.03	1.816934|1.816934	0.32145|0.32145	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.68479|.	-0.33;-0.33;-0.33|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Dbl homology (DH) domain (5);Calponin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.28001|0.28001	0.0690|0.0690	N|N	0.17872|0.17872	0.535|0.535	0.53005|0.53005	D|D	0.999966|0.999966	B;D;B;B|.	0.69078|.	0.011;0.997;0.011;0.024|.	B;D;B;B|.	0.68621|.	0.05;0.959;0.075;0.06|.	T|T	0.17961|0.17961	-1.0352|-1.0352	10|5	0.02654|.	T|.	1|.	.|.	10.4901|10.4901	0.44746|0.44746	0.0:0.072:0.0:0.928|0.0:0.072:0.0:0.928	.|.	209;209;144;209|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	D|T	209;209;144|204	ENSP00000359073:E209D;ENSP00000432540:E209D;ENSP00000360912:E144D|.	ENSP00000359073:E209D|.	E|K	-|-	3|2	2|0	VAV3|VAV3	108114802|108114802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	1.756000|1.756000	0.38390|0.38390	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.299	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		5	43	0	0	0	0.000602	0	5	43				
VAV3	10451	broad.mit.edu	37	1	108507484	108507484	+	Missense_Mutation	SNP	G	G	T	rs372314733		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:108507484G>T	ENST00000370056.4	-	1	282	c.8C>A	c.(7-9)cCg>cAg	p.P3Q	VAV3_ENST00000371846.4_5'Flank|VAV3_ENST00000527011.1_Missense_Mutation_p.P3Q|VAV3-AS1_ENST00000438318.1_RNA	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	3	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTGCTTCCACGGCTCCATGCC	0.746																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(7-9)CCG>CAG		vav 3 guanine nucleotide exchange factor isoform							32.0	27.0	29.0					1																	108507484		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108507484G>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.8C>A	1.37:g.108507484G>T	ENSP00000359073:p.Pro3Gln					VAV3_uc010ouw.1_Missense_Mutation_p.P3Q|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Missense_Mutation_p.P3Q	p.P3Q	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	1	62	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	3			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.8C>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761531	0.31228	.	.	ENSG00000134215	ENST00000370056;ENST00000527011	T;T	0.59083	0.29;0.29	4.59	3.67	0.42095	Calponin homology domain (4);	0.238749	0.35870	N	0.002934	T	0.17109	0.0411	N	0.03608	-0.345	0.80722	D	1	B;P;B	0.45428	0.012;0.858;0.012	B;B;B	0.43225	0.015;0.412;0.007	T	0.04268	-1.0964	10	0.14656	T	0.56	.	11.164	0.48533	0.0921:0.0:0.9079:0.0	.	3;3;3	B7ZLR1;E9PQ97;Q9UKW4	.;.;VAV3_HUMAN	Q	3	ENSP00000359073:P3Q;ENSP00000432540:P3Q	ENSP00000359073:P3Q	P	-	2	0	VAV3	108309007	0.988000	0.35896	1.000000	0.80357	0.990000	0.78478	1.912000	0.39946	0.942000	0.37525	0.400000	0.26472	CCG		0.746	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		4	7	1	0	0.00198382	0.001984	0.00217721	4	7				
WDR47	22911	broad.mit.edu	37	1	109554149	109554149	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:109554149T>C	ENST00000369962.3	-	5	741	c.519A>G	c.(517-519)gcA>gcG	p.A173A	WDR47_ENST00000361054.3_Silent_p.A145A|WDR47_ENST00000400794.3_Silent_p.A180A|WDR47_ENST00000357672.3_Silent_p.A145A|WDR47_ENST00000369965.4_Silent_p.A173A			O94967	WDR47_HUMAN	WD repeat domain 47	173					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GGATGAATTCTGCAACCATGA	0.438																																							uc001dwj.2		NA																	0				ovary(1)	1						c.(517-519)GCA>GCG		WD repeat domain 47 isoform 3							200.0	205.0	203.0					1																	109554149		2203	4296	6499	SO:0001819	synonymous_variant	22911							g.chr1:109554149T>C	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.519A>G	1.37:g.109554149T>C						WDR47_uc001dwl.2_Silent_p.A180A|WDR47_uc001dwi.2_Silent_p.A173A|WDR47_uc001dwk.2_Silent_p.A145A|WDR47_uc010ovf.1_Silent_p.A100A	p.A173A	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	5	895	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	173					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Silent	SNP	ENST00000369962.3	37	c.519A>G	CCDS44187.1																																																																																				0.438	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		23	127	0	0	0	0.00333	0	23	127				
CELSR2	1952	broad.mit.edu	37	1	109795090	109795090	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:109795090G>T	ENST00000271332.3	+	1	2450	c.2389G>T	c.(2389-2391)Gac>Tac	p.D797Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	797	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCAGAAGTCCGACACCACCTA	0.572																																					NSCLC(158;1285 2011 34800 34852 42084)	NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(2389-2391)GAC>TAC		cadherin EGF LAG seven-pass G-type receptor 2							111.0	91.0	98.0					1																	109795090		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795090G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2389G>T	1.37:g.109795090G>T	ENSP00000271332:p.Asp797Tyr						p.D797Y	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2450	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	797			Cadherin 6.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2389G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	18.13	3.556512	0.65425	.	.	ENSG00000143126	ENST00000271332	T	0.01821	4.62	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09468	0.0233	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02257	-1.1187	9	0.87932	D	0	.	18.0666	0.89392	0.0:0.0:1.0:0.0	.	797	Q9HCU4	CELR2_HUMAN	Y	797	ENSP00000271332:D797Y	ENSP00000271332:D797Y	D	+	1	0	CELSR2	109596613	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.807000	0.86032	2.589000	0.87451	0.555000	0.69702	GAC		0.572	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		9	23	1	0	0.000442599	0.006214	0.000502282	9	23				
SLC6A17	388662	broad.mit.edu	37	1	110740984	110740984	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:110740984C>T	ENST00000331565.4	+	12	2587	c.2102C>T	c.(2101-2103)tCa>tTa	p.S701L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	701					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCAGCACATCACCCCTGGAG	0.642																																							uc009wfq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2101-2103)TCA>TTA		solute carrier family 6, member 17							91.0	81.0	84.0					1																	110740984		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110740984C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2102C>T	1.37:g.110740984C>T	ENSP00000330199:p.Ser701Leu						p.S701L	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2563	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	701			Cytoplasmic (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.2102C>T	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658576	0.29515	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.73897	-0.79	4.5	4.5	0.54988	.	0.550760	0.18070	N	0.152662	T	0.50017	0.1591	L	0.36672	1.1	0.23916	N	0.996476	B	0.31968	0.349	B	0.27380	0.079	T	0.47761	-0.9092	10	0.33141	T	0.24	.	17.1784	0.86848	0.0:1.0:0.0:0.0	.	701	Q9H1V8	S6A17_HUMAN	L	701	ENSP00000330199:S701L	ENSP00000330199:S701L	S	+	2	0	SLC6A17	110542507	0.995000	0.38212	0.384000	0.26145	0.307000	0.27823	4.749000	0.62155	2.048000	0.60808	0.305000	0.20034	TCA		0.642	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		8	39	0	0	0	0.00308	0	8	39				
PROK1	84432	broad.mit.edu	37	1	110996618	110996618	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:110996618C>A	ENST00000271331.3	+	2	125	c.108C>A	c.(106-108)acC>acA	p.T36T	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	36					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGCAGGCACCTGCTGTGCCA	0.627																																							uc001dzs.2		NA																	0					0						c.(106-108)ACC>ACA		prokineticin 1 precursor							62.0	57.0	59.0					1																	110996618		2203	4300	6503	SO:0001819	synonymous_variant	84432				angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	g.chr1:110996618C>A	AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.108C>A	1.37:g.110996618C>A							p.T36T	NM_032414	NP_115790	P58294	PROK1_HUMAN		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	159	+		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	36					Q5VWD4|Q8TC69	Silent	SNP	ENST00000271331.3	37	c.108C>A	CCDS825.1																																																																																				0.627	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031969.1	NM_032414		4	19	1	0	0.000602214	0.000602	0.000676645	4	19				
DENND2C	163259	broad.mit.edu	37	1	115130046	115130046	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:115130046G>A	ENST00000393274.1	-	20	3342	c.2717C>T	c.(2716-2718)tCg>tTg	p.S906L	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.S794L|DENND2C_ENST00000393276.3_Missense_Mutation_p.S849L	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	906					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGGGCTCCGACTCAGGAAT	0.468																																							uc001efd.1		NA																	0				skin(3)	3						c.(2716-2718)TCG>TTG		DENN/MADD domain containing 2C							144.0	160.0	155.0					1																	115130046		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115130046G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2717C>T	1.37:g.115130046G>A	ENSP00000376955:p.Ser906Leu					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.S849L	p.S906L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	3419	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	906					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2717C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267444	0.80469	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08807	3.7;3.66;3.05	5.24	5.24	0.73138	.	0.119152	0.64402	D	0.000016	T	0.03915	0.0110	L	0.40543	1.245	0.33579	D	0.599589	D;P	0.57257	0.979;0.861	B;B	0.36030	0.173;0.216	T	0.28776	-1.0033	10	0.56958	D	0.05	.	17.4463	0.87579	0.0:0.0:1.0:0.0	.	906;849	Q68D51;Q68D51-3	DEN2C_HUMAN;.	L	849;906;906;794	ENSP00000376957:S849L;ENSP00000376955:S906L;ENSP00000376958:S794L	ENSP00000358553:S906L	S	-	2	0	DENND2C	114931569	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	4.345000	0.59360	2.619000	0.88677	0.650000	0.86243	TCG		0.468	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		47	78	0	0	0	0.00361	0	47	78				
DENND2C	163259	broad.mit.edu	37	1	115168040	115168040	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:115168040T>A	ENST00000393274.1	-	4	1191	c.566A>T	c.(565-567)aAg>aTg	p.K189M	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393277.1_Missense_Mutation_p.K189M|DENND2C_ENST00000393276.3_Missense_Mutation_p.K189M	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	189					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAAGCTCTTGGTTATTCC	0.383																																							uc001efd.1		NA																	0				skin(3)	3						c.(565-567)AAG>ATG		DENN/MADD domain containing 2C							67.0	68.0	67.0					1																	115168040		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115168040T>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.566A>T	1.37:g.115168040T>A	ENSP00000376955:p.Lys189Met					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.K189M	p.K189M	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1268	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	189					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.566A>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388620	0.61956	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.46819	3.44;3.5;0.86	5.31	5.31	0.75309	.	0.539162	0.16804	N	0.198845	T	0.55081	0.1898	M	0.66939	2.045	0.45490	D	0.99845	D;D	0.89917	1.0;0.98	D;P	0.68621	0.959;0.893	T	0.60697	-0.7212	10	0.72032	D	0.01	.	10.05	0.42210	0.0:0.0855:0.0:0.9145	.	189;189	Q68D51;Q68D51-3	DEN2C_HUMAN;.	M	189	ENSP00000376957:K189M;ENSP00000376955:K189M;ENSP00000376958:K189M	ENSP00000358553:K189M	K	-	2	0	DENND2C	114969563	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.652000	0.46682	2.022000	0.59522	0.528000	0.53228	AAG		0.383	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		4	34	0	0	0	0.000602	0	4	34				
HSD3B2	3284	broad.mit.edu	37	1	119964541	119964541	+	Missense_Mutation	SNP	C	C	A	rs369303483	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:119964541C>A	ENST00000543831.1	+	4	666	c.417C>A	c.(415-417)aaC>aaA	p.N139K	HSD3B2_ENST00000369416.3_Missense_Mutation_p.N139K	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	139					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TCATCCAGAACGGCCACGAAG	0.537																																							uc001ehs.2		NA																	0				ovary(2)	2						c.(415-417)AAC>AAA		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						102.0	102.0	102.0					1																	119964541		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964541C>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.417C>A	1.37:g.119964541C>A	ENSP00000445122:p.Asn139Lys					HSD3B2_uc001eht.2_Missense_Mutation_p.N139K|HSD3B2_uc001ehu.2_Intron	p.N139K	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1190	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	139					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.417C>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	11.13	1.548675	0.27652	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.86030	-2.06;-2.06;-2.06	4.1	-5.17	0.02849	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.188859	0.56097	D	0.000040	D	0.88489	0.6450	M	0.92923	3.36	0.46954	D	0.999267	D	0.55800	0.973	P	0.61477	0.889	D	0.89039	0.3447	9	.	.	.	-0.8761	11.1646	0.48535	0.0:0.5025:0.0:0.4975	.	139	P26439	3BHS2_HUMAN	K	139	ENSP00000445122:N139K;ENSP00000388292:N139K;ENSP00000358424:N139K	.	N	+	3	2	HSD3B2	119766064	0.832000	0.29368	0.001000	0.08648	0.048000	0.14542	-0.088000	0.11198	-1.119000	0.02958	-1.261000	0.01458	AAC		0.537	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		30	54	1	0	3.73148e-12	0.007291	6.01281e-12	30	54				
PDE4DIP	9659	broad.mit.edu	37	1	144903151	144903151	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:144903151C>A	ENST00000369354.3	-	21	2930	c.2741G>T	c.(2740-2742)cGc>cTc	p.R914L	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R1077L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R914L|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1051L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R701L|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R1077L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1051L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R914L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R914L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R980L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	914					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TAGCCGACTGCGTAACACCTG	0.522			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(2740-2742)CGC>CTC		phosphodiesterase 4D interacting protein isoform							150.0	148.0	149.0					1																	144903151		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144903151C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2741G>T	1.37:g.144903151C>A	ENSP00000358360:p.Arg914Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R980L|PDE4DIP_uc001emc.1_Missense_Mutation_p.R914L|PDE4DIP_uc001emd.1_Missense_Mutation_p.R914L|PDE4DIP_uc001emb.1_Missense_Mutation_p.R1077L|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Missense_Mutation_p.R699L	p.R914L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	21	3032	-			914			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2741G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.007944|4.007944	0.75046|0.75046	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000491426|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.|T;T;T;T;T;T;T;T;T;T	.|0.27104	.|4.05;4.09;4.09;4.21;4.16;3.01;3.04;2.15;1.98;1.69	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|.	.|.	.|.	.|.	T|T	0.25419|0.25419	0.0618|0.0618	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;0.975;1.0;0.997;0.987	.|D;P;D;P;P	.|0.78314	.|0.963;0.831;0.991;0.875;0.654	T|T	0.02121|0.02121	-1.1210|-1.1210	5|9	.|0.27082	.|T	.|0.32	.|.	12.7451|12.7451	0.57278|0.57278	0.0:0.8349:0.1651:0.0|0.0:0.8349:0.1651:0.0	.|.	.|1077;914;1077;980;914	.|E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.|.;.;.;.;MYOME_HUMAN	S|L	37|980;914;914;1077;1051;1051;914;914;1077;1077;701	.|ENSP00000327209:R980L;ENSP00000358360:R914L;ENSP00000358363:R914L;ENSP00000435654:R1051L;ENSP00000358366:R1051L;ENSP00000358357:R914L;ENSP00000358355:R914L;ENSP00000316434:R1077L;ENSP00000433392:R1077L;ENSP00000436791:R701L	.|ENSP00000327209:R980L	A|R	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143614508|143614508	0.986000|0.986000	0.35501|0.35501	0.940000|0.940000	0.37924|0.37924	0.996000|0.996000	0.88848|0.88848	2.770000|2.770000	0.47662|0.47662	2.619000|2.619000	0.88677|0.88677	0.644000|0.644000	0.83932|0.83932	GCA|CGC		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		67	129	1	0	8.52622e-23	0.00361	1.59632e-22	67	129				
PDE4DIP	9659	broad.mit.edu	37	1	145015899	145015899	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:145015899G>A	ENST00000530740.1	-	3	440	c.402C>T	c.(400-402)ccC>ccT	p.P134P	RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000478649.2_Silent_p.P63P|PDE4DIP_ENST00000493130.2_Silent_p.P63P|PDE4DIP_ENST00000369359.4_Silent_p.P134P|PDE4DIP_ENST00000369348.3_Silent_p.P134P|PDE4DIP_ENST00000313382.9_Silent_p.P63P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTACCTGAGGGGGTTTCTCAA	0.458			T	PDGFRB	MPD																																		uc001elx.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(187-189)CCC>CCT		phosphodiesterase 4D interacting protein isoform							443.0	514.0	490.0					1																	145015899		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015899G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.402C>T	1.37:g.145015899G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Silent_p.P63P|PDE4DIP_uc001elo.2_Silent_p.P134P|PDE4DIP_uc001emh.2_Silent_p.P134P|uc001emj.2_Intron	p.P63P	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	524	-			Error:Variant_position_missing_in_Q5VU43_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000530740.1	37	c.189C>T																																																																																					0.458	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		14	601	0	0	0	0.00245	0	14	601				
HFE2	148738	broad.mit.edu	37	1	145414786	145414786	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:145414786G>T	ENST00000336751.5	+	2	243	c.5G>T	c.(4-6)gGg>gTg	p.G2V	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	2					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATAGGTATGGGGGAGCCAGGC	0.567																																							uc001eni.2		NA																	0				ovary(1)	1						c.(4-6)GGG>GTG		hemojuvelin isoform a precursor							77.0	71.0	73.0					1																	145414786		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145414786G>T	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.5G>T	1.37:g.145414786G>T	ENSP00000337014:p.Gly2Val					NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_Intron|HFE2_uc001enl.2_Intron	p.G2V	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN			2	330	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		2					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.5G>T	CCDS910.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590285	0.46214	.	.	ENSG00000168509	ENST00000421822;ENST00000336751	D;D	0.93712	-2.28;-3.27	5.18	4.27	0.50696	.	0.222785	0.31102	N	0.008251	T	0.79137	0.4395	N	0.08118	0	0.80722	D	1	P	0.36065	0.535	B	0.38985	0.287	T	0.81446	-0.0929	10	0.46703	T	0.11	1.9517	9.8167	0.40858	0.0934:0.0:0.9066:0.0	.	2	Q6ZVN8	RGMC_HUMAN	V	2	ENSP00000411863:G2V;ENSP00000337014:G2V	ENSP00000337014:G2V	G	+	2	0	HFE2	144126143	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	3.934000	0.56553	1.424000	0.47217	0.645000	0.84053	GGG		0.567	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		19	39	1	0	1.00905e-13	0.008871	1.69003e-13	19	39				
ANKRD35	148741	broad.mit.edu	37	1	145560150	145560150	+	Silent	SNP	G	G	T	rs375287957		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:145560150G>T	ENST00000355594.4	+	8	723	c.636G>T	c.(634-636)gcG>gcT	p.A212A	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	212										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTGACGCGGGGGCTGTGG	0.607																																					Melanoma(9;127 754 22988 51047)	Melanoma(9;127 754 22988 51047)	uc001eob.1		NA																	0				ovary(4)|skin(1)	5						c.(634-636)GCG>GCT		ankyrin repeat domain 35							75.0	69.0	71.0					1																	145560150		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145560150G>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.636G>T	1.37:g.145560150G>T						NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.A55A	p.A212A	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			8	744	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		212			ANK 5.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.636G>T	CCDS919.1																																																																																				0.607	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		34	46	1	0	3.11337e-16	0.002836	5.4847e-16	34	46				
ANKRD35	148741	broad.mit.edu	37	1	145562978	145562978	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:145562978C>A	ENST00000355594.4	+	10	2753	c.2666C>A	c.(2665-2667)gCc>gAc	p.A889D		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	889										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTCAGGCAGCCGAACAAGAG	0.647																																					Melanoma(9;127 754 22988 51047)	Melanoma(9;127 754 22988 51047)	uc001eob.1		NA																	0				ovary(4)|skin(1)	5						c.(2665-2667)GCC>GAC		ankyrin repeat domain 35							19.0	23.0	22.0					1																	145562978		2200	4296	6496	SO:0001583	missense	148741							g.chr1:145562978C>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2666C>A	1.37:g.145562978C>A	ENSP00000347802:p.Ala889Asp					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A732D	p.A889D	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2774	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		889			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.2666C>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402576	0.25291	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.55413	0.52	5.49	5.49	0.81192	.	0.269304	0.26582	N	0.023569	T	0.45498	0.1345	M	0.68317	2.08	0.44092	D	0.99685	D	0.53619	0.961	P	0.49637	0.617	T	0.37361	-0.9709	10	0.11485	T	0.65	-7.5061	14.7509	0.69525	0.0:1.0:0.0:0.0	.	889	Q8N283	ANR35_HUMAN	D	798;889	ENSP00000347802:A889D	ENSP00000347802:A889D	A	+	2	0	ANKRD35	144274335	0.194000	0.23325	0.080000	0.20451	0.036000	0.12997	3.048000	0.49862	2.857000	0.98124	0.650000	0.86243	GCC		0.647	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		6	39	1	0	8.12818e-05	0.001984	9.60912e-05	6	39				
GJA5	2702	broad.mit.edu	37	1	147230755	147230755	+	Missense_Mutation	SNP	C	C	T	rs371086800		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:147230755C>T	ENST00000271348.2	-	2	753	c.592G>A	c.(592-594)Gta>Ata	p.V198I	GJA5_ENST00000369237.1_Missense_Mutation_p.V198I|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	198					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGCCGGGATACGTAACAGTTG	0.567																																							uc001eps.1		NA																	0				ovary(1)	1						c.(592-594)GTA>ATA		connexin 40		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	61.0	55.0	57.0		592,592	4.8	0.1	1		57	0,8600		0,0,4300	no	missense,missense	GJA5	NM_005266.5,NM_181703.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	198/359,198/359	147230755	1,13005	2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230755C>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.592G>A	1.37:g.147230755C>T	ENSP00000271348:p.Val198Ile					GJA5_uc001ept.1_Missense_Mutation_p.V198I	p.V198I	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	733	-	all_hematologic(923;0.0276)		198			Extracellular (Potential).		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.592G>A	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704901	0.48412	2.27E-4	0.0	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.95821	-3.82;-3.82;-3.82	5.68	4.77	0.60923	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.226724	0.44097	N	0.000481	D	0.90854	0.7127	N	0.20574	0.59	0.50171	D	0.99985	D	0.59767	0.986	P	0.58721	0.844	D	0.89451	0.3730	10	0.10377	T	0.69	.	14.5605	0.68133	0.0:0.9298:0.0:0.0702	.	198	P36382	CXA5_HUMAN	I	198	ENSP00000271348:V198I;ENSP00000358240:V198I;ENSP00000407645:V198I	ENSP00000271348:V198I	V	-	1	0	GJA5	145697379	1.000000	0.71417	0.086000	0.20670	0.803000	0.45373	4.648000	0.61425	1.395000	0.46643	0.563000	0.77884	GTA		0.567	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		10	34	0	0	0	0.006214	0	10	34				
TNFAIP8L2	79626	broad.mit.edu	37	1	151131197	151131197	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:151131197C>A	ENST00000368910.3	+	2	150	c.24C>A	c.(22-24)agC>agA	p.S8R		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	8					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTCAAAGAGCCTGGCACTGC	0.512																																							uc001ewx.2		NA																	0					0						c.(22-24)AGC>AGA		tumor necrosis factor, alpha-induced protein							66.0	63.0	64.0					1																	151131197		2203	4300	6503	SO:0001583	missense	79626				innate immune response			g.chr1:151131197C>A	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.24C>A	1.37:g.151131197C>A	ENSP00000357906:p.Ser8Arg						p.S8R	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	150	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		8					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	c.24C>A	CCDS985.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054001	0.75960	.	.	ENSG00000163154	ENST00000368910	T	0.32272	1.46	5.67	-4.81	0.03180	.	0.258739	0.44902	D	0.000418	T	0.16727	0.0402	M	0.69823	2.125	0.30803	N	0.739672	B	0.27286	0.174	B	0.25614	0.062	T	0.14172	-1.0482	10	0.62326	D	0.03	0.0106	18.1941	0.89815	0.0:0.8221:0.0:0.1779	.	8	Q6P589	TP8L2_HUMAN	R	8	ENSP00000357906:S8R	ENSP00000357906:S8R	S	+	3	2	TNFAIP8L2	149397821	0.482000	0.25948	0.964000	0.40570	0.990000	0.78478	0.036000	0.13819	-0.811000	0.04369	-0.238000	0.12139	AGC		0.512	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		7	47	1	0	0.00307968	0.00308	0.00336253	7	47				
LINGO4	339398	broad.mit.edu	37	1	151774717	151774717	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:151774717A>G	ENST00000368820.3	-	2	1401	c.464T>C	c.(463-465)cTa>cCa	p.L155P		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	155						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGCTGCCTAGCTCCCCAAA	0.597																																							uc001ezf.1		NA																	0				large_intestine(1)	1						c.(463-465)CTA>CCA		leucine rich repeat and Ig domain containing 4							63.0	71.0	68.0					1																	151774717		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774717A>G		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.464T>C	1.37:g.151774717A>G	ENSP00000357810:p.Leu155Pro						p.L155P	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	654	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		155			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368820.3	37	c.464T>C	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548819	0.65311	.	.	ENSG00000213171	ENST00000368820	D	0.86164	-2.08	5.13	5.13	0.70059	.	0.000000	0.37348	N	0.002127	D	0.94561	0.8248	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95783	0.8818	10	0.87932	D	0	.	12.9381	0.58327	1.0:0.0:0.0:0.0	.	155	Q6UY18	LIGO4_HUMAN	P	155	ENSP00000357810:L155P	ENSP00000357810:L155P	L	-	2	0	LINGO4	150041341	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.328000	0.79160	2.165000	0.68154	0.379000	0.24179	CTA		0.597	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		20	97	0	0	0	0.008871	0	20	97				
TCHH	7062	broad.mit.edu	37	1	152084342	152084342	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152084342G>T	ENST00000368804.1	-	2	1350	c.1351C>A	c.(1351-1353)Cag>Aag	p.Q451K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	451	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctctcctcctgctcgcgcttc	0.682																																							uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1351-1353)CAG>AAG		trichohyalin							43.0	49.0	47.0					1																	152084342		2103	4214	6317	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084342G>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1351C>A	1.37:g.152084342G>T	ENSP00000357794:p.Gln451Lys					TCHH_uc009wne.1_Missense_Mutation_p.Q451K	p.Q451K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1351	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		451			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1351C>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	5.901	0.350411	0.11182	.	.	ENSG00000159450	ENST00000368804	T	0.06528	3.29	3.25	-2.55	0.06288	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.46428	-0.9192	9	0.07175	T	0.84	.	9.9044	0.41366	0.0:0.3879:0.4821:0.1299	.	451	Q07283	TRHY_HUMAN	K	451	ENSP00000357794:Q451K	ENSP00000357794:Q451K	Q	-	1	0	TCHH	150350966	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-4.440000	0.00233	-0.676000	0.05238	-2.135000	0.00341	CAG		0.682	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		11	41	1	0	9.31168e-06	0.001855	1.16912e-05	11	41				
HRNR	388697	broad.mit.edu	37	1	152188238	152188238	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152188238G>T	ENST00000368801.2	-	3	5942	c.5867C>A	c.(5866-5868)tCt>tAt	p.S1956Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1956					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGAACCAGACCCATGTCG	0.617																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5866-5868)TCT>TAT		hornerin							255.0	436.0	376.0					1																	152188238		2165	4288	6453	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188238G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5867C>A	1.37:g.152188238G>T	ENSP00000357791:p.Ser1956Tyr						p.S1956Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5943	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1956			22.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5867C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	4.897	0.166791	0.09339	.	.	ENSG00000197915	ENST00000368801	T	0.03004	4.08	2.63	2.63	0.31362	.	.	.	.	.	T	0.03871	0.0109	M	0.62723	1.935	0.09310	N	1	D	0.54964	0.969	P	0.56278	0.795	T	0.40646	-0.9552	9	0.42905	T	0.14	.	5.5257	0.16957	0.1636:0.0:0.8364:0.0	.	1956	Q86YZ3	HORN_HUMAN	Y	1956	ENSP00000357791:S1956Y	ENSP00000357791:S1956Y	S	-	2	0	HRNR	150454862	0.030000	0.19436	0.001000	0.08648	0.052000	0.14988	2.397000	0.44477	1.460000	0.47911	0.456000	0.33151	TCT		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		34	733	1	0	2.95478e-19	0.00874	5.41285e-19	34	733				
FLG	2312	broad.mit.edu	37	1	152275457	152275457	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152275457G>T	ENST00000368799.1	-	3	11940	c.11905C>A	c.(11905-11907)Caa>Aaa	p.Q3969K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3969					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACCTGATTGACCTTTTTGC	0.428									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11905-11907)CAA>AAA		filaggrin							150.0	135.0	140.0					1																	152275457		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275457G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11905C>A	1.37:g.152275457G>T	ENSP00000357789:p.Gln3969Lys						p.Q3969K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11941	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3969					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11905C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.728	0.135432	0.09032	.	.	ENSG00000143631	ENST00000368799	T	0.00649	5.98	3.86	0.735	0.18300	.	.	.	.	.	T	0.00178	0.0005	L	0.36672	1.1	0.09310	N	1	P	0.34977	0.478	B	0.28305	0.088	T	0.16364	-1.0405	9	0.06365	T	0.9	.	11.9423	0.52907	0.0:0.4008:0.5992:0.0	.	3969	P20930	FILA_HUMAN	K	3969	ENSP00000357789:Q3969K	ENSP00000357789:Q3969K	Q	-	1	0	FLG	150542081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.158000	0.10070	0.030000	0.15379	-0.171000	0.13296	CAA		0.428	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		36	35	1	0	2.19358e-23	0.005524	4.14343e-23	36	35				
FLG	2312	broad.mit.edu	37	1	152275775	152275775	+	Missense_Mutation	SNP	C	C	A	rs553373171		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152275775C>A	ENST00000368799.1	-	3	11622	c.11587G>T	c.(11587-11589)Gtt>Ttt	p.V3863F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3863	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGCTAACACTGGATCCC	0.567									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11587-11589)GTT>TTT		filaggrin							173.0	178.0	176.0					1																	152275775		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275775C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11587G>T	1.37:g.152275775C>A	ENSP00000357789:p.Val3863Phe						p.V3863F	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11623	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3863			Filaggrin 23.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11587G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318864	0.23994	.	.	ENSG00000143631	ENST00000368799	T	0.02258	4.37	3.09	-1.95	0.07548	.	.	.	.	.	T	0.00695	0.0023	L	0.47716	1.5	0.09310	N	1	B	0.24651	0.108	B	0.23716	0.048	T	0.46884	-0.9159	9	0.51188	T	0.08	.	1.2911	0.02060	0.3788:0.3089:0.1868:0.1255	.	3863	P20930	FILA_HUMAN	F	3863	ENSP00000357789:V3863F	ENSP00000357789:V3863F	V	-	1	0	FLG	150542399	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.231000	0.00269	-0.144000	0.11314	0.552000	0.68991	GTT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		31	209	1	0	1.39806e-14	0.008361	2.41289e-14	31	209				
FLG	2312	broad.mit.edu	37	1	152280612	152280612	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152280612C>T	ENST00000368799.1	-	3	6785	c.6750G>A	c.(6748-6750)gaG>gaA	p.E2250E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2250	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGTCCCTCACTGTCAC	0.587									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6748-6750)GAG>GAA		filaggrin							204.0	203.0	203.0					1																	152280612		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280612C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6750G>A	1.37:g.152280612C>T							p.E2250E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6786	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2250			Ser-rich.|Filaggrin 13.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6750G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		64	240	0	0	0	0.00361	0	64	240				
FLG	2312	broad.mit.edu	37	1	152281738	152281738	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152281738C>A	ENST00000368799.1	-	3	5659	c.5624G>T	c.(5623-5625)gGa>gTa	p.G1875V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1875	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCGTCTCCTGATTGTTT	0.582									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5623-5625)GGA>GTA		filaggrin							308.0	308.0	308.0					1																	152281738		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281738C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5624G>T	1.37:g.152281738C>A	ENSP00000357789:p.Gly1875Val						p.G1875V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5660	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1875			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5624G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.370	0.626536	0.14257	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01464	4.86	1.73	-2.9	0.05648	.	.	.	.	.	T	0.02688	0.0081	M	0.77820	2.39	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.22208	-1.0223	9	0.72032	D	0.01	-1.7327	4.1917	0.10424	0.0:0.3642:0.4608:0.175	.	1875	P20930	FILA_HUMAN	V	1875;110	ENSP00000357789:G1875V	ENSP00000271820:G110V	G	-	2	0	FLG	150548362	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.200000	0.00275	-0.690000	0.05142	0.586000	0.80456	GGA		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		77	350	1	0	1.15413e-51	0.00361	2.24487e-51	77	350				
FLG	2312	broad.mit.edu	37	1	152284273	152284273	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152284273C>G	ENST00000368799.1	-	3	3124	c.3089G>C	c.(3088-3090)gGa>gCa	p.G1030A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1030	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTTTCTCCTGGACTTGA	0.562									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3088-3090)GGA>GCA		filaggrin							361.0	360.0	360.0					1																	152284273		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284273C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3089G>C	1.37:g.152284273C>G	ENSP00000357789:p.Gly1030Ala					uc001ezv.2_5'Flank	p.G1030A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3125	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1030			Filaggrin 6.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3089G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	6.533	0.466653	0.12402	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.05649	3.41	3.66	-1.2	0.09554	.	.	.	.	.	T	0.01421	0.0046	L	0.60455	1.87	0.09310	N	1	P	0.42757	0.789	B	0.37780	0.258	T	0.38607	-0.9653	9	0.07030	T	0.85	.	4.4659	0.11689	0.0:0.3742:0.389:0.2368	.	1030	P20930	FILA_HUMAN	A	1030;237	ENSP00000357789:G1030A	ENSP00000357789:G1030A	G	-	2	0	FLG	150550897	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.304000	0.02741	-0.054000	0.13266	0.299000	0.19835	GGA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		263	319	0	0	0	0.00361	0	263	319				
FLG2	388698	broad.mit.edu	37	1	152326860	152326860	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152326860G>T	ENST00000388718.5	-	3	3474	c.3402C>A	c.(3400-3402)ggC>ggA	p.G1134G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1134	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTACCTGTGCCTGACCCAT	0.532																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3400-3402)GGC>GGA		filaggrin family member 2							215.0	206.0	209.0					1																	152326860		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152326860G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3402C>A	1.37:g.152326860G>T						uc001ezv.2_Intron	p.G1134G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3475	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1134			Ser-rich.|Filaggrin 4.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.3402C>A	CCDS30861.1																																																																																				0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		51	174	1	0	2.65591e-33	0.00361	5.13074e-33	51	174				
LCE3B	353143	broad.mit.edu	37	1	152586433	152586433	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:152586433T>A	ENST00000335633.1	+	1	147	c.147T>A	c.(145-147)tcT>tcA	p.S49S		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	49	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		GCCCCAGCTCTGAGGGCGGCT	0.657																																							uc010pds.1		NA																	0					0						c.(145-147)TCT>TCA		late cornified envelope 3B							54.0	49.0	51.0					1																	152586433		1816	2701	4517	SO:0001819	synonymous_variant	353143				keratinization			g.chr1:152586433T>A		CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"""Late cornified envelopes"""	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.147T>A	1.37:g.152586433T>A							p.S49S	NM_178433	NP_848520	Q5TA77	LCE3B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)	1	147	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49			Cys-rich.			Silent	SNP	ENST00000335633.1	37	c.147T>A	CCDS1016.1																																																																																				0.657	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034515.2	NM_178433		16	80	0	0	0	0.003163	0	16	80				
NUP210L	91181	broad.mit.edu	37	1	154108410	154108410	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:154108410G>T	ENST00000368559.3	-	7	960	c.889C>A	c.(889-891)Caa>Aaa	p.Q297K	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q297K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	297					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTATGGTCTTGCAATTCCAGT	0.413																																							uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(889-891)CAA>AAA		nucleoporin 210kDa-like isoform 1							98.0	89.0	92.0					1																	154108410		1862	4102	5964	SO:0001583	missense	91181					integral to membrane		g.chr1:154108410G>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.889C>A	1.37:g.154108410G>T	ENSP00000357547:p.Gln297Lys					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.Q297K	p.Q297K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		7	961	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		297					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.889C>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559528	0.45590	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05319	3.46;3.46	4.78	4.78	0.61160	.	0.109692	0.41294	D	0.000912	T	0.01835	0.0058	L	0.52759	1.655	0.29569	N	0.850023	P;P	0.39831	0.524;0.69	B;B	0.33454	0.095;0.164	T	0.36817	-0.9732	10	0.08179	T	0.78	-1.7898	10.3517	0.43939	0.0913:0.0:0.9087:0.0	.	297;297	E7EP56;Q5VU65	.;P210L_HUMAN	K	297	ENSP00000357547:Q297K;ENSP00000271854:Q297K	ENSP00000271854:Q297K	Q	-	1	0	NUP210L	152375034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.129000	0.57957	2.471000	0.83476	0.650000	0.86243	CAA		0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		9	46	1	0	3.86212e-05	0.008291	4.67636e-05	9	46				
ATP8B2	57198	broad.mit.edu	37	1	154317158	154317158	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:154317158G>T	ENST00000368489.3	+	21	2282	c.2282G>T	c.(2281-2283)gGc>gTc	p.G761V		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	747					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGCTCCGTAGGCAACGGCTTC	0.552											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001fex.2		NA																	0				ovary(1)|skin(1)	2						c.(2281-2283)GGC>GTC		ATPase, class I, type 8B, member 2 isoform a							139.0	130.0	133.0					1																	154317158		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317158G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2282G>T	1.37:g.154317158G>T	ENSP00000357475:p.Gly761Val		OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.G761V	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		21	2282	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		747			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2282G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	5.377	0.254803	0.10185	.	.	ENSG00000143515	ENST00000368489	T	0.09255	3.0	5.74	4.8	0.61643	.	1.223890	0.05412	N	0.542593	T	0.03783	0.0107	L	0.33293	1	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.28808	-1.0032	10	0.27785	T	0.31	.	8.3287	0.32173	0.0784:0.0:0.765:0.1566	.	761	P98198-3	.	V	761	ENSP00000357475:G761V	ENSP00000357475:G761V	G	+	2	0	ATP8B2	152583782	1.000000	0.71417	0.549000	0.28204	0.095000	0.18619	2.808000	0.47963	1.363000	0.46019	0.591000	0.81541	GGC		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		20	66	1	0	3.99206e-14	0.007413	6.7865e-14	20	66				
CHRNB2	1141	broad.mit.edu	37	1	154544056	154544056	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:154544056A>T	ENST00000368476.3	+	5	1021	c.757A>T	c.(757-759)Atc>Ttc	p.I253F		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	253					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CTCGCTAGCCATCCTTGTCTT	0.537																																							uc001ffg.2		NA																	0					0						c.(757-759)ATC>TTC		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						349.0	258.0	289.0					1																	154544056		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544056A>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.757A>T	1.37:g.154544056A>T	ENSP00000357461:p.Ile253Phe						p.I253F	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1021	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		253			Helical; (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.757A>T	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753554	0.69648	.	.	ENSG00000160716	ENST00000368476	D	0.85411	-1.98	4.1	4.1	0.47936	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	M	0.85299	2.745	0.80722	D	1	P	0.48834	0.916	P	0.57057	0.812	D	0.90998	0.4840	10	0.87932	D	0	.	12.9123	0.58187	1.0:0.0:0.0:0.0	.	253	P17787	ACHB2_HUMAN	F	253	ENSP00000357461:I253F	ENSP00000357461:I253F	I	+	1	0	CHRNB2	152810680	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.549000	0.45803	1.701000	0.51217	0.383000	0.25322	ATC		0.537	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		78	70	0	0	0	0.00361	0	78	70				
LMNA	4000	broad.mit.edu	37	1	156105882	156105882	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:156105882A>G	ENST00000368300.4	+	6	1339	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	LMNA_ENST00000368297.1_Missense_Mutation_p.Y295C|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.Y376C|LMNA_ENST00000368299.3_Missense_Mutation_p.Y376C|LMNA_ENST00000473598.2_Missense_Mutation_p.Y277C|LMNA_ENST00000448611.2_Missense_Mutation_p.Y264C|LMNA_ENST00000368301.2_Missense_Mutation_p.Y376C|LMNA_ENST00000392353.3_Missense_Mutation_p.Y295C|LMNA_ENST00000347559.2_Missense_Mutation_p.Y376C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	376	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ATCCACGCCTACCGCAAGCTC	0.647									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																														uc001fni.2		NA																	0				ovary(2)	2						c.(1126-1128)TAC>TGC		lamin A/C isoform 1 precursor							59.0	52.0	55.0					1																	156105882		2203	4300	6503	SO:0001583	missense	4000	Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity	g.chr1:156105882A>G	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1127A>G	1.37:g.156105882A>G	ENSP00000357283:p.Tyr376Cys					LMNA_uc001fnf.1_Missense_Mutation_p.Y376C|LMNA_uc001fng.2_Missense_Mutation_p.Y376C|LMNA_uc001fnh.2_Missense_Mutation_p.Y376C|LMNA_uc009wro.1_Missense_Mutation_p.Y376C|LMNA_uc010pgz.1_Missense_Mutation_p.Y264C|LMNA_uc001fnj.2_Missense_Mutation_p.Y295C|LMNA_uc001fnk.2_Missense_Mutation_p.Y277C|LMNA_uc009wrp.2_Missense_Mutation_p.T104A|LMNA_uc010pha.1_Missense_Mutation_p.Y32C	p.Y376C	NM_170707	NP_733821	P02545	LMNA_HUMAN			6	1376	+	Hepatocellular(266;0.158)		376			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.1127A>G	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262724	0.80358	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	D;D;D;D;D;D;D;D;D;D	0.98150	-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.75	5.3	5.3	0.74995	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.52532	D	0.000066	D	0.99111	0.9694	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99285	1.0897	10	0.87932	D	0	.	13.4666	0.61258	1.0:0.0:0.0:0.0	.	32;264;376;277;295;376;376;376	B4DFR3;E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;.;LMNA_HUMAN;.;.	C	376;376;376;376;376;376;376;264;295;277;295;2	ENSP00000357284:Y376C;ENSP00000292304:Y376C;ENSP00000355292:Y376C;ENSP00000357283:Y376C;ENSP00000357282:Y376C;ENSP00000395597:Y264C;ENSP00000357280:Y295C;ENSP00000421821:Y277C;ENSP00000376164:Y295C;ENSP00000424977:Y2C	ENSP00000292302:Y376C	Y	+	2	0	LMNA	154372506	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.221000	0.95188	2.120000	0.65058	0.459000	0.35465	TAC		0.647	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		7	27	0	0	0	0.008291	0	7	27				
CCT3	7203	broad.mit.edu	37	1	156280816	156280816	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:156280816C>A	ENST00000295688.3	-	12	1606	c.1326G>T	c.(1324-1326)caG>caT	p.Q442H	CCT3_ENST00000368261.3_Missense_Mutation_p.Q397H|CCT3_ENST00000472765.2_Missense_Mutation_p.Q397H|CCT3_ENST00000368259.2_Missense_Mutation_p.Q404H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	442					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCTCTAGGGCCTGGGCAACAG	0.577																																							uc001fol.1		NA																	0				ovary(1)|skin(1)	2						c.(1324-1326)CAG>CAT		chaperonin containing TCP1, subunit 3 isoform a							77.0	63.0	68.0					1																	156280816		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156280816C>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1326G>T	1.37:g.156280816C>A	ENSP00000295688:p.Gln442His					CCT3_uc001fom.1_Missense_Mutation_p.Q441H|CCT3_uc001fon.1_Missense_Mutation_p.Q404H|CCT3_uc010phj.1_Missense_Mutation_p.Q396H|CCT3_uc010phk.1_Missense_Mutation_p.Q396H|CCT3_uc010phl.1_Missense_Mutation_p.Q396H	p.Q442H	NM_005998	NP_005989	P49368	TCPG_HUMAN			12	1546	-	Hepatocellular(266;0.158)		442					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.1326G>T	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256589	0.39896	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.75	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.45285	1.41	0.48762	D	0.999708	B;B;B	0.12630	0.004;0.005;0.006	B;B;B	0.19666	0.012;0.016;0.026	T	0.59279	-0.7484	10	0.48119	T	0.1	-17.7013	10.3148	0.43729	0.0:0.8314:0.0:0.1686	.	404;441;442	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	H	442;404;397;397	ENSP00000295688:Q442H;ENSP00000357242:Q404H;ENSP00000357244:Q397H;ENSP00000431543:Q397H	ENSP00000295688:Q442H	Q	-	3	2	CCT3	154547440	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.149000	0.31626	0.704000	0.31869	0.645000	0.84053	CAG		0.577	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		7	67	1	0	0.000157383	0.00308	0.000182879	7	67				
GPATCH4	54865	broad.mit.edu	37	1	156565192	156565192	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:156565192C>T	ENST00000438976.2	-	8	971	c.941G>A	c.(940-942)gGa>gAa	p.G314E	GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_Missense_Mutation_p.G309E			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	309							poly(A) RNA binding (GO:0044822)	p.G309E(1)		autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTTTTCCTCCTTCCTCCAA	0.522																																							uc001fpm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(940-942)GGA>GAA		G patch domain containing 4 isoform 1							240.0	225.0	230.0					1																	156565192		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565192C>T	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.941G>A	1.37:g.156565192C>T	ENSP00000396441:p.Gly314Glu					APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.G309E	p.G314E	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN			8	980	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		309					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.941G>A	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	C	3.069	-0.191648	0.06299	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976	T;T	0.39056	1.1;1.1	3.8	-7.61	0.01299	.	1.366140	0.05700	N	0.593891	T	0.08403	0.0209	L	0.31926	0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14172	-1.0482	10	0.10111	T	0.7	-10.707	8.4857	0.33069	0.0:0.1351:0.2697:0.5952	.	314;309	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	E	309;309;314	ENSP00000357215:G309E;ENSP00000396441:G314E	ENSP00000357212:G309E	G	-	2	0	GPATCH4	154831816	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.145000	0.16157	-1.363000	0.02164	-0.259000	0.10710	GGA		0.522	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		42	116	0	0	0	0.007835	0	42	116				
BCAN	63827	broad.mit.edu	37	1	156617404	156617404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:156617404C>T	ENST00000329117.5	+	4	907	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.Q191*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	191	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCCCGGAGCAGCTCTATGC	0.622																																							uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(571-573)CAG>TAG		brevican isoform 1							63.0	66.0	65.0					1																	156617404		2203	4300	6503	SO:0001587	stop_gained	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617404C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.571C>T	1.37:g.156617404C>T	ENSP00000331210:p.Gln191*					BCAN_uc001fpo.2_Nonsense_Mutation_p.Q191*	p.Q191*	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	907	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		191			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	c.571C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544827	0.96488	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	.	.	.	4.26	4.26	0.50523	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.5744	15.4026	0.74852	0.0:1.0:0.0:0.0	.	.	.	.	X	191;191;89;191	.	ENSP00000331210:Q191X	Q	+	1	0	BCAN	154884028	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.573000	0.82421	2.187000	0.69744	0.442000	0.29010	CAG		0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		10	86	0	0	0	0.008291	0	10	86				
ARHGEF11	9826	broad.mit.edu	37	1	156906634	156906634	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:156906634T>G	ENST00000361409.2	-	39	5226	c.4484A>C	c.(4483-4485)cAt>cCt	p.H1495P	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.H1535P|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.H911P|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1495					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCAGTTCATGGCTGTTCCT	0.582																																							uc001fqo.2		NA																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(4483-4485)CAT>CCT		Rho guanine nucleotide exchange factor (GEF) 11							102.0	102.0	102.0					1																	156906634		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156906634T>G	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4484A>C	1.37:g.156906634T>G	ENSP00000354644:p.His1495Pro					ARHGEF11_uc010phu.1_Missense_Mutation_p.H911P|ARHGEF11_uc001fqn.2_Missense_Mutation_p.H1535P|MIR765_hsa-mir-765|MI0005116_5'Flank	p.H1495P	NM_014784	NP_055599	O15085	ARHGB_HUMAN			39	5524	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1495					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.4484A>C	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.817729	0.32145	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.68181	-0.31;-0.31;-0.22	4.72	1.04	0.20106	.	0.710439	0.12702	N	0.446309	T	0.26774	0.0655	N	0.19112	0.55	0.09310	N	1	P;B;B	0.35923	0.528;0.203;0.305	B;B;B	0.34093	0.116;0.085;0.175	T	0.08006	-1.0743	10	0.62326	D	0.03	-0.0259	6.3522	0.21383	0.0:0.3246:0.0:0.6754	.	911;1495;1535	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	P	1535;1495;911	ENSP00000357177:H1535P;ENSP00000354644:H1495P;ENSP00000313470:H911P	ENSP00000313470:H911P	H	-	2	0	ARHGEF11	155173258	0.023000	0.18921	0.002000	0.10522	0.978000	0.69477	0.218000	0.17622	0.008000	0.14787	0.459000	0.35465	CAT		0.582	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		23	103	0	0	0	0.002299	0	23	103				
FCRL5	83416	broad.mit.edu	37	1	157497563	157497563	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:157497563G>T	ENST00000361835.3	-	9	1961	c.1804C>A	c.(1804-1806)Cat>Aat	p.H602N	FCRL5_ENST00000356953.4_Missense_Mutation_p.H602N|FCRL5_ENST00000368190.3_Missense_Mutation_p.H602N|FCRL5_ENST00000368191.3_Missense_Mutation_p.H517N	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	602	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGATAAAACCAG	0.577																																							uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1804-1806)CAT>AAT		Fc receptor-like 5							64.0	67.0	66.0					1																	157497563		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157497563G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1804C>A	1.37:g.157497563G>T	ENSP00000354691:p.His602Asn					FCRL5_uc009wsm.2_Missense_Mutation_p.H602N|FCRL5_uc010phv.1_Missense_Mutation_p.H602N|FCRL5_uc010phw.1_Missense_Mutation_p.H517N	p.H602N	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			9	1962	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	602			Extracellular (Potential).|Ig-like C2-type 6.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1804C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210263	0.22289	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	3.53	3.53	0.40419	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.796261	0.10808	N	0.631905	T	0.17789	0.0427	H	0.96080	3.765	0.37884	D	0.930484	D;D;D;D	0.89917	1.0;0.998;0.988;0.994	D;D;P;D	0.77004	0.981;0.989;0.895;0.928	T	0.03728	-1.1009	10	0.44086	T	0.13	.	10.7962	0.46461	0.0:0.0:1.0:0.0	.	517;602;602;602	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	N	602;602;602;517	ENSP00000354691:H602N;ENSP00000349434:H602N;ENSP00000357173:H602N;ENSP00000357174:H517N	ENSP00000349434:H602N	H	-	1	0	FCRL5	155764187	0.997000	0.39634	0.015000	0.15790	0.035000	0.12851	4.084000	0.57650	1.981000	0.57761	0.650000	0.86243	CAT		0.577	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		16	73	1	0	4.7546e-09	0.004007	6.98602e-09	16	73				
FCRL3	115352	broad.mit.edu	37	1	157665394	157665394	+	Missense_Mutation	SNP	G	G	T	rs112099510		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:157665394G>T	ENST00000368184.3	-	8	1427	c.1136C>A	c.(1135-1137)cCg>cAg	p.P379Q	FCRL3_ENST00000368186.5_Missense_Mutation_p.P379Q|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	379						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GTGAGATACCGGAACTGAAGG	0.572																																							uc001frb.2		NA																	0				ovary(3)|breast(1)	4						c.(1135-1137)CCG>CAG		Fc receptor-like 3 precursor							33.0	34.0	33.0					1																	157665394		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665394G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1136C>A	1.37:g.157665394G>T	ENSP00000357167:p.Pro379Gln					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.P379Q|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.P105Q|FCRL3_uc001frc.1_Missense_Mutation_p.P379Q	p.P379Q	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			8	1428	-	all_hematologic(112;0.0378)		379			Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1136C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322679	0.41096	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	D;D	0.85171	-1.95;-1.95	5.56	4.66	0.58398	.	3.512700	0.01181	N	0.007094	D	0.91412	0.7290	M	0.87180	2.865	0.27223	N	0.959615	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68405	-0.5417	10	0.72032	D	0.01	.	10.3791	0.44101	0.0901:0.0:0.9099:0.0	.	379;284;379	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Q	379	ENSP00000357169:P379Q;ENSP00000357167:P379Q	ENSP00000292392:P379Q	P	-	2	0	FCRL3	155932018	1.000000	0.71417	0.873000	0.34254	0.115000	0.19883	4.431000	0.59915	1.352000	0.45808	0.655000	0.94253	CCG		0.572	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		12	45	1	0	2.80697e-09	0.010729	4.15305e-09	12	45				
SPTA1	6708	broad.mit.edu	37	1	158590119	158590119	+	Silent	SNP	C	C	T	rs368317545		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:158590119C>T	ENST00000368147.4	-	44	6438	c.6258G>A	c.(6256-6258)gaG>gaA	p.E2086E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2086					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAAGAAGTCCTCATGGTCTT	0.488																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6256-6258)GAG>GAA		spectrin, alpha, erythrocytic 1		C		0,3862		0,0,1931	81.0	77.0	78.0		6258	0.3	0.3	1		78	3,8263		0,3,4130	no	coding-synonymous	SPTA1	NM_003126.2		0,3,6061	TT,TC,CC		0.0363,0.0,0.0247		2086/2420	158590119	3,12125	1931	4133	6064	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158590119C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6258G>A	1.37:g.158590119C>T							p.E2086E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			44	6457	-	all_hematologic(112;0.0378)		2086			Spectrin 20.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6258G>A	CCDS41423.1																																																																																				0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	35	0	0	0	0.010729	0	11	35				
OR6K2	81448	broad.mit.edu	37	1	158670034	158670034	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:158670034G>T	ENST00000359610.2	-	1	452	c.409C>A	c.(409-411)Ccc>Acc	p.P137T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CATAGCTTGGGGGTCATGATA	0.488																																							uc001fsu.1		NA																	0				pancreas(1)	1						c.(409-411)CCC>ACC		olfactory receptor, family 6, subfamily K,							116.0	104.0	108.0					1																	158670034		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670034G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.409C>A	1.37:g.158670034G>T	ENSP00000352626:p.Pro137Thr						p.P137T	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	409	-	all_hematologic(112;0.0378)		137			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.409C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012540	0.35511	.	.	ENSG00000196171	ENST00000359610	T	0.39056	1.1	4.7	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.202533	0.24615	N	0.037004	T	0.20373	0.0490	L	0.56340	1.77	0.09310	N	1	P	0.51240	0.943	P	0.53224	0.721	T	0.07404	-1.0774	10	0.13853	T	0.58	-6.1976	1.2824	0.02043	0.2641:0.1492:0.4341:0.1526	.	137	Q8NGY2	OR6K2_HUMAN	T	137	ENSP00000352626:P137T	ENSP00000352626:P137T	P	-	1	0	OR6K2	156936658	0.000000	0.05858	0.402000	0.26371	0.964000	0.63967	-1.334000	0.02665	0.559000	0.29153	0.650000	0.86243	CCC		0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		12	51	1	0	1.08611e-07	0.010729	1.49384e-07	12	51				
OR6K2	81448	broad.mit.edu	37	1	158670151	158670151	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:158670151G>C	ENST00000359610.2	-	1	335	c.292C>G	c.(292-294)Ctg>Gtg	p.L98V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACATCTGCAGGAGACAACCA	0.473																																							uc001fsu.1		NA																	0				pancreas(1)	1						c.(292-294)CTG>GTG		olfactory receptor, family 6, subfamily K,							101.0	96.0	97.0					1																	158670151		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670151G>C	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.292C>G	1.37:g.158670151G>C	ENSP00000352626:p.Leu98Val						p.L98V	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	292	-	all_hematologic(112;0.0378)		98			Extracellular (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.292C>G	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560091	0.27827	.	.	ENSG00000196171	ENST00000359610	T	0.03212	4.01	4.71	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.301150	0.18205	N	0.148385	T	0.00845	0.0028	N	0.25144	0.715	0.21762	N	0.999555	B	0.23735	0.09	B	0.27076	0.076	T	0.48222	-0.9054	10	0.35671	T	0.21	-4.091	2.4737	0.04570	0.0986:0.1646:0.457:0.2798	.	98	Q8NGY2	OR6K2_HUMAN	V	98	ENSP00000352626:L98V	ENSP00000352626:L98V	L	-	1	2	OR6K2	156936775	0.000000	0.05858	0.998000	0.56505	0.983000	0.72400	-3.207000	0.00558	1.189000	0.43028	0.655000	0.94253	CTG		0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		11	48	0	0	0	0.008291	0	11	48				
OR6K3	391114	broad.mit.edu	37	1	158686986	158686986	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:158686986T>A	ENST00000368146.1	-	1	967	c.968A>T	c.(967-969)cAa>cTa	p.Q323L	OR6K3_ENST00000368145.1_Missense_Mutation_p.Q307L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAACACTTTTTGAAGACAGAA	0.388																																							uc010pip.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(967-969)CAA>CTA		olfactory receptor, family 6, subfamily K,							116.0	120.0	119.0					1																	158686986		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686986T>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.968A>T	1.37:g.158686986T>A	ENSP00000357128:p.Gln323Leu						p.Q323L	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	968	-	all_hematologic(112;0.0378)		323			Cytoplasmic (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.968A>T		.	.	.	.	.	.	.	.	.	.	T	12.97	2.095947	0.36952	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.35421	1.31;1.31	3.32	2.16	0.27623	.	.	.	.	.	T	0.06600	0.0169	N	0.12853	0.265	0.24854	N	0.992386	B	0.09022	0.002	B	0.12837	0.008	T	0.34279	-0.9835	9	0.35671	T	0.21	.	4.6361	0.12525	0.0:0.1066:0.198:0.6953	.	323	Q8NGY3	OR6K3_HUMAN	L	307;323	ENSP00000357127:Q307L;ENSP00000357128:Q323L	ENSP00000357127:Q307L	Q	-	2	0	OR6K3	156953610	0.000000	0.05858	0.005000	0.12908	0.369000	0.29798	-0.288000	0.08377	0.619000	0.30197	0.383000	0.25322	CAA		0.388	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				16	96	0	0	0	0.003163	0	16	96				
IFI16	3428	broad.mit.edu	37	1	158990202	158990202	+	Silent	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:158990202A>C	ENST00000295809.7	+	6	1299	c.1044A>C	c.(1042-1044)acA>acC	p.T348T	IFI16_ENST00000368132.3_Silent_p.T348T|IFI16_ENST00000368131.4_Silent_p.T348T|IFI16_ENST00000359709.3_Silent_p.T292T|IFI16_ENST00000448393.2_Silent_p.T348T|IFI16_ENST00000340979.6_Silent_p.T348T|IFI16_ENST00000430894.2_Silent_p.T296T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	348	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAGTGGGGACAGGACAATGTC	0.363																																							uc001ftg.2		NA																	0				ovary(1)	1						c.(1042-1044)ACA>ACC		interferon, gamma-inducible protein 16							101.0	106.0	104.0					1																	158990202		2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158990202A>C	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1044A>C	1.37:g.158990202A>C						IFI16_uc010pis.1_Silent_p.T292T	p.T348T	NM_005531	NP_005522	Q16666	IF16_HUMAN			6	1334	+	all_hematologic(112;0.0429)		348			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.1044A>C		.	.	.	.	.	.	.	.	.	.	A	3.926	-0.017157	0.07681	.	.	ENSG00000163565	ENST00000448393	.	.	.	2.64	-2.62	0.06152	.	.	.	.	.	T	0.07234	0.0183	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.35226	-0.9797	4	.	.	.	.	2.7664	0.05321	0.4732:0.1513:0.0:0.3755	.	.	.	.	P	169	.	.	Q	+	2	0	IFI16	157256826	0.000000	0.05858	0.002000	0.10522	0.084000	0.17831	-2.124000	0.01318	-0.716000	0.04962	0.459000	0.35465	CAG		0.363	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		10	31	0	0	0	0.008291	0	10	31				
OR10J1	26476	broad.mit.edu	37	1	159409967	159409967	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:159409967C>T	ENST00000423932.3	+	1	456	c.419C>T	c.(418-420)cCc>cTc	p.P140L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	140					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATCTGCAACCCCCTGAGATAC	0.488																																							uc010piv.1		NA																	0				ovary(1)	1						c.(418-420)CCC>CTC		olfactory receptor, family 10, subfamily J,							114.0	107.0	109.0					1																	159409967		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409967C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.419C>T	1.37:g.159409967C>T	ENSP00000399078:p.Pro140Leu					uc001fts.3_Intron	p.P140L	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	419	+	all_hematologic(112;0.0429)		140			Cytoplasmic (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.419C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142134	0.77775	.	.	ENSG00000196184	ENST00000423932	T	0.01902	4.57	4.58	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000947	T	0.11324	0.0276	H	0.95004	3.61	0.51012	D	0.999902	D	0.89917	1.0	D	0.97110	1.0	T	0.02512	-1.1148	10	0.87932	D	0	.	12.785	0.57500	0.0:0.834:0.166:0.0	.	140	P30954	O10J1_HUMAN	L	140	ENSP00000399078:P140L	ENSP00000399078:P140L	P	+	2	0	OR10J1	157676591	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	7.472000	0.80996	1.245000	0.43885	0.655000	0.94253	CCC		0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		23	87	0	0	0	0.002299	0	23	87				
KCNJ10	3766	broad.mit.edu	37	1	160012258	160012258	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:160012258C>G	ENST00000368089.3	-	2	291	c.65G>C	c.(64-66)gGc>gCc	p.G22A	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	22					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TATCCCTGGGCCCATTAGGGG	0.542																																					GBM(167;1368 2014 14817 36425 43215)	GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1		NA																	0				ovary(1)	1						c.(64-66)GGC>GCC		potassium inwardly-rectifying channel, subfamily							86.0	79.0	81.0					1																	160012258		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012258C>G	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.65G>C	1.37:g.160012258C>G	ENSP00000357068:p.Gly22Ala						p.G22A	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	215	-	all_hematologic(112;0.093)		22			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.65G>C	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582001	0.28180	.	.	ENSG00000177807	ENST00000368089	D	0.87887	-2.31	5.17	3.25	0.37280	.	0.587551	0.16600	N	0.207371	T	0.55737	0.1939	N	0.08118	0	0.45690	D	0.998602	B	0.18863	0.031	B	0.12156	0.007	T	0.47100	-0.9143	10	0.18276	T	0.48	.	9.8017	0.40768	0.153:0.6892:0.1578:0.0	.	22	P78508	IRK10_HUMAN	A	22	ENSP00000357068:G22A	ENSP00000357068:G22A	G	-	2	0	KCNJ10	158278882	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.670000	0.46833	0.723000	0.32274	0.591000	0.81541	GGC		0.542	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		8	62	0	0	0	0.004482	0	8	62				
NCSTN	23385	broad.mit.edu	37	1	160313244	160313244	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:160313244C>G	ENST00000294785.5	+	1	183	c.58C>G	c.(58-60)Ctt>Gtt	p.L20V	NCSTN_ENST00000368063.1_5'UTR|COPA_ENST00000368069.3_5'Flank|COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000535857.1_Missense_Mutation_p.L20V|NCSTN_ENST00000392212.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	20					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCCTTCGCCTTCTGTCTTT	0.667																																							uc001fvx.2		NA																	0				ovary(1)|lung(1)	2						c.(58-60)CTT>GTT		nicastrin precursor							34.0	43.0	40.0					1																	160313244		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160313244C>G	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.58C>G	1.37:g.160313244C>G	ENSP00000294785:p.Leu20Val					COPA_uc009wti.2_5'UTR|COPA_uc001fvv.3_5'UTR|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_5'UTR|NCSTN_uc010pjf.1_Missense_Mutation_p.L20V	p.L20V	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	182	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		20					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.58C>G	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354596	0.24512	.	.	ENSG00000162736	ENST00000294785;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008	T;T;T;T;T	0.79247	-1.23;-0.28;-0.2;-0.19;-1.25	4.82	3.91	0.45181	.	0.678662	0.13585	N	0.377066	T	0.46908	0.1417	L	0.38175	1.15	0.27475	N	0.952744	B;B	0.32101	0.356;0.243	B;B	0.33454	0.164;0.079	T	0.24440	-1.0160	10	0.20519	T	0.43	-9.1791	6.8537	0.24028	0.0:0.7295:0.1763:0.0942	.	20;20	F6Y097;Q92542	.;NICA_HUMAN	V	20	ENSP00000294785:L20V;ENSP00000415442:L20V;ENSP00000390409:L20V;ENSP00000442605:L20V;ENSP00000389370:L20V	ENSP00000294785:L20V	L	+	1	0	NCSTN	158579868	0.809000	0.29036	0.953000	0.39169	0.657000	0.38888	0.995000	0.29706	1.247000	0.43917	0.467000	0.42956	CTT		0.667	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		7	21	0	0	0	0.00308	0	7	21				
PVRL4	81607	broad.mit.edu	37	1	161044151	161044151	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:161044151T>A	ENST00000368012.3	-	6	1315	c.1013A>T	c.(1012-1014)gAc>gTc	p.D338V	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_Missense_Mutation_p.D72V	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	338					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTTCCCAGAGTCTTCCTGGGG	0.602																																					NSCLC(76;1160 1387 14476 16172 29359)	NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2		NA																	0				ovary(2)	2						c.(1012-1014)GAC>GTC		poliovirus receptor-related 4 precursor							170.0	147.0	155.0					1																	161044151		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044151T>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1013A>T	1.37:g.161044151T>A	ENSP00000356991:p.Asp338Val					PVRL4_uc010pjy.1_Missense_Mutation_p.D17V|PVRL4_uc010pjz.1_Missense_Mutation_p.D72V	p.D338V	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1312	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		338			Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1013A>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050365	0.36181	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.38077	1.16;1.16	2.97	1.97	0.26223	.	0.854582	0.10112	N	0.714545	T	0.06096	0.0158	N	0.08118	0	0.20196	N	0.999921	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.08055	0.0;0.0;0.003	T	0.41052	-0.9530	10	0.26408	T	0.33	.	7.0928	0.25293	0.0:0.0:0.6742:0.3258	.	72;17;338	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	V	338;72	ENSP00000356991:D338V;ENSP00000406015:D72V	ENSP00000356991:D338V	D	-	2	0	PVRL4	159310775	0.000000	0.05858	0.000000	0.03702	0.874000	0.50279	-0.152000	0.10159	0.469000	0.27268	0.379000	0.24179	GAC		0.602	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		10	36	0	0	0	0.008291	0	10	36				
NDUFS2	4720	broad.mit.edu	37	1	161179353	161179353	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:161179353C>T	ENST00000367993.3	+	6	1043	c.595C>T	c.(595-597)Cct>Tct	p.P199S	NDUFS2_ENST00000392179.4_Missense_Mutation_p.P199S|NDUFS2_ENST00000476409.2_Missense_Mutation_p.P101S	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	199					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GGCCATGACCCCTTTCTTCTG	0.483											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001fyv.2		NA																	0				skin(1)	1						c.(595-597)CCT>TCT		NADH dehydrogenase (ubiquinone) Fe-S protein 2	NADH(DB00157)						59.0	52.0	55.0					1																	161179353		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161179353C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.595C>T	1.37:g.161179353C>T	ENSP00000356972:p.Pro199Ser		OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	NDUFS2_uc010pki.1_Missense_Mutation_p.P101S|NDUFS2_uc001fyw.2_Missense_Mutation_p.P199S|NDUFS2_uc010pkj.1_Missense_Mutation_p.P148S|NDUFS2_uc001fyx.2_Missense_Mutation_p.P199S	p.P199S	NM_004550	NP_004541	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	1043	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		199					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.595C>T	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283078	0.80803	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	D;D;D	0.93811	-3.29;-3.29;-3.29	5.15	5.15	0.70609	NADH-quinone oxidoreductase, subunit D (1);	0.113014	0.64402	D	0.000007	D	0.97173	0.9076	M	0.90483	3.12	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;0.988;0.988	D;D;D;D	0.97110	1.0;1.0;0.919;0.919	D	0.97707	1.0188	9	0.87932	D	0	.	17.5462	0.87863	0.0:1.0:0.0:0.0	.	148;101;199;199	B7Z792;B7Z9L2;Q53HG2;O75306	.;.;.;NDUS2_HUMAN	S	199;199;101	ENSP00000356972:P199S;ENSP00000376018:P199S;ENSP00000446447:P101S	ENSP00000356972:P199S	P	+	1	0	NDUFS2	159445977	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	6.824000	0.75288	2.654000	0.90174	0.655000	0.94253	CCT		0.483	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		18	10	0	0	0	0.008871	0	18	10				
FCRLB	127943	broad.mit.edu	37	1	161693363	161693363	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:161693363A>G	ENST00000367948.2	+	5	474	c.259A>G	c.(259-261)Aca>Gca	p.T87A	FCRLB_ENST00000392158.1_Missense_Mutation_p.T87A|FCRLB_ENST00000367945.1_Missense_Mutation_p.T80A|FCRLB_ENST00000367944.3_Missense_Mutation_p.T80A|FCRLB_ENST00000367946.3_Missense_Mutation_p.T87A|FCRLB_ENST00000336830.5_Missense_Mutation_p.T87A			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	87	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TCGATGCCAGACACGGGGAGC	0.582																																							uc001gbh.2		NA																	0					0						c.(259-261)ACA>GCA		Fc receptor-like B							82.0	72.0	76.0					1																	161693363		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161693363A>G	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.259A>G	1.37:g.161693363A>G	ENSP00000356925:p.Thr87Ala					FCRLB_uc009wus.2_Missense_Mutation_p.T87A|FCRLB_uc001gbj.2_Missense_Mutation_p.T87A|FCRLB_uc001gbk.2_Missense_Mutation_p.T87A|FCRLB_uc001gbl.2_Missense_Mutation_p.T80A|FCRLB_uc001gbm.2_Missense_Mutation_p.T80A|FCRLB_uc001gbi.2_Missense_Mutation_p.T87A|FCRLB_uc001gbn.3_5'Flank	p.T87A	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	493	+	all_hematologic(112;0.0359)		87			Ig-like C2-type 1.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.259A>G	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293597	0.60086	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	T	0.05593	0.0147	N	0.21282	0.65	0.32584	N	0.528135	P;D;P;D;D	0.69078	0.885;0.997;0.942;0.997;0.995	P;P;P;P;P	0.61201	0.465;0.885;0.647;0.885;0.866	T	0.34079	-0.9843	10	0.12430	T	0.62	.	12.2058	0.54350	1.0:0.0:0.0:0.0	.	80;80;87;87;87	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	A	87;87;80;87;80;87	ENSP00000356925:T87A;ENSP00000356923:T87A;ENSP00000356922:T80A;ENSP00000338598:T87A;ENSP00000356921:T80A;ENSP00000375999:T87A	ENSP00000338598:T87A	T	+	1	0	FCRLB	159959987	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.337000	0.59310	2.125000	0.65367	0.533000	0.62120	ACA		0.582	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		13	42	0	0	0	0.001855	0	13	42				
OLFML2B	25903	broad.mit.edu	37	1	161976182	161976182	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:161976182C>A	ENST00000294794.3	-	4	1051	c.628G>T	c.(628-630)Ggc>Tgc	p.G210C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.G210C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	210					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTTTCTTTGCCTCGCTTATTC	0.448																																							uc001gbu.2		NA																	0				skin(1)	1						c.(628-630)GGC>TGC		olfactomedin-like 2B precursor							217.0	195.0	203.0					1																	161976182		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161976182C>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.628G>T	1.37:g.161976182C>A	ENSP00000294794:p.Gly210Cys					OLFML2B_uc010pkq.1_Missense_Mutation_p.G210C	p.G210C	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		4	1052	-	all_hematologic(112;0.156)		210			Potential.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.628G>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252106	0.22880	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.44881	0.91;0.91	4.74	1.7	0.24286	.	.	.	.	.	T	0.11281	0.0275	N	0.22421	0.69	0.34059	D	0.657043	P;D	0.53885	0.953;0.963	B;B	0.40101	0.319;0.302	T	0.05903	-1.0857	8	0.59425	D	0.04	.	5.0211	0.14361	0.1706:0.6419:0.0:0.1875	.	210;210	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	C	210	ENSP00000294794:G210C;ENSP00000356917:G210C	ENSP00000294794:G210C	G	-	1	0	OLFML2B	160242806	0.111000	0.22076	0.933000	0.37362	0.142000	0.21351	0.234000	0.17930	0.487000	0.27698	0.561000	0.74099	GGC		0.448	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		28	94	1	0	1.32181e-22	0.007291	2.4612e-22	28	94				
OLFML2B	25903	broad.mit.edu	37	1	161976233	161976233	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:161976233C>T	ENST00000294794.3	-	4	1000	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E193K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	193					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTGATTTGTTCATTTTCCTTG	0.418																																							uc001gbu.2		NA																	0				skin(1)	1						c.(577-579)GAA>AAA		olfactomedin-like 2B precursor							152.0	138.0	143.0					1																	161976233		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161976233C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.577G>A	1.37:g.161976233C>T	ENSP00000294794:p.Glu193Lys					OLFML2B_uc010pkq.1_Missense_Mutation_p.E193K	p.E193K	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		4	1001	-	all_hematologic(112;0.156)		193			Potential.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.577G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	8.981	0.975248	0.18736	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.45276	0.9;0.9	4.74	1.82	0.25136	.	.	.	.	.	T	0.13200	0.0320	L	0.29908	0.895	0.29422	N	0.860482	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.001	T	0.09335	-1.0679	8	0.40728	T	0.16	.	8.8686	0.35303	0.0:0.7429:0.0:0.2571	.	193;193	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	K	193	ENSP00000294794:E193K;ENSP00000356917:E193K	ENSP00000294794:E193K	E	-	1	0	OLFML2B	160242857	0.042000	0.20092	0.120000	0.21714	0.317000	0.28152	0.545000	0.23268	0.166000	0.19597	-0.254000	0.11334	GAA		0.418	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		16	59	0	0	0	0.003163	0	16	59				
RGS4	5999	broad.mit.edu	37	1	163042650	163042650	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:163042650C>A	ENST00000367909.6	+	3	545	c.205C>A	c.(205-207)Cat>Aat	p.H69N	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.H51N|RGS4_ENST00000421743.2_Missense_Mutation_p.H166N|RGS4_ENST00000527809.1_Missense_Mutation_p.H51N|RGS4_ENST00000367908.4_Missense_Mutation_p.H69N|RGS4_ENST00000531057.1_Missense_Mutation_p.H69N	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	69	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTGATTAGTCATGAATGTAA	0.403																																					Ovarian(76;1257 1738 3039 6086)	Ovarian(76;1257 1738 3039 6086)	uc009wuy.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(205-207)CAT>AAT		regulator of G-protein signaling 4 isoform 2							80.0	77.0	78.0					1																	163042650		2203	4300	6503	SO:0001583	missense	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163042650C>A	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.205C>A	1.37:g.163042650C>A	ENSP00000356885:p.His69Asn					RGS4_uc001gcl.3_Missense_Mutation_p.H166N|RGS4_uc009wuz.2_Missense_Mutation_p.H69N|RGS4_uc009wva.2_Missense_Mutation_p.H51N	p.H69N	NM_005613	NP_005604	P49798	RGS4_HUMAN			3	716	+			69			RGS.		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	c.205C>A	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	C	6.112	0.388835	0.11581	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000527809;ENST00000367908;ENST00000367906;ENST00000528938	T;T;T;T;T;T	0.60171	0.21;0.21;4.48;0.21;0.21;4.69	4.23	4.23	0.50019	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.123195	0.53938	D	0.000049	T	0.10981	0.0268	N	0.01751	-0.74	0.46096	D	0.998861	B;B;B	0.27229	0.172;0.002;0.027	B;B;B	0.25291	0.059;0.014;0.057	T	0.24905	-1.0147	10	0.07482	T	0.82	.	9.4061	0.38462	0.2123:0.7877:0.0:0.0	.	69;69;166	B1APZ3;P49798;A7XA59	.;RGS4_HUMAN;.	N	166;69;69;51;69;51;51	ENSP00000397181:H166N;ENSP00000356885:H69N;ENSP00000436106:H69N;ENSP00000433261:H51N;ENSP00000356882:H51N;ENSP00000432194:H51N	ENSP00000356882:H51N	H	+	1	0	RGS4	161309274	0.834000	0.29399	1.000000	0.80357	0.985000	0.73830	1.571000	0.36450	2.162000	0.67917	0.655000	0.94253	CAT		0.403	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		6	18	1	0	5.18039e-06	0.00308	6.58689e-06	6	18				
RXRG	6258	broad.mit.edu	37	1	165380219	165380219	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:165380219T>C	ENST00000359842.5	-	5	1052	c.750A>G	c.(748-750)acA>acG	p.T250T	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	250	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CATAGGATTCTGTCTTTGGTT	0.478																																							uc001gda.2		NA																	0					0						c.(748-750)ACA>ACG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						171.0	138.0	149.0					1																	165380219		2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380219T>C	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.750A>G	1.37:g.165380219T>C							p.T250T	NM_006917	NP_008848	P48443	RXRG_HUMAN			5	1050	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		250			Hinge.		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.750A>G	CCDS1248.1																																																																																				0.478	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		14	41	0	0	0	0.003163	0	14	41				
POGK	57645	broad.mit.edu	37	1	166818420	166818420	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:166818420G>A	ENST00000367875.1	+	5	964	c.604G>A	c.(604-606)Gca>Aca	p.A202T	POGK_ENST00000536514.1_Missense_Mutation_p.A117T|POGK_ENST00000537173.1_Missense_Mutation_p.A84T|POGK_ENST00000367876.4_Missense_Mutation_p.A202T			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	202					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						CAGTTACGACGCAGGGTTCAA	0.542																																					GBM(76;192 1530 30153 48742)	GBM(76;192 1530 30153 48742)	uc001gdt.1		NA																	0				ovary(1)	1						c.(604-606)GCA>ACA		pogo transposable element with KRAB domain							66.0	61.0	62.0					1																	166818420		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818420G>A	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.604G>A	1.37:g.166818420G>A	ENSP00000356849:p.Ala202Thr					POGK_uc010ple.1_Missense_Mutation_p.A117T|POGK_uc010plf.1_Missense_Mutation_p.A84T	p.A202T	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	724	+			202					Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.604G>A	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099076	0.76983	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.35236	1.33;1.32;4.33;4.59;4.59	5.39	4.48	0.54585	Brinker DNA-binding domain (1);	0.000000	0.48767	D	0.000163	T	0.39655	0.1086	L	0.58583	1.82	0.31439	N	0.672169	P;D;D	0.89917	0.95;0.995;1.0	B;P;D	0.87578	0.398;0.873;0.998	T	0.30060	-0.9991	9	0.21540	T	0.41	-26.7737	11.6531	0.51301	0.0849:0.0:0.9151:0.0	.	84;117;202	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	T	84;117;202;202;202	ENSP00000442763:A84T;ENSP00000441187:A117T;ENSP00000404402:A202T;ENSP00000356850:A202T;ENSP00000356849:A202T	ENSP00000356849:A202T	A	+	1	0	POGK	165085044	1.000000	0.71417	0.504000	0.27639	0.979000	0.70002	5.512000	0.67030	1.502000	0.48669	0.655000	0.94253	GCA		0.542	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		9	35	0	0	0	0.006214	0	9	35				
MAEL	84944	broad.mit.edu	37	1	166973514	166973514	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:166973514A>T	ENST00000367872.4	+	6	865	c.621A>T	c.(619-621)ccA>ccT	p.P207P	RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000367870.2_Silent_p.P176P|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	207					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ATCCCAACCCAGGGAACTGGC	0.348																																							uc001gdy.1		NA																	0				skin(1)	1						c.(619-621)CCA>CCT		maelstrom homolog							75.0	77.0	76.0					1																	166973514		2203	4300	6503	SO:0001819	synonymous_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166973514A>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.621A>T	1.37:g.166973514A>T						MAEL_uc001gdz.1_Silent_p.P176P|MAEL_uc009wvf.1_RNA	p.P207P	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			6	692	+			207					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	c.621A>T	CCDS1257.1																																																																																				0.348	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		5	41	0	0	0	0.000602	0	5	41				
MAEL	84944	broad.mit.edu	37	1	166990948	166990948	+	Silent	SNP	C	C	T	rs146423777		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:166990948C>T	ENST00000367872.4	+	12	1405	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	MAEL_ENST00000367870.2_Silent_p.S356S|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	387					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAAACAGCAGCGTTCGGGGAA	0.378																																							uc001gdy.1		NA																	0				skin(1)	1						c.(1159-1161)AGC>AGT		maelstrom homolog		C		0,4406		0,0,2203	88.0	86.0	87.0		1161	-1.3	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAEL	NM_032858.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		387/435	166990948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166990948C>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1161C>T	1.37:g.166990948C>T						MAEL_uc001gdz.1_Silent_p.S356S|MAEL_uc009wvf.1_RNA	p.S387S	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			12	1232	+			387					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	c.1161C>T	CCDS1257.1																																																																																				0.378	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		23	20	0	0	0	0.00333	0	23	20				
DUSP27	92235	broad.mit.edu	37	1	167097512	167097512	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:167097512C>T	ENST00000361200.2	+	6	3310	c.3144C>T	c.(3142-3144)tcC>tcT	p.S1048S	DUSP27_ENST00000271385.5_Silent_p.S1048S|DUSP27_ENST00000443333.1_Silent_p.S1048S|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1048					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCCAGAGTCCTCAGAAAGGG	0.562																																							uc001geb.1		NA																	0				ovary(3)	3						c.(3142-3144)TCC>TCT		dual specificity phosphatase 27							31.0	36.0	34.0					1																	167097512		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097512C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3144C>T	1.37:g.167097512C>T							p.S1048S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3144	+			1048					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.3144C>T	CCDS30932.1																																																																																				0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		6	25	0	0	0	0.001984	0	6	25				
F5	2153	broad.mit.edu	37	1	169519150	169519150	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:169519150G>A	ENST00000367797.3	-	10	1701	c.1500C>T	c.(1498-1500)tgC>tgT	p.C500C	F5_ENST00000546081.1_3'UTR|F5_ENST00000367796.3_Silent_p.C500C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	500	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTTGTTAAGCACTGGGCAT	0.453																																							uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1498-1500)TGC>TGT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						243.0	213.0	223.0					1																	169519150		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519150G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1500C>T	1.37:g.169519150G>A						F5_uc010plr.1_RNA	p.C500C	NM_000130	NP_000121	P12259	FA5_HUMAN			10	1645	-	all_hematologic(923;0.208)		500			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.1500C>T	CCDS1281.1																																																																																				0.453	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		36	46	0	0	0	0.003271	0	36	46				
TNN	63923	broad.mit.edu	37	1	175067674	175067674	+	Missense_Mutation	SNP	G	G	T	rs149504279	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:175067674G>T	ENST00000239462.4	+	9	2175	c.2062G>T	c.(2062-2064)Gtg>Ttg	p.V688L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	688	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.V688M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CATGGTGCACGTGTGGGCCCA	0.612													G|||	65	0.0129792	0.0	0.0	5008	,	,		18702	0.001		0.0	False		,,,				2504	0.0654						uc001gkl.1		NA																	1	Substitution - Missense(1)		NS(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2062-2064)GTG>TTG		tenascin N precursor		G	LEU/VAL	0,4406		0,0,2203	93.0	83.0	86.0		2062	4.2	1.0	1	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TNN	NM_022093.1	32	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	688/1300	175067674	2,13004	2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067674G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2062G>T	1.37:g.175067674G>T	ENSP00000239462:p.Val688Leu					TNN_uc010pmx.1_Missense_Mutation_p.V599L	p.V688L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	2175	+		Breast(1374;0.000962)	688			Fibronectin type-III 5.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2062G>T	CCDS30943.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.63	3.176983	0.57692	0.0	2.33E-4	ENSG00000120332	ENST00000239462	T	0.72282	-0.64	5.15	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.199290	0.45867	D	0.000327	T	0.73329	0.3573	L	0.45470	1.425	0.41969	D	0.990747	P;D	0.56287	0.524;0.975	P;D	0.66196	0.484;0.942	T	0.67601	-0.5629	10	0.18710	T	0.47	.	8.4309	0.32757	0.0:0.2162:0.6316:0.1522	.	688;688	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	688	ENSP00000239462:V688L	ENSP00000239462:V688L	V	+	1	0	TNN	173334297	0.558000	0.26554	0.953000	0.39169	0.574000	0.36063	0.962000	0.29280	2.555000	0.86185	0.467000	0.42956	GTG		0.612	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		21	78	1	0	2.44723e-14	0.004656	4.19384e-14	21	78				
TNN	63923	broad.mit.edu	37	1	175097863	175097863	+	Missense_Mutation	SNP	C	C	A	rs113025105	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:175097863C>A	ENST00000239462.4	+	15	3424	c.3311C>A	c.(3310-3312)aCg>aAg	p.T1104K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1104	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACATGGAAACGGACGGAGGT	0.587																																							uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3310-3312)ACG>AAG		tenascin N precursor							97.0	92.0	94.0					1																	175097863		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097863C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3311C>A	1.37:g.175097863C>A	ENSP00000239462:p.Thr1104Lys						p.T1104K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	15	3424	+		Breast(1374;0.000962)	1104			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3311C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399819	0.62177	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.79554	-1.28	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	M	0.83953	2.67	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	D	0.91407	0.5148	10	0.87932	D	0	.	15.2509	0.73545	0.0:1.0:0.0:0.0	.	1104	Q9UQP3	TENN_HUMAN	K	1104;927	ENSP00000239462:T1104K	ENSP00000239462:T1104K	T	+	2	0	TNN	173364486	1.000000	0.71417	0.991000	0.47740	0.223000	0.24884	5.465000	0.66725	2.385000	0.81259	0.462000	0.41574	ACG		0.587	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		8	45	1	0	0.000274275	0.004482	0.000314197	8	45				
TNR	7143	broad.mit.edu	37	1	175331847	175331847	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:175331847C>T	ENST00000367674.2	-	14	3514	c.2806G>A	c.(2806-2808)Gtg>Atg	p.V936M	TNR_ENST00000263525.2_Missense_Mutation_p.V936M			Q92752	TENR_HUMAN	tenascin R	936	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCCCCGCACGCTGTTGAGG	0.552																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2806-2808)GTG>ATG		tenascin R precursor							209.0	173.0	185.0					1																	175331847		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331847C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2806G>A	1.37:g.175331847C>T	ENSP00000356646:p.Val936Met					TNR_uc009wwu.1_Missense_Mutation_p.V936M	p.V936M	NM_003285	NP_003276	Q92752	TENR_HUMAN			12	2887	-	Renal(580;0.146)		936			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2806G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332542	0.81801	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.62639	0.01;0.01	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75482	-0.3302	10	0.37606	T	0.19	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	936	Q92752	TENR_HUMAN	M	936;936;846	ENSP00000356646:V936M;ENSP00000263525:V936M	ENSP00000263525:V936M	V	-	1	0	TNR	173598470	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.161000	0.64935	2.625000	0.88918	0.650000	0.86243	GTG		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	62	0	0	0	0.006122	0	19	62				
RFWD2	64326	broad.mit.edu	37	1	175996778	175996778	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:175996778C>A	ENST00000367669.3	-	15	2173	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	RFWD2_ENST00000308769.8_Missense_Mutation_p.E529D	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	553					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGCCTTTGCCTCAATGCTTG	0.403																																					Ovarian(134;1413 1765 5706 35534 51541)	Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NA																	0					0						c.(1657-1659)GAG>GAT		ring finger and WD repeat domain 2 isoform a							102.0	86.0	92.0					1																	175996778		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175996778C>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1659G>T	1.37:g.175996778C>A	ENSP00000356641:p.Glu553Asp					RFWD2_uc001gkv.1_Missense_Mutation_p.E529D|RFWD2_uc001gkw.1_Missense_Mutation_p.E313D|RFWD2_uc009wwv.2_Missense_Mutation_p.E352D|RFWD2_uc001gkt.1_Missense_Mutation_p.E392D	p.E553D	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			15	1915	-			553			WD 4.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.1659G>T	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706307	0.30232	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.70516	-0.49;-0.49;-0.49	5.73	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	N	0.17901	0.54	0.53688	D	0.999979	P;P;P;D;D	0.57257	0.652;0.699;0.724;0.979;0.979	P;P;B;D;D	0.74023	0.498;0.848;0.361;0.982;0.973	T	0.60156	-0.7318	10	0.10636	T	0.68	-19.2099	8.2113	0.31486	0.0:0.5888:0.0:0.4112	.	328;313;529;553;553	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	D	328;553;388;529	ENSP00000356641:E553D;ENSP00000356638:E388D;ENSP00000310943:E529D	ENSP00000310943:E529D	E	-	3	2	RFWD2	174263401	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.443000	0.21644	0.765000	0.33221	0.650000	0.86243	GAG		0.403	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		9	22	1	0	3.86212e-05	0.008291	4.67636e-05	9	22				
PAPPA2	60676	broad.mit.edu	37	1	176708847	176708847	+	Missense_Mutation	SNP	C	C	A	rs368670186	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:176708847C>A	ENST00000367662.3	+	13	5048	c.3884C>A	c.(3883-3885)cCg>cAg	p.P1295Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1295					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATCAGCAGCCGACAGTGACT	0.483																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3883-3885)CCG>CAG		pappalysin 2 isoform 1							64.0	63.0	63.0					1																	176708847		1979	4169	6148	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176708847C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3884C>A	1.37:g.176708847C>A	ENSP00000356634:p.Pro1295Gln					PAPPA2_uc009www.2_RNA	p.P1295Q	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			13	5048	+			1295					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3884C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534066	0.27475	.	.	ENSG00000116183	ENST00000367662	T	0.01527	4.8	5.67	5.67	0.87782	.	0.478896	0.23777	N	0.044671	T	0.04452	0.0122	M	0.67953	2.075	0.42527	D	0.993026	P	0.42123	0.771	B	0.41894	0.369	T	0.47262	-0.9131	10	0.41790	T	0.15	-1.1778	17.5513	0.87876	0.0:1.0:0.0:0.0	.	1295	Q9BXP8	PAPP2_HUMAN	Q	1295	ENSP00000356634:P1295Q	ENSP00000356634:P1295Q	P	+	2	0	PAPPA2	174975470	0.027000	0.19231	0.988000	0.46212	0.201000	0.24016	2.130000	0.42064	2.667000	0.90743	0.561000	0.74099	CCG		0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			11	27	1	0	1.08611e-07	0.010729	1.49384e-07	11	27				
PAPPA2	60676	broad.mit.edu	37	1	176734887	176734887	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:176734887G>C	ENST00000367662.3	+	15	5401	c.4237G>C	c.(4237-4239)Ggc>Cgc	p.G1413R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1413	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACCTCTATAGGCCCAGGTCT	0.517																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4237-4239)GGC>CGC		pappalysin 2 isoform 1							171.0	166.0	168.0					1																	176734887		2062	4209	6271	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734887G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4237G>C	1.37:g.176734887G>C	ENSP00000356634:p.Gly1413Arg					PAPPA2_uc009www.2_RNA	p.G1413R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			15	5401	+			1413			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4237G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	2.835	-0.241865	0.05906	.	.	ENSG00000116183	ENST00000367662	T	0.01599	4.74	5.69	1.37	0.22104	Sushi/SCR/CCP (1);	0.436372	0.25875	N	0.027740	T	0.02083	0.0065	M	0.71581	2.175	0.25481	N	0.987732	B	0.33549	0.417	B	0.29598	0.104	T	0.43956	-0.9359	10	0.11485	T	0.65	-10.8608	7.4655	0.27320	0.263:0.1243:0.6127:0.0	.	1413	Q9BXP8	PAPP2_HUMAN	R	1413	ENSP00000356634:G1413R	ENSP00000356634:G1413R	G	+	1	0	PAPPA2	175001510	0.881000	0.30235	0.430000	0.26722	0.448000	0.32197	1.531000	0.36018	0.400000	0.25396	0.655000	0.94253	GGC		0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			24	85	0	0	0	0.00333	0	24	85				
PAPPA2	60676	broad.mit.edu	37	1	176809373	176809373	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:176809373G>C	ENST00000367662.3	+	22	6431	c.5267G>C	c.(5266-5268)gGa>gCa	p.G1756A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1756					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TATGACGGGGGAGACTGCTGC	0.537																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5266-5268)GGA>GCA		pappalysin 2 isoform 1							139.0	137.0	137.0					1																	176809373		1992	4155	6147	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176809373G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5267G>C	1.37:g.176809373G>C	ENSP00000356634:p.Gly1756Ala					PAPPA2_uc009www.2_RNA	p.G1756A	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			22	6431	+			1756					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5267G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203519	0.95033	.	.	ENSG00000116183	ENST00000367662	D	0.93859	-3.3	5.44	5.44	0.79542	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97037	0.9754	10	0.72032	D	0.01	-12.7353	18.8699	0.92309	0.0:0.0:1.0:0.0	.	1756	Q9BXP8	PAPP2_HUMAN	A	1756	ENSP00000356634:G1756A	ENSP00000356634:G1756A	G	+	2	0	PAPPA2	175075996	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.729000	0.91490	2.544000	0.85801	0.655000	0.94253	GGA		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	95	0	0	0	0.00333	0	23	95				
PAPPA2	60676	broad.mit.edu	37	1	176811528	176811528	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:176811528G>T	ENST00000367662.3	+	23	6478	c.5314G>T	c.(5314-5316)Gct>Tct	p.A1772S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1772					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATTCCATTTGCTGCTGACTG	0.502																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5314-5316)GCT>TCT		pappalysin 2 isoform 1							112.0	110.0	110.0					1																	176811528		1930	4148	6078	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176811528G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5314G>T	1.37:g.176811528G>T	ENSP00000356634:p.Ala1772Ser					PAPPA2_uc009www.2_RNA|uc001gla.1_5'Flank	p.A1772S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			23	6478	+			1772					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5314G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195282	0.58017	.	.	ENSG00000116183	ENST00000367662	T	0.01647	4.71	5.63	5.63	0.86233	.	0.067581	0.64402	D	0.000017	T	0.02688	0.0081	L	0.44542	1.39	0.80722	D	1	B	0.29988	0.264	B	0.30716	0.119	T	0.56511	-0.7967	10	0.46703	T	0.11	-14.1194	14.0381	0.64658	0.0:0.0:0.8485:0.1515	.	1772	Q9BXP8	PAPP2_HUMAN	S	1772	ENSP00000356634:A1772S	ENSP00000356634:A1772S	A	+	1	0	PAPPA2	175078151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.598000	0.74122	2.652000	0.90054	0.655000	0.94253	GCT		0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			5	33	1	0	2.0095e-06	0.001984	2.62175e-06	5	33				
ASTN1	460	broad.mit.edu	37	1	176857216	176857216	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:176857216G>C	ENST00000367654.3	-	18	3300	c.3089C>G	c.(3088-3090)cCa>cGa	p.P1030R	ASTN1_ENST00000424564.2_Missense_Mutation_p.P1022R|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1022R|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1022R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1030	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGCTGTGGGAGAGGCGC	0.502																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3064-3066)CCA>CGA		astrotactin isoform 1							91.0	83.0	86.0					1																	176857216		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857216G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3089C>G	1.37:g.176857216G>C	ENSP00000356626:p.Pro1030Arg					ASTN1_uc001glb.1_Missense_Mutation_p.P1022R|ASTN1_uc001gld.1_Missense_Mutation_p.P1022R	p.P1022R	NM_004319	NP_004310	O14525	ASTN1_HUMAN			18	3277	-			1030			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3065C>G		.	.	.	.	.	.	.	.	.	.	G	17.11	3.305182	0.60305	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.85078	0.0944	10	0.56958	D	0.05	-15.3508	19.5873	0.95495	0.0:0.0:1.0:0.0	.	1022;1022	O14525-2;B1AJS1	.;.	R	1022;1022;1030;1022;1022	ENSP00000356629:P1022R;ENSP00000354536:P1022R;ENSP00000356626:P1030R;ENSP00000395041:P1022R	ENSP00000354536:P1022R	P	-	2	0	ASTN1	175123839	1.000000	0.71417	0.975000	0.42487	0.247000	0.25773	6.253000	0.72453	2.729000	0.93468	0.585000	0.79938	CCA		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	52	0	0	0	0.004672	0	3	52				
ASTN1	460	broad.mit.edu	37	1	177133679	177133679	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:177133679A>T	ENST00000367654.3	-	1	345	c.134T>A	c.(133-135)cTg>cAg	p.L45Q	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.L45Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.L45Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.L45Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	45					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGGAAGGGCAGTGCCGACAC	0.662																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(133-135)CTG>CAG		astrotactin isoform 1							80.0	67.0	72.0					1																	177133679		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133679A>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.134T>A	1.37:g.177133679A>T	ENSP00000356626:p.Leu45Gln					ASTN1_uc001glb.1_Missense_Mutation_p.L45Q|ASTN1_uc001gld.1_Missense_Mutation_p.L45Q|ASTN1_uc009wwx.1_Missense_Mutation_p.L45Q	p.L45Q	NM_004319	NP_004310	O14525	ASTN1_HUMAN			1	346	-			45					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.134T>A		.	.	.	.	.	.	.	.	.	.	A	21.2	4.117549	0.77323	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.22539	1.95;2.36;2.36;1.95	2.95	2.95	0.34219	.	0.000000	0.48767	U	0.000178	T	0.38134	0.1029	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.997	D;D;D	0.78314	0.991;0.991;0.991	T	0.22312	-1.0220	10	0.87932	D	0	-10.8505	11.14	0.48398	1.0:0.0:0.0:0.0	.	45;45;45	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	Q	45	ENSP00000356629:L45Q;ENSP00000354536:L45Q;ENSP00000356626:L45Q;ENSP00000395041:L45Q	ENSP00000354536:L45Q	L	-	2	0	ASTN1	175400302	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.356000	0.90085	1.360000	0.45960	0.323000	0.21402	CTG		0.662	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		8	26	0	0	0	0.008291	0	8	26				
TEX35	84066	broad.mit.edu	37	1	178485794	178485794	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:178485794T>A	ENST00000319416.2	+	5	373	c.261T>A	c.(259-261)ttT>ttA	p.F87L	TEX35_ENST00000367639.1_Missense_Mutation_p.F95L|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000258298.2_Missense_Mutation_p.F11L|TEX35_ENST00000367643.3_Missense_Mutation_p.F87L|TEX35_ENST00000367641.3_Missense_Mutation_p.F87L	NM_032126.4	NP_115502.2			testis expressed 35																		TTCACGAATTTGTGGAAATTA	0.438																																							uc001glt.1		NA																	0					0						c.(259-261)TTT>TTA		hypothetical protein LOC84066							111.0	98.0	103.0					1																	178485794		2202	4300	6502	SO:0001583	missense	84066					microtubule cytoskeleton		g.chr1:178485794T>A	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.261T>A	1.37:g.178485794T>A	ENSP00000323795:p.Phe87Leu					C1orf49_uc001glu.1_Missense_Mutation_p.F87L|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Missense_Mutation_p.F95L	p.F87L	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN			5	373	+			87			Potential.			Missense_Mutation	SNP	ENST00000319416.2	37	c.261T>A	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755085	0.69648	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.12	-7.44	0.01379	.	0.000000	0.46758	D	0.000278	T	0.20780	0.0500	L	0.50333	1.59	0.27157	N	0.961263	P;P;P	0.46142	0.506;0.703;0.873	B;B;B	0.42555	0.319;0.391;0.391	T	0.25082	-1.0142	10	0.87932	D	0	-15.6337	14.0458	0.64704	0.0:0.3923:0.0:0.6077	.	95;87;87	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	L	87;11;87;87;95	ENSP00000323795:F87L;ENSP00000258298:F11L;ENSP00000356615:F87L;ENSP00000356613:F87L;ENSP00000356611:F95L	ENSP00000258298:F11L	F	+	3	2	C1orf49	176752417	0.468000	0.25839	0.774000	0.31636	0.887000	0.51463	-1.296000	0.02762	-1.441000	0.01958	-0.904000	0.02843	TTT		0.438	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		4	15	0	0	0	0.000602	0	4	15				
TOR1AIP1	26092	broad.mit.edu	37	1	179870504	179870504	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:179870504G>T	ENST00000606911.2	+	5	911	c.720G>T	c.(718-720)agG>agT	p.R240S	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.R119S|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.R241S|RN7SL230P_ENST00000580835.1_RNA|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R241S|TOR1AIP1_ENST00000474875.1_3'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	240					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CCAGATCCAGGGATTCTGATG	0.338																																							uc001gnq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(718-720)AGG>AGT		lamina-associated polypeptide 1B							66.0	62.0	63.0					1																	179870504		2203	4300	6503	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179870504G>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.720G>T	1.37:g.179870504G>T	ENSP00000476687:p.Arg240Ser					TOR1AIP1_uc001gnp.1_Missense_Mutation_p.R241S	p.R240S	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			5	938	+			240			Nuclear (Potential).		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.720G>T	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.586|2.586	-0.296246|-0.296246	0.05532|0.05532	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000527391|ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	.|T;T;T	.|0.25085	.|1.82;1.82;1.82	4.05|4.05	3.13|3.13	0.36017|0.36017	.|.	.|1.384710	.|0.04469	.|N	.|0.375641	.|T	.|0.17746	.|0.0426	N|N	0.14661|0.14661	0.345|0.345	0.26220|0.26220	N|N	0.979179|0.979179	.|B;B	.|0.21071	.|0.005;0.051	.|B;B	.|0.21151	.|0.005;0.033	.|T	.|0.20009	.|-1.0288	.|9	.|.	.|.	.|.	0.0071|0.0071	10.1127|10.1127	0.42572|0.42572	0.0:0.2019:0.7981:0.0|0.0:0.2019:0.7981:0.0	.|.	.|240;241	.|Q5JTV8;E9PKD1	.|TOIP1_HUMAN;.	X|S	117|241;240;241;240	.|ENSP00000435365:R241S;ENSP00000271583:R241S;ENSP00000393292:R240S	.|.	G|R	+|+	1|3	0|2	TOR1AIP1|TOR1AIP1	178137127|178137127	0.807000|0.807000	0.29009|0.29009	0.952000|0.952000	0.39060|0.39060	0.034000|0.034000	0.12701|0.12701	0.226000|0.226000	0.17776|0.17776	1.270000|1.270000	0.44297|0.44297	0.563000|0.563000	0.77884|0.77884	GGA|AGG		0.338	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		5	24	1	0	0.000602214	0.000602	0.000676645	5	24				
CACNA1E	777	broad.mit.edu	37	1	181707532	181707532	+	Silent	SNP	G	G	T	rs567758950		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:181707532G>T	ENST00000367573.2	+	24	3582	c.3582G>T	c.(3580-3582)acG>acT	p.T1194T	CACNA1E_ENST00000367567.4_Silent_p.T801T|CACNA1E_ENST00000358338.5_Silent_p.T1126T|CACNA1E_ENST00000526775.1_Silent_p.T1175T|CACNA1E_ENST00000367570.1_Silent_p.T1194T|CACNA1E_ENST00000357570.5_Silent_p.T1145T|CACNA1E_ENST00000360108.3_Silent_p.T1175T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1194					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.T1194T(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCACGGGCGTGTTCA	0.473																																							uc001gow.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3580-3582)ACG>ACT		calcium channel, voltage-dependent, R type,							269.0	277.0	275.0					1																	181707532		1929	4141	6070	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181707532G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3582G>T	1.37:g.181707532G>T						CACNA1E_uc009wxs.2_Silent_p.T1082T|CACNA1E_uc001gox.1_Silent_p.T420T|CACNA1E_uc009wxt.2_Silent_p.T420T	p.T1194T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			24	3747	+			1194			III.|Helical; Name=S2 of repeat III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3582G>T	CCDS55664.1																																																																																				0.473	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		108	121	1	0	1.09637e-55	0.00361	2.13741e-55	108	121				
LAMC1	3915	broad.mit.edu	37	1	183106963	183106963	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:183106963G>T	ENST00000258341.4	+	26	4730		c.e26+1		RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GGCAGGGATGGTAAGAGGTTT	0.383																																							uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.e26+1		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						82.0	81.0	81.0					1																	183106963		2203	4300	6503	SO:0001630	splice_region_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183106963G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4473+1G>T	1.37:g.183106963G>T							p.M1491_splice	NM_002293	NP_002284	P11047	LAMC1_HUMAN			26	4730	+								Q5VYE7	Splice_Site	SNP	ENST00000258341.4	37	c.4473_splice	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354649	0.82243	.	.	ENSG00000135862	ENST00000258341	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7095	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMC1	181373586	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	8.810000	0.91950	2.647000	0.89833	0.655000	0.94253	.		0.383	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	Intron	12	11	1	0	5.50884e-06	0.001368	6.94735e-06	12	11				
SMG7	9887	broad.mit.edu	37	1	183514116	183514116	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:183514116G>T	ENST00000347615.2	+	16	2158	c.2039G>T	c.(2038-2040)gGc>gTc	p.G680V	SMG7_ENST00000508461.1_Missense_Mutation_p.G638V|SMG7_ENST00000456731.2_Missense_Mutation_p.G592V|SMG7_ENST00000367537.3_Missense_Mutation_p.G663V|SMG7_ENST00000507469.1_Missense_Mutation_p.G634V|SMG7_ENST00000515829.2_Missense_Mutation_p.G634V	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	680	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTCTATGGGCTCAGGTTAC	0.488																																							uc001gqg.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2038-2040)GGC>GTC		SMG-7 homolog isoform 1							129.0	134.0	132.0					1																	183514116		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514116G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2039G>T	1.37:g.183514116G>T	ENSP00000340766:p.Gly680Val					SMG7_uc010pob.1_Missense_Mutation_p.G663V|SMG7_uc001gqf.2_Missense_Mutation_p.G634V|SMG7_uc001gqh.2_Missense_Mutation_p.G634V|SMG7_uc001gqi.2_Missense_Mutation_p.G592V|SMG7_uc010poc.1_Missense_Mutation_p.G638V	p.G680V	NM_173156	NP_775179	Q92540	SMG7_HUMAN			16	2161	+			680			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2039G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327178	0.41197	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.55	5.55	0.83447	.	0.144833	0.64402	D	0.000009	T	0.34513	0.0900	N	0.08118	0	0.58432	D	0.999998	B;B;B;B;B;B	0.34103	0.437;0.18;0.079;0.13;0.437;0.18	B;B;B;B;B;B	0.35607	0.098;0.048;0.021;0.103;0.206;0.076	T	0.33828	-0.9853	10	0.54805	T	0.06	-10.5678	19.5043	0.95108	0.0:0.0:1.0:0.0	.	638;663;592;634;680;634	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	V	592;663;638;592;680;634;634	ENSP00000407629:G592V;ENSP00000356507:G663V;ENSP00000426915:G638V;ENSP00000388390:G592V;ENSP00000340766:G680V;ENSP00000425133:G634V;ENSP00000421358:G634V	ENSP00000340766:G680V	G	+	2	0	SMG7	181780739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.018000	0.57174	2.607000	0.88179	0.561000	0.74099	GGC		0.488	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		17	151	1	0	3.41278e-10	0.00499	5.20335e-10	17	151				
FAM129A	116496	broad.mit.edu	37	1	184764355	184764355	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:184764355G>A	ENST00000367511.3	-	14	2736	c.2543C>T	c.(2542-2544)tCt>tTt	p.S848F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	848	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GATGGGGTCAGAACCTAAGGT	0.602																																							uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.(2542-2544)TCT>TTT		niban protein isoform 2							92.0	73.0	79.0					1																	184764355		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764355G>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2543C>T	1.37:g.184764355G>A	ENSP00000356481:p.Ser848Phe					FAM129A_uc001grb.1_Intron	p.S848F	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2737	-			848			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2543C>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709404	0.48517	.	.	ENSG00000135842	ENST00000367511	T	0.19938	2.11	4.67	2.68	0.31781	.	1.519620	0.03563	N	0.227347	T	0.19525	0.0469	L	0.29908	0.895	0.09310	N	1	P	0.47677	0.899	B	0.41946	0.371	T	0.25779	-1.0122	10	0.72032	D	0.01	-0.0123	7.8843	0.29640	0.0:0.1756:0.6428:0.1816	.	848	Q9BZQ8	NIBAN_HUMAN	F	848	ENSP00000356481:S848F	ENSP00000356481:S848F	S	-	2	0	FAM129A	183030978	0.010000	0.17322	0.002000	0.10522	0.006000	0.05464	1.713000	0.37951	1.185000	0.42971	0.462000	0.41574	TCT		0.602	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			7	58	0	0	0	0.001984	0	7	58				
FAM129A	116496	broad.mit.edu	37	1	184764954	184764954	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:184764954G>A	ENST00000367511.3	-	14	2137	c.1944C>T	c.(1942-1944)ccC>ccT	p.P648P	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	648					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCCCATCTGGGGGTGGGCTTG	0.557																																							uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.(1942-1944)CCC>CCT		niban protein isoform 2							72.0	70.0	71.0					1																	184764954		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764954G>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1944C>T	1.37:g.184764954G>A						FAM129A_uc001grb.1_Intron	p.P648P	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2138	-			648					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.1944C>T	CCDS1364.1																																																																																				0.557	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			14	46	0	0	0	0.004007	0	14	46				
SWT1	54823	broad.mit.edu	37	1	185153929	185153929	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:185153929G>T	ENST00000367500.4	+	9	1460	c.1295G>T	c.(1294-1296)cGt>cTt	p.R432L	SWT1_ENST00000367501.3_Missense_Mutation_p.R432L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	432	PINc.							p.R432H(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GAGCTAGATCGTATGAAGGAA	0.343																																							uc001grg.3		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1294-1296)CGT>CTT		hypothetical protein LOC54823							106.0	105.0	106.0					1																	185153929		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185153929G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1295G>T	1.37:g.185153929G>T	ENSP00000356470:p.Arg432Leu					C1orf26_uc001grh.3_Missense_Mutation_p.R432L	p.R432L	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			9	1409	+			432			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1295G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182138	0.57800	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19250	2.16;2.16	5.34	4.43	0.53597	Nucleotide binding protein, PINc (1);	0.382701	0.28257	N	0.016002	T	0.30947	0.0781	M	0.71581	2.175	0.29657	N	0.843523	P	0.48640	0.913	P	0.53035	0.716	T	0.14896	-1.0456	10	0.20046	T	0.44	.	7.0018	0.24813	0.2419:0.0:0.7581:0.0	.	432	Q5T5J6	SWT1_HUMAN	L	432	ENSP00000356471:R432L;ENSP00000356470:R432L	ENSP00000356470:R432L	R	+	2	0	SWT1	183420552	0.994000	0.37717	0.998000	0.56505	0.998000	0.95712	2.245000	0.43133	1.241000	0.43820	0.557000	0.71058	CGT		0.343	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		8	56	1	0	5.4927e-09	0.004482	8.0151e-09	8	56				
SWT1	54823	broad.mit.edu	37	1	185191038	185191038	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:185191038G>T	ENST00000367500.4	+	15	2344	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C	SWT1_ENST00000367501.3_Missense_Mutation_p.G727C	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	727										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AAAGCAGGAAGGTACTTCATT	0.373																																							uc001grg.3		NA																	0					0						c.(2179-2181)GGT>TGT		hypothetical protein LOC54823							145.0	153.0	150.0					1																	185191038		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185191038G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2179G>T	1.37:g.185191038G>T	ENSP00000356470:p.Gly727Cys					C1orf26_uc001grh.3_Missense_Mutation_p.G727C	p.G727C	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			15	2293	+			727					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2179G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594626	0.28445	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.18502	2.21;2.21	5.43	2.54	0.30619	.	0.940116	0.08956	N	0.869422	T	0.15825	0.0381	N	0.22421	0.69	0.23661	N	0.997173	D	0.55800	0.973	P	0.46975	0.533	T	0.21211	-1.0252	10	0.62326	D	0.03	.	9.2662	0.37643	0.2306:0.0:0.7694:0.0	.	727	Q5T5J6	SWT1_HUMAN	C	727	ENSP00000356471:G727C;ENSP00000356470:G727C	ENSP00000356470:G727C	G	+	1	0	SWT1	183457661	0.616000	0.27035	0.599000	0.28851	0.076000	0.17211	0.527000	0.22987	0.675000	0.31264	-0.218000	0.12543	GGT		0.373	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		23	101	1	0	5.26018e-13	0.012319	8.69874e-13	23	101				
HMCN1	83872	broad.mit.edu	37	1	186059943	186059943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:186059943G>T	ENST00000271588.4	+	64	10010	c.9781G>T	c.(9781-9783)Gga>Tga	p.G3261*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G3261*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3261	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCCTTCTAGGAGAAAATGT	0.398																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(9781-9783)GGA>TGA		hemicentin 1 precursor							132.0	127.0	129.0					1																	186059943		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186059943G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9781G>T	1.37:g.186059943G>T	ENSP00000271588:p.Gly3261*						p.G3261*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			64	10010	+			3261			Ig-like C2-type 31.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.9781G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	53	20.112650	0.99927	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.98	5.98	0.97165	.	0.098005	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	3261	.	ENSP00000271588:G3261X	G	+	1	0	HMCN1	184326566	1.000000	0.71417	0.947000	0.38551	0.984000	0.73092	6.886000	0.75611	2.838000	0.97847	0.591000	0.81541	GGA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		12	39	1	0	2.27111e-07	0.001368	3.08624e-07	12	39				
TPR	7175	broad.mit.edu	37	1	186340118	186340118	+	Missense_Mutation	SNP	C	C	G	rs372715575	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:186340118C>G	ENST00000367478.4	-	3	610	c.314G>C	c.(313-315)cGc>cCc	p.R105P	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	105	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCAATATTGCGATCCTGAGC	0.313			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(313-315)CGC>CCC		nuclear pore complex-associated protein TPR							175.0	161.0	165.0					1																	186340118		1833	4093	5926	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186340118C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.314G>C	1.37:g.186340118C>G	ENSP00000356448:p.Arg105Pro					TPR_uc010pop.1_Missense_Mutation_p.R181P	p.R105P	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	3	611	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	105			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.314G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318324	0.60524	.	.	ENSG00000047410	ENST00000367478	T	0.26660	1.72	5.1	3.2	0.36748	.	0.398400	0.28706	N	0.014406	T	0.17619	0.0423	L	0.29908	0.895	0.39892	D	0.973788	B;B	0.27823	0.153;0.19	B;B	0.28849	0.095;0.011	T	0.06826	-1.0805	10	0.42905	T	0.14	.	7.7011	0.28623	0.0:0.7118:0.1366:0.1516	.	105;105	Q15624;P12270	.;TPR_HUMAN	P	105	ENSP00000356448:R105P	ENSP00000356448:R105P	R	-	2	0	TPR	184606741	0.943000	0.32029	0.880000	0.34516	0.961000	0.63080	1.817000	0.39002	0.624000	0.30286	0.655000	0.94253	CGC		0.313	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		8	49	0	0	0	0.004482	0	8	49				
TPR	7175	broad.mit.edu	37	1	186342569	186342569	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:186342569T>A	ENST00000367478.4	-	2	474	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	C1orf27_ENST00000367470.3_5'Flank|C1orf27_ENST00000419367.3_5'Flank|TPR_ENST00000474852.1_5'UTR|C1orf27_ENST00000287859.6_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	60	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGGGACAACCTCTTTTCTATT	0.348			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(178-180)AGG>TGG		nuclear pore complex-associated protein TPR							84.0	79.0	80.0					1																	186342569		1823	4087	5910	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186342569T>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.178A>T	1.37:g.186342569T>A	ENSP00000356448:p.Arg60Trp					C1orf27_uc001grw.2_5'Flank|C1orf27_uc010poq.1_5'Flank|C1orf27_uc010por.1_5'Flank|TPR_uc010pop.1_Missense_Mutation_p.R136W	p.R60W	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	2	475	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	60			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.178A>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003879	0.54254	.	.	ENSG00000047410	ENST00000367478;ENST00000367472;ENST00000451586	T	0.25749	1.78	5.34	2.86	0.33363	.	0.174320	0.48767	D	0.000170	T	0.40297	0.1111	L	0.54323	1.7	0.36664	D	0.878097	D;D	0.76494	0.998;0.999	D;D	0.68483	0.958;0.924	T	0.46541	-0.9184	10	0.87932	D	0	.	8.521	0.33275	0.0:0.0855:0.1817:0.7328	.	60;60	Q15624;P12270	.;TPR_HUMAN	W	60;136;136	ENSP00000356448:R60W	ENSP00000356442:R136W	R	-	1	2	TPR	184609192	0.998000	0.40836	0.930000	0.37139	0.208000	0.24298	0.748000	0.26305	0.873000	0.35799	0.454000	0.30748	AGG		0.348	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		4	30	0	0	0	0.000602	0	4	30				
RGS18	64407	broad.mit.edu	37	1	192150512	192150512	+	Missense_Mutation	SNP	G	G	T	rs112220830		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:192150512G>T	ENST00000367460.3	+	4	555	c.374G>T	c.(373-375)aGc>aTc	p.S125I		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	125	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCAAGAAAAGCAAGGGACCT	0.328																																							uc001gsg.2		NA																	0				ovary(3)	3						c.(373-375)AGC>ATC		regulator of G-protein signalling 18							47.0	50.0	49.0					1																	192150512		2199	4288	6487	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150512G>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.374G>T	1.37:g.192150512G>T	ENSP00000356430:p.Ser125Ile						p.S125I	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			4	550	+			125			RGS.		B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.374G>T	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	0.354	-0.943488	0.02322	.	.	ENSG00000150681	ENST00000367460	T	0.01963	4.53	5.51	1.21	0.21127	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.380225	0.34676	N	0.003780	T	0.00906	0.0030	N	0.02765	-0.5	0.30035	N	0.81312	B	0.09022	0.002	B	0.18263	0.021	T	0.44452	-0.9327	10	0.09843	T	0.71	.	5.2177	0.15352	0.1571:0.0:0.4131:0.4298	.	125	Q9NS28	RGS18_HUMAN	I	125	ENSP00000356430:S125I	ENSP00000356430:S125I	S	+	2	0	RGS18	190417135	0.632000	0.27172	0.937000	0.37676	0.669000	0.39330	0.053000	0.14184	0.262000	0.21774	0.460000	0.39030	AGC		0.328	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		17	21	1	0	1.5739e-10	0.004007	2.42797e-10	17	21				
CFHR3	10878	broad.mit.edu	37	1	196762605	196762605	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:196762605T>A	ENST00000367425.4	+	6	1047	c.955T>A	c.(955-957)Tgt>Agt	p.C319S	CFHR3_ENST00000391985.3_Missense_Mutation_p.C258S	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	319	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TCAAGCAGTGTGTCGGGAAGG	0.373																																							uc001gtl.2		NA																	0					0						c.(955-957)TGT>AGT		complement factor H-related 3 precursor							122.0	144.0	137.0					1																	196762605		1916	4136	6052	SO:0001583	missense	10878					extracellular space		g.chr1:196762605T>A	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.955T>A	1.37:g.196762605T>A	ENSP00000356395:p.Cys319Ser					CFHR3_uc010poy.1_Missense_Mutation_p.C258S|CFHR1_uc001gtm.2_Intron	p.C319S	NM_021023	NP_066303	Q02985	FHR3_HUMAN			6	1042	+			319			Sushi 5.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.955T>A	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490114	0.64074	.	.	ENSG00000116785	ENST00000367425;ENST00000391985	D;D	0.99458	-5.93;-5.93	3.24	3.24	0.37175	Complement control module (1);	.	.	.	.	D	0.99357	0.9774	M	0.88181	2.935	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.59761	0.863;0.839	D	0.97529	1.0078	9	0.87932	D	0	.	8.2446	0.31680	0.0:0.0:0.0:1.0	.	258;319	B4DPR0;Q02985	.;FHR3_HUMAN	S	319;258	ENSP00000356395:C319S;ENSP00000375845:C258S	ENSP00000356395:C319S	C	+	1	0	CFHR3	195029228	0.861000	0.29849	0.005000	0.12908	0.617000	0.37484	3.100000	0.50275	1.235000	0.43724	0.322000	0.21391	TGT		0.373	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		14	66	0	0	0	0.003163	0	14	66				
CAMSAP2	23271	broad.mit.edu	37	1	200821748	200821748	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:200821748C>T	ENST00000236925.4	+	13	3627	c.3578C>T	c.(3577-3579)aCt>aTt	p.T1193I	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T1166I|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T1182I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1193					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAAAAGGAAACTCAGCTCCGG	0.398																																							uc001gvl.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3577-3579)ACT>ATT		calmodulin regulated spectrin-associated protein							107.0	96.0	100.0					1																	200821748		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200821748C>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3578C>T	1.37:g.200821748C>T	ENSP00000236925:p.Thr1193Ile					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.T1182I|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.T1166I	p.T1193I	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			13	3848	+			1193					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3578C>T		.	.	.	.	.	.	.	.	.	.	C	9.624	1.134741	0.21123	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14391	2.52;2.51;2.52	5.53	3.59	0.41128	.	0.236917	0.49916	D	0.000134	T	0.06872	0.0175	N	0.08118	0	0.36917	D	0.891174	B;B;P	0.36048	0.082;0.399;0.534	B;B;B	0.34652	0.059;0.091;0.187	T	0.41627	-0.9498	10	0.34782	T	0.22	-17.4789	9.7577	0.40513	0.0:0.6944:0.2341:0.0715	.	1166;1193;1182	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	I	1182;1166;1193	ENSP00000351684:T1182I;ENSP00000416800:T1166I;ENSP00000236925:T1193I	ENSP00000236925:T1193I	T	+	2	0	CAMSAP1L1	199088371	0.633000	0.27181	0.991000	0.47740	0.138000	0.21146	0.891000	0.28309	0.629000	0.30376	0.650000	0.86243	ACT		0.398	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		7	38	0	0	0	0.00308	0	7	38				
KIF21B	23046	broad.mit.edu	37	1	200971298	200971298	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:200971298C>A	ENST00000422435.2	-	9	1709	c.1393G>T	c.(1393-1395)Gcc>Tcc	p.A465S	KIF21B_ENST00000332129.2_Missense_Mutation_p.A465S|KIF21B_ENST00000360529.5_Missense_Mutation_p.A465S|KIF21B_ENST00000461742.2_Missense_Mutation_p.A465S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	465					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCGGCCTTGGCTAGCAGCAGG	0.642																																							uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(1393-1395)GCC>TCC		kinesin family member 21B							104.0	85.0	91.0					1																	200971298		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200971298C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1393G>T	1.37:g.200971298C>A	ENSP00000411831:p.Ala465Ser					KIF21B_uc001gvr.1_Missense_Mutation_p.A465S|KIF21B_uc009wzl.1_Missense_Mutation_p.A465S|KIF21B_uc010ppn.1_Missense_Mutation_p.A465S|KIF21B_uc001gvt.1_3'UTR	p.A465S	NM_017596	NP_060066	O75037	KI21B_HUMAN			9	1710	-			465			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1393G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	c	13.93	2.384274	0.42308	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71579	-0.23;-0.54;-0.58;-0.27	5.71	4.74	0.60224	.	0.187681	0.46758	D	0.000276	T	0.60248	0.2254	L	0.42245	1.32	0.32900	D	0.513049	B;B;B;B	0.18310	0.016;0.016;0.004;0.027	B;B;B;B	0.16289	0.004;0.004;0.004;0.015	T	0.60073	-0.7334	10	0.13470	T	0.59	.	13.873	0.63631	0.1522:0.8478:0.0:0.0	.	465;465;465;465	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	S	465	ENSP00000328494:A465S;ENSP00000353724:A465S;ENSP00000433808:A465S;ENSP00000411831:A465S	ENSP00000328494:A465S	A	-	1	0	KIF21B	199237921	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.865000	0.48412	2.703000	0.92315	0.558000	0.71614	GCC		0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		21	26	1	0	1.01871e-10	0.008871	1.57581e-10	21	26				
CACNA1S	779	broad.mit.edu	37	1	201046249	201046249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:201046249C>T	ENST00000362061.3	-	12	1852	c.1626G>A	c.(1624-1626)tgG>tgA	p.W542*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.W542*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	542					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCGACGTCCAATATCTGA	0.597																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1624-1626)TGG>TGA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						73.0	68.0	70.0					1																	201046249		2203	4300	6503	SO:0001587	stop_gained	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046249C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1626G>A	1.37:g.201046249C>T	ENSP00000355192:p.Trp542*						p.W542*	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			12	1853	-			542			II.|Helical; Name=S4 of repeat II; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Nonsense_Mutation	SNP	ENST00000362061.3	37	c.1626G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	37	6.616906	0.97709	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4435	0.87572	0.0:1.0:0.0:0.0	.	.	.	.	X	542	.	ENSP00000355192:W542X	W	-	3	0	CACNA1S	199312872	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.694000	0.84235	2.189000	0.69895	0.549000	0.68633	TGG		0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		11	19	0	0	0	0.010729	0	11	19				
LGR6	59352	broad.mit.edu	37	1	202270015	202270015	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:202270015A>T	ENST00000367278.3	+	8	913	c.824A>T	c.(823-825)aAg>aTg	p.K275M	LGR6_ENST00000255432.7_Missense_Mutation_p.K223M|LGR6_ENST00000439764.2_Missense_Mutation_p.K136M|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	275					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCCCAGAAAAGGCCTTCATG	0.502																																							uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(823-825)AAG>ATG		leucine-rich repeat-containing G protein-coupled							138.0	127.0	131.0					1																	202270015		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202270015A>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.824A>T	1.37:g.202270015A>T	ENSP00000356247:p.Lys275Met					LGR6_uc001gxv.2_Missense_Mutation_p.K223M|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.K136M|LGR6_uc009xac.1_RNA	p.K275M	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			8	824	+			275			LRR 8.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.824A>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842913	0.71488	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.58210	0.35;0.35;0.35	5.97	3.67	0.42095	.	0.146379	0.64402	D	0.000007	T	0.56485	0.1988	L	0.36672	1.1	0.33869	D	0.63478	D;P;D	0.71674	0.998;0.878;0.987	D;P;P	0.64144	0.922;0.749;0.75	T	0.66077	-0.6013	10	0.66056	D	0.02	.	7.7759	0.29037	0.8384:0.0:0.1616:0.0	.	136;223;275	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	M	275;223;136	ENSP00000356247:K275M;ENSP00000255432:K223M;ENSP00000387869:K136M	ENSP00000255432:K223M	K	+	2	0	LGR6	200536638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.728000	0.47319	0.512000	0.28257	0.533000	0.62120	AAG		0.502	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		18	77	0	0	0	0.006122	0	18	77				
PLEKHA6	22874	broad.mit.edu	37	1	204228631	204228631	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:204228631G>A	ENST00000272203.3	-	8	1078	c.762C>T	c.(760-762)ccC>ccT	p.P254P	PLEKHA6_ENST00000414478.1_Silent_p.P274P|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	254	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGGGCCCTCGGGGTAAGGGC	0.662																																							uc001hau.2		NA																	0				ovary(3)|pancreas(1)	4						c.(760-762)CCC>CCT		phosphoinositol 3-phosphate-binding protein-3							35.0	37.0	37.0					1																	204228631		2203	4300	6503	SO:0001819	synonymous_variant	22874							g.chr1:204228631G>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.762C>T	1.37:g.204228631G>A						PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.P254P	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1079	-	all_cancers(21;0.0222)|Breast(84;0.179)		254			Pro-rich.		A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.762C>T	CCDS1444.1																																																																																				0.662	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		7	38	0	0	0	0.001984	0	7	38				
RBBP5	5929	broad.mit.edu	37	1	205064008	205064008	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:205064008G>A	ENST00000264515.6	-	13	1722	c.1581C>T	c.(1579-1581)ccC>ccT	p.P527P	RBBP5_ENST00000367164.1_Intron	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	527					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACCTGTCAAGGGCTGGCTGA	0.483																																							uc001hbu.1		NA																	0				lung(1)	1						c.(1579-1581)CCC>CCT		retinoblastoma binding protein 5							133.0	124.0	127.0					1																	205064008		2203	4300	6503	SO:0001819	synonymous_variant	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205064008G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1581C>T	1.37:g.205064008G>A						RBBP5_uc010prd.1_Silent_p.P562P|RBBP5_uc001hbv.1_Intron|RBBP5_uc010pre.1_Silent_p.P394P	p.P527P	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		13	1711	-	Breast(84;0.0505)		527					A8K272|Q7Z6D8|Q8NDZ7	Silent	SNP	ENST00000264515.6	37	c.1581C>T	CCDS30983.1																																																																																				0.483	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		23	103	0	0	0	0.003954	0	23	103				
FAM71A	149647	broad.mit.edu	37	1	212798530	212798530	+	Missense_Mutation	SNP	C	C	A	rs144071564		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:212798530C>A	ENST00000294829.3	+	1	742	c.311C>A	c.(310-312)gCc>gAc	p.A104D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	104						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CATGGCCAGGCCACCAAGAGA	0.547																																							uc001hjk.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(310-312)GCC>GAC		hypothetical protein LOC149647							61.0	62.0	62.0					1																	212798530		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798530C>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.311C>A	1.37:g.212798530C>A	ENSP00000294829:p.Ala104Asp					uc010pth.1_Intron	p.A104D	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	715	+			104					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.311C>A	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258554	0.23051	.	.	ENSG00000162771	ENST00000294829	T	0.03889	3.77	4.18	-1.38	0.09027	.	2.244240	0.02410	U	0.081600	T	0.03827	0.0108	N	0.25144	0.715	0.09310	N	1	B	0.18863	0.031	B	0.17098	0.017	T	0.40887	-0.9539	10	0.30854	T	0.27	-0.5296	3.4889	0.07630	0.1851:0.3424:0.0:0.4725	.	104	Q8IYT1	FA71A_HUMAN	D	104	ENSP00000294829:A104D	ENSP00000294829:A104D	A	+	2	0	FAM71A	210865153	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.256000	0.18351	-0.130000	0.11599	0.557000	0.71058	GCC		0.547	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		24	49	1	0	6.21321e-17	0.00278	1.10602e-16	24	49				
CENPF	1063	broad.mit.edu	37	1	214803990	214803990	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:214803990G>C	ENST00000366955.3	+	9	1476	c.1308G>C	c.(1306-1308)caG>caC	p.Q436H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACGTCCTGCAGGCTGAACTGG	0.478																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(1306-1308)CAG>CAC		centromere protein F							145.0	133.0	137.0					1																	214803990		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214803990G>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1308G>C	1.37:g.214803990G>C	ENSP00000355922:p.Gln436His						p.Q436H	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	9	1482	+			436			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.1308G>C	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316597	0.60524	.	.	ENSG00000117724	ENST00000366955	T	0.79749	-1.3	5.18	4.25	0.50352	.	0.000000	0.36134	N	0.002771	D	0.87063	0.6084	.	.	.	0.40427	D	0.979905	D	0.89917	1.0	D	0.70487	0.969	D	0.87668	0.2539	9	0.66056	D	0.02	.	9.4897	0.38951	0.2107:0.0:0.7893:0.0	.	436	P49454	CENPF_HUMAN	H	436	ENSP00000355922:Q436H	ENSP00000355922:Q436H	Q	+	3	2	CENPF	212870613	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	3.451000	0.52964	2.572000	0.86782	0.655000	0.94253	CAG		0.478	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		17	68	0	0	0	0.00499	0	17	68				
USH2A	7399	broad.mit.edu	37	1	215847454	215847454	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:215847454T>A	ENST00000307340.3	-	63	14185	c.13799A>T	c.(13798-13800)aAg>aTg	p.K4600M	USH2A_ENST00000366943.2_Missense_Mutation_p.K4600M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4600	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGAAATGGCTTCAGCTGGTT	0.398										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13798-13800)AAG>ATG		usherin isoform B							129.0	127.0	128.0					1																	215847454		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847454T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13799A>T	1.37:g.215847454T>A	ENSP00000305941:p.Lys4600Met	HNSCC(13;0.011)					p.K4600M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	14186	-			4600			Fibronectin type-III 31.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13799A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020225	0.54576	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59502	0.26;0.26	4.99	3.84	0.44239	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.166533	0.27861	U	0.017559	T	0.58032	0.2094	M	0.78285	2.405	0.32830	D	0.503942	B	0.31125	0.309	B	0.31245	0.126	T	0.67719	-0.5598	10	0.56958	D	0.05	.	11.3138	0.49379	0.1366:0.0:0.0:0.8634	.	4600	O75445	USH2A_HUMAN	M	4600	ENSP00000305941:K4600M;ENSP00000355910:K4600M	ENSP00000305941:K4600M	K	-	2	0	USH2A	213914077	1.000000	0.71417	0.966000	0.40874	0.742000	0.42306	4.503000	0.60407	0.831000	0.34780	0.460000	0.39030	AAG		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	48	0	0	0	0.008871	0	19	48				
USH2A	7399	broad.mit.edu	37	1	215847984	215847984	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:215847984G>T	ENST00000307340.3	-	63	13655	c.13269C>A	c.(13267-13269)gcC>gcA	p.A4423A	USH2A_ENST00000366943.2_Silent_p.A4423A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4423	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTCGTGCAGGCTACAAGGG	0.507										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13267-13269)GCC>GCA		usherin isoform B							68.0	68.0	68.0					1																	215847984		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847984G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13269C>A	1.37:g.215847984G>T		HNSCC(13;0.011)					p.A4423A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13656	-			4423			Extracellular (Potential).|Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.13269C>A	CCDS31025.1																																																																																				0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	36	1	0	5.50884e-06	0.001368	6.94735e-06	12	36				
USH2A	7399	broad.mit.edu	37	1	216052381	216052381	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:216052381C>A	ENST00000307340.3	-	42	8669	c.8283G>T	c.(8281-8283)atG>atT	p.M2761I	USH2A_ENST00000366943.2_Missense_Mutation_p.M2761I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2761	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGGGTCAGGCATGTGAATCT	0.403										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8281-8283)ATG>ATT		usherin isoform B							156.0	156.0	156.0					1																	216052381		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052381C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8283G>T	1.37:g.216052381C>A	ENSP00000305941:p.Met2761Ile	HNSCC(13;0.011)					p.M2761I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8670	-			2761			Fibronectin type-III 14.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8283G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099437	0.76983	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55760	0.5;0.5	6.16	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000041	T	0.60222	0.2252	M	0.82323	2.585	0.38654	D	0.951912	P	0.39535	0.677	B	0.40329	0.326	T	0.65150	-0.6238	10	0.30078	T	0.28	.	16.8855	0.86075	0.0:0.8449:0.1551:0.0	.	2761	O75445	USH2A_HUMAN	I	2761	ENSP00000305941:M2761I;ENSP00000355910:M2761I	ENSP00000305941:M2761I	M	-	3	0	USH2A	214119004	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	3.630000	0.54273	1.514000	0.48869	0.650000	0.86243	ATG		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	90	1	0	1.3612e-06	0.003163	1.79244e-06	13	90				
USH2A	7399	broad.mit.edu	37	1	216462717	216462717	+	Missense_Mutation	SNP	G	G	C	rs534534437		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:216462717G>C	ENST00000307340.3	-	11	2262	c.1876C>G	c.(1876-1878)Cga>Gga	p.R626G	USH2A_ENST00000366943.2_Missense_Mutation_p.R626G|USH2A_ENST00000366942.3_Missense_Mutation_p.R626G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	626	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAACTTGTCGGAAAAAGTAA	0.413										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	GRCh37	CM001371	USH2A	M		c.(1876-1878)CGA>GGA		usherin isoform B							168.0	150.0	156.0					1																	216462717		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216462717G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1876C>G	1.37:g.216462717G>C	ENSP00000305941:p.Arg626Gly	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.R626G	p.R626G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	11	2263	-			626			Laminin EGF-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1876C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664511	0.67700	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.60299	0.2;0.2;0.2	5.43	5.43	0.79202	EGF-like, laminin (4);	0.000000	0.36066	N	0.002811	T	0.67767	0.2928	L	0.37897	1.145	0.58432	D	0.999995	P;D	0.89917	0.553;1.0	P;D	0.91635	0.468;0.999	T	0.69228	-0.5200	10	0.66056	D	0.02	.	15.3415	0.74300	0.0:0.0:0.8519:0.1481	.	626;626	O75445-2;O75445	.;USH2A_HUMAN	G	626	ENSP00000305941:R626G;ENSP00000355910:R626G;ENSP00000355909:R626G	ENSP00000305941:R626G	R	-	1	2	USH2A	214529340	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	3.482000	0.53186	2.712000	0.92718	0.557000	0.71058	CGA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	43	0	0	0	0.006214	0	7	43				
USH2A	7399	broad.mit.edu	37	1	216495284	216495284	+	Missense_Mutation	SNP	T	T	C	rs201332729		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:216495284T>C	ENST00000307340.3	-	9	1971	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A	USH2A_ENST00000366943.2_Missense_Mutation_p.T529A|USH2A_ENST00000366942.3_Missense_Mutation_p.T529A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	529	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGCTTGTTGTGTCGCAGTTA	0.423										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1585-1587)ACA>GCA		usherin isoform B							144.0	131.0	136.0					1																	216495284		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216495284T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1585A>G	1.37:g.216495284T>C	ENSP00000305941:p.Thr529Ala	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.T529A	p.T529A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	9	1972	-			529			Laminin EGF-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1585A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704950	0.30232	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.60920	0.15;0.15;0.15	5.65	5.65	0.86999	EGF-like, laminin (3);	0.893918	0.09136	U	0.843707	T	0.47507	0.1449	L	0.28776	0.89	0.44852	D	0.99786	B;B	0.28128	0.026;0.201	B;B	0.35182	0.076;0.197	T	0.16808	-1.0390	10	0.05721	T	0.95	.	11.8151	0.52204	0.0:0.0:0.1463:0.8537	.	529;529	O75445-2;O75445	.;USH2A_HUMAN	A	529	ENSP00000305941:T529A;ENSP00000355910:T529A;ENSP00000355909:T529A	ENSP00000305941:T529A	T	-	1	0	USH2A	214561907	1.000000	0.71417	0.804000	0.32291	0.095000	0.18619	2.480000	0.45206	2.137000	0.66172	0.455000	0.32223	ACA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	76	0	0	0	0.008291	0	8	76				
USH2A	7399	broad.mit.edu	37	1	216498711	216498711	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:216498711G>T	ENST00000307340.3	-	6	1465	c.1079C>A	c.(1078-1080)aCa>aAa	p.T360K	USH2A_ENST00000366943.2_Missense_Mutation_p.T360K|USH2A_ENST00000366942.3_Missense_Mutation_p.T360K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	360	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTAATGTTTGTAAACACATT	0.368										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1078-1080)ACA>AAA		usherin isoform B							118.0	106.0	110.0					1																	216498711		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498711G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1079C>A	1.37:g.216498711G>T	ENSP00000305941:p.Thr360Lys	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.T360K	p.T360K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1466	-			360			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1079C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	0.438	-0.899970	0.02472	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.18174	2.7;2.69;2.23	5.36	2.2	0.27929	Laminin, N-terminal (3);	0.327391	0.21515	N	0.073317	T	0.08846	0.0219	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.012;0.002	B;B	0.16289	0.015;0.005	T	0.26430	-1.0103	10	0.15952	T	0.53	.	2.3984	0.04395	0.2297:0.1252:0.5009:0.1441	.	360;360	O75445-2;O75445	.;USH2A_HUMAN	K	360	ENSP00000305941:T360K;ENSP00000355910:T360K;ENSP00000355909:T360K	ENSP00000305941:T360K	T	-	2	0	USH2A	214565334	0.005000	0.15991	0.125000	0.21846	0.010000	0.07245	1.428000	0.34892	1.263000	0.44181	0.650000	0.86243	ACA		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	56	1	0	0.000157383	0.00308	0.000182879	8	56				
TP53BP2	7159	broad.mit.edu	37	1	223984286	223984286	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:223984286C>G	ENST00000343537.7	-	13	2246	c.1955G>C	c.(1954-1956)gGt>gCt	p.G652A	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.G523A|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	646					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TACAGGCTTACCATATACTAA	0.403																																							uc010pvb.1		NA																	0				ovary(2)|lung(1)	3						c.(1954-1956)GGT>GCT		tumor protein p53 binding protein, 2 isoform 1							52.0	59.0	57.0					1																	223984286		2164	4161	6325	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223984286C>G	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1955G>C	1.37:g.223984286C>G	ENSP00000341957:p.Gly652Ala					TP53BP2_uc001hod.2_Missense_Mutation_p.G523A|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.G291A	p.G652A	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2247	-			646					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1955G>C	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862223	0.91511	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.70282	-0.47;-0.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.85499	0.1190	10	0.87932	D	0	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	652;646	B4DG66;Q13625	.;ASPP2_HUMAN	A	523;652	ENSP00000375750:G523A;ENSP00000341957:G652A	ENSP00000341957:G652A	G	-	2	0	TP53BP2	222050909	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.456000	0.80751	2.818000	0.97014	0.655000	0.94253	GGT		0.403	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		8	82	0	0	0	0.004482	0	8	82				
LEFTY1	10637	broad.mit.edu	37	1	226075184	226075184	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:226075184G>C	ENST00000272134.5	-	3	731	c.652C>G	c.(652-654)Ctg>Gtg	p.L218V	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.A326G	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	218					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AAGCGGACCAGCTTGTGGGCG	0.701																																							uc001hpo.2		NA																	0					0						c.(652-654)CTG>GTG		left-right determination, factor B							17.0	21.0	20.0					1																	226075184		2192	4263	6455	SO:0001583	missense	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075184G>C	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.652C>G	1.37:g.226075184G>C	ENSP00000272134:p.Leu218Val					LEFTY1_uc010pvj.1_Missense_Mutation_p.A326G	p.L218V	NM_020997	NP_066277	O75610	LFTY1_HUMAN			3	722	-	Breast(184;0.197)		218					B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	c.652C>G	CCDS1548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.54|10.54	1.379383|1.379383	0.24944|0.24944	.|.	.|.	ENSG00000255835|ENSG00000243709	ENST00000432920|ENST00000272134	D|T	0.81499|0.69306	-1.5|-0.39	3.9|3.9	1.75|1.75	0.24633|0.24633	.|.	.|0.497507	.|0.22191	.|N	.|0.063367	T|T	0.57286|0.57286	0.2043|0.2043	L|L	0.59436|0.59436	1.845|1.845	0.23677|0.23677	N|N	0.997134|0.997134	B|P	0.22276|0.40282	0.067|0.711	B|B	0.21360|0.43103	0.034|0.408	T|T	0.42732|0.42732	-0.9434|-0.9434	9|10	0.87932|0.13470	D|T	0|0.59	-4.3215|-4.3215	5.1616|5.1616	0.15064|0.15064	0.208:0.2876:0.5044:0.0|0.208:0.2876:0.5044:0.0	.|.	326|218	E7EUD8|O75610	.|LFTY1_HUMAN	G|V	326|218	ENSP00000414068:A326G|ENSP00000272134:L218V	ENSP00000414068:A326G|ENSP00000272134:L218V	A|L	-|-	2|1	0|2	RP4-559A3.7|LEFTY1	224141807|224141807	0.956000|0.956000	0.32656|0.32656	0.826000|0.826000	0.32828|0.32828	0.094000|0.094000	0.18550|0.18550	1.020000|1.020000	0.30027|0.30027	0.730000|0.730000	0.32425|0.32425	0.313000|0.313000	0.20887|0.20887	GCT|CTG		0.701	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		4	43	0	0	0	0.000602	0	4	43				
C1orf95	375057	broad.mit.edu	37	1	226784531	226784531	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:226784531G>T	ENST00000366788.3	+	2	336	c.231G>T	c.(229-231)ctG>ctT	p.L77L	C1orf95_ENST00000366789.4_Silent_p.L77L	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	77						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TCACTGTGCTGTGCGGGGCCC	0.612																																							uc010pvn.1		NA																	0				ovary(1)	1						c.(229-231)CTG>CTT		hypothetical protein LOC375057							106.0	100.0	102.0					1																	226784531		2203	4300	6503	SO:0001819	synonymous_variant	375057					integral to membrane		g.chr1:226784531G>T	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.231G>T	1.37:g.226784531G>T							p.L77L	NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	2	336	+	Breast(184;0.133)	Prostate(94;0.0885)	77					A6NGL2	Silent	SNP	ENST00000366788.3	37	c.231G>T	CCDS31044.1																																																																																				0.612	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		17	87	1	0	1.56452e-12	0.007413	2.56232e-12	17	87				
CDC42BPA	8476	broad.mit.edu	37	1	227348267	227348267	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:227348267G>C	ENST00000366769.3	-	6	1961	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L224V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L224V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L224V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L224V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L224V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L224V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATCAGCTTCAGACAAGAACCA	0.299																																							uc001hqr.2		NA																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(670-672)CTG>GTG		CDC42-binding protein kinase alpha isoform B							139.0	147.0	145.0					1																	227348267		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227348267G>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.670C>G	1.37:g.227348267G>C	ENSP00000355731:p.Leu224Val					CDC42BPA_uc001hqs.2_Missense_Mutation_p.L224V|CDC42BPA_uc009xes.2_Missense_Mutation_p.L224V|CDC42BPA_uc010pvs.1_Missense_Mutation_p.L224V	p.L224V	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			6	1613	-		all_cancers(173;0.156)|Prostate(94;0.0792)	224			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.670C>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831201	0.71258	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.18	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	N	0.12569	0.235	0.58432	D	0.999995	D;D;D;D	0.89917	0.998;1.0;0.997;1.0	D;D;D;D	0.91635	0.983;0.996;0.977;0.999	T	0.44390	-0.9331	10	0.62326	D	0.03	.	9.9819	0.41819	0.1768:0.0:0.8232:0.0	.	224;224;224;224	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	V	224	ENSP00000355731:L224V;ENSP00000355729:L224V;ENSP00000335341:L224V;ENSP00000355728:L224V;ENSP00000355726:L224V;ENSP00000443275:L224V;ENSP00000355727:L224V	ENSP00000335341:L224V	L	-	1	2	CDC42BPA	225414890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.269000	0.58890	2.394000	0.81467	0.585000	0.79938	CTG		0.299	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		11	73	0	0	0	0.010729	0	11	73				
PRSS38	339501	broad.mit.edu	37	1	228003799	228003799	+	Silent	SNP	C	C	A	rs138900240		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:228003799C>A	ENST00000366757.3	+	2	181	c.157C>A	c.(157-159)Cgg>Agg	p.R53R		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	53						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCTGTGGTCGGCCCAGCAT	0.701																																							uc001hrh.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(157-159)CGG>AGG		marapsin 2 precursor							48.0	54.0	52.0					1																	228003799		2203	4300	6503	SO:0001819	synonymous_variant	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003799C>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.157C>A	1.37:g.228003799C>A							p.R53R	NM_183062	NP_898885	A1L453	PRS38_HUMAN			2	157	+			53					Q7RTY6	Silent	SNP	ENST00000366757.3	37	c.157C>A	CCDS1563.1																																																																																				0.701	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		15	53	1	0	1.99824e-07	0.00499	2.73291e-07	15	53				
OBSCN	84033	broad.mit.edu	37	1	228505766	228505766	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:228505766G>C	ENST00000422127.1	+	53	14067	c.14023G>C	c.(14023-14025)Ggt>Cgt	p.G4675R	OBSCN_ENST00000570156.2_Missense_Mutation_p.G5632R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2309R|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4675R|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1794R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4675	Ig-like 47.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCTCCCAGGGTCGGCAACA	0.642																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(14023-14025)GGT>CGT		obscurin, cytoskeletal calmodulin and							85.0	96.0	92.0					1																	228505766		2133	4235	6368	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505766G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14023G>C	1.37:g.228505766G>C	ENSP00000409493:p.Gly4675Arg					OBSCN_uc001hsn.2_Missense_Mutation_p.G4675R	p.G4675R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			53	14067	+		Prostate(94;0.0405)	4675			Ig-like 47.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14023G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	19.15	3.772376	0.69992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	4.35	3.44	0.39384	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.434279	0.23008	N	0.052996	D	0.88819	0.6540	M	0.81682	2.555	0.41925	D	0.99053	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	D	0.89414	0.3705	10	0.66056	D	0.02	.	11.9705	0.53062	0.0863:0.0:0.9137:0.0	.	4675;4675	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	4675;4675;2309;1794	ENSP00000284548:G4675R;ENSP00000409493:G4675R;ENSP00000355668:G2309R;ENSP00000355670:G1794R	ENSP00000284548:G4675R	G	+	1	0	OBSCN	226572389	0.998000	0.40836	0.016000	0.15963	0.690000	0.40134	4.188000	0.58351	1.069000	0.40788	0.298000	0.19748	GGT		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	72	0	0	0	0.010504	0	19	72				
SPRTN	83932	broad.mit.edu	37	1	231488891	231488891	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:231488891C>T	ENST00000295050.7	+	5	1590	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	418					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										CTGTTTTTGACAATTTTTTTA	0.398																																						Esophageal Squamous(43;65 937 18756 45127 47168)	uc001hur.2		NA																	0					0						c.(1252-1254)GAC>GAT		hypothetical protein LOC83932 isoform a							58.0	59.0	58.0					1																	231488891		2203	4299	6502	SO:0001819	synonymous_variant	83932				DNA repair	nuclear speck	DNA binding|metal ion binding	g.chr1:231488891C>T	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1254C>T	1.37:g.231488891C>T						C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	p.D418D	NM_032018	NP_114407	Q9H040	CA124_HUMAN			5	1702	+	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	418					B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Silent	SNP	ENST00000295050.7	37	c.1254C>T	CCDS1594.1																																																																																				0.398	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		10	26	0	0	0	0.008291	0	10	26				
LYST	1130	broad.mit.edu	37	1	235972423	235972423	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:235972423G>A	ENST00000389794.3	-	5	1869	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	LYST_ENST00000389793.2_Silent_p.S565S|LYST_ENST00000536965.1_Silent_p.S565S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	565					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTGCTCAAGGAAGCCTGCT	0.458																																							uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1693-1695)TCC>TCT		lysosomal trafficking regulator							111.0	106.0	108.0					1																	235972423		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972423G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1695C>T	1.37:g.235972423G>A						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.S565S	p.S565S	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1870	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	565					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.1695C>T	CCDS31062.1																																																																																				0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			18	76	0	0	0	0.008871	0	18	76				
RYR2	6262	broad.mit.edu	37	1	237666694	237666694	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:237666694G>A	ENST00000366574.2	+	22	2819	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	RYR2_ENST00000360064.6_Silent_p.V832V|RYR2_ENST00000542537.1_Silent_p.V818V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	834					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTTGAAAGTGGAACACAGCC	0.507																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2500-2502)GTG>GTA		cardiac muscle ryanodine receptor							111.0	113.0	112.0					1																	237666694		1983	4147	6130	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666694G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2502G>A	1.37:g.237666694G>A							p.V834V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2622	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	834			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2502G>A	CCDS55691.1																																																																																				0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	49	0	0	0	0.001368	0	13	49				
RYR2	6262	broad.mit.edu	37	1	237777402	237777402	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:237777402C>A	ENST00000366574.2	+	37	5291	c.4974C>A	c.(4972-4974)ctC>ctA	p.L1658L	RYR2_ENST00000360064.6_Silent_p.L1656L|RYR2_ENST00000542537.1_Silent_p.L1642L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1658	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCACACTCTCCGGCTCTACT	0.498																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4972-4974)CTC>CTA		cardiac muscle ryanodine receptor							65.0	65.0	65.0					1																	237777402		1994	4168	6162	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777402C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4974C>A	1.37:g.237777402C>A							p.L1658L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5094	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1658			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4974C>A	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	33	1	0	8.12818e-05	0.001984	9.60912e-05	7	33				
RYR2	6262	broad.mit.edu	37	1	237802473	237802473	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:237802473T>A	ENST00000366574.2	+	46	7404	c.7087T>A	c.(7087-7089)Tca>Aca	p.S2363T	RYR2_ENST00000360064.6_Missense_Mutation_p.S2361T|RYR2_ENST00000542537.1_Missense_Mutation_p.S2347T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2363	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATGGTCCCTCACCAAATAG	0.443																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7087-7089)TCA>ACA		cardiac muscle ryanodine receptor							79.0	79.0	79.0					1																	237802473		1910	4118	6028	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802473T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7087T>A	1.37:g.237802473T>A	ENSP00000355533:p.Ser2363Thr						p.S2363T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7207	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2363			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7087T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277641	0.40294	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97924	-4.61;-4.61;-4.61	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000040	D	0.93844	0.8031	N	0.21373	0.66	0.80722	D	1	B	0.24721	0.11	B	0.14578	0.011	D	0.91961	0.5579	10	0.20046	T	0.44	.	15.3314	0.74215	0.0:0.0:0.0:1.0	.	2363	Q92736	RYR2_HUMAN	T	2363;2361;2347	ENSP00000355533:S2363T;ENSP00000353174:S2361T;ENSP00000443798:S2347T	ENSP00000353174:S2361T	S	+	1	0	RYR2	235869096	1.000000	0.71417	0.996000	0.52242	0.388000	0.30384	4.793000	0.62474	2.020000	0.59435	0.459000	0.35465	TCA		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	21	0	0	0	0.009096	0	3	21				
RYR2	6262	broad.mit.edu	37	1	237837423	237837423	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:237837423C>A	ENST00000366574.2	+	59	8935	c.8618C>A	c.(8617-8619)cCc>cAc	p.P2873H	RYR2_ENST00000360064.6_Missense_Mutation_p.P2871H|RYR2_ENST00000542537.1_Missense_Mutation_p.P2857H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2873	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGCTGGTGCCCTATGATACA	0.413																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8617-8619)CCC>CAC		cardiac muscle ryanodine receptor							112.0	109.0	110.0					1																	237837423		1957	4153	6110	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237837423C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8618C>A	1.37:g.237837423C>A	ENSP00000355533:p.Pro2873His					RYR2_uc010pxz.1_5'Flank	p.P2873H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		59	8738	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2873			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8618C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283632	0.80803	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92647	-3.08;-3.08;-3.08	5.32	5.32	0.75619	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000008	D	0.96932	0.8998	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97607	1.0127	10	0.87932	D	0	.	19.0098	0.92868	0.0:1.0:0.0:0.0	.	2873	Q92736	RYR2_HUMAN	H	2873;2871;2857	ENSP00000355533:P2873H;ENSP00000353174:P2871H;ENSP00000443798:P2857H	ENSP00000353174:P2871H	P	+	2	0	RYR2	235904046	1.000000	0.71417	0.965000	0.40720	0.638000	0.38207	7.726000	0.84824	2.483000	0.83821	0.557000	0.71058	CCC		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	74	1	0	2.94398e-08	0.007413	4.18809e-08	18	74				
RYR2	6262	broad.mit.edu	37	1	237870417	237870417	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:237870417G>T	ENST00000366574.2	+	68	10066	c.9749G>T	c.(9748-9750)tGg>tTg	p.W3250L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.W3248L|RYR2_ENST00000542537.1_Missense_Mutation_p.W3234L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3250					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTCGTTGGTGGGAGCATGGA	0.498																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9748-9750)TGG>TTG		cardiac muscle ryanodine receptor							84.0	83.0	84.0					1																	237870417		2061	4207	6268	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870417G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9749G>T	1.37:g.237870417G>T	ENSP00000355533:p.Trp3250Leu					RYR2_uc010pxz.1_Missense_Mutation_p.W205L	p.W3250L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9869	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3250					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9749G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077375	0.76415	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.90385	-2.66;-2.66;-2.66	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000006	D	0.91971	0.7457	M	0.82630	2.6	0.80722	D	1	B	0.16396	0.017	B	0.16722	0.016	D	0.88509	0.3088	10	0.52906	T	0.07	-7.5915	19.8946	0.96949	0.0:0.0:1.0:0.0	.	3250	Q92736	RYR2_HUMAN	L	3250;3248;3234;205	ENSP00000355533:W3250L;ENSP00000353174:W3248L;ENSP00000443798:W3234L	ENSP00000353174:W3248L	W	+	2	0	RYR2	235937040	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.813000	0.99286	2.711000	0.92665	0.655000	0.94253	TGG		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	42	1	0	5.16669e-11	0.010729	8.05813e-11	12	42				
ZP4	57829	broad.mit.edu	37	1	238049089	238049089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:238049089C>A	ENST00000366570.4	-	7	1095	c.937G>T	c.(937-939)Gga>Tga	p.G313*	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	313	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGAGGGGTCCAGGCTGGGTC	0.527																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(937-939)GGA>TGA		zona pellucida glycoprotein 4 preproprotein							126.0	123.0	124.0					1																	238049089		2203	4300	6503	SO:0001587	stop_gained	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238049089C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.937G>T	1.37:g.238049089C>A	ENSP00000355529:p.Gly313*					LOC100130331_uc010pyc.1_Intron	p.G313*	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		7	937	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	313			ZP.|Extracellular (Potential).		B2RAE1	Nonsense_Mutation	SNP	ENST00000366570.4	37	c.937G>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576546	0.97676	.	.	ENSG00000116996	ENST00000366570	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.056	15.1812	0.72960	0.0:1.0:0.0:0.0	.	.	.	.	X	313	.	ENSP00000355529:G313X	G	-	1	0	ZP4	236115712	0.984000	0.35163	0.412000	0.26496	0.756000	0.42949	3.669000	0.54561	2.242000	0.73789	0.650000	0.86243	GGA		0.527	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			11	38	1	0	5.50884e-06	0.001368	6.94735e-06	11	38				
FMN2	56776	broad.mit.edu	37	1	240341258	240341258	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:240341258C>A	ENST00000319653.9	+	3	2050	c.1820C>A	c.(1819-1821)cCc>cAc	p.P607H	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	607					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTTAGTCAACCCACACACTCA	0.413																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1819-1821)CCC>CAC		formin 2							96.0	93.0	94.0					1																	240341258		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240341258C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1820C>A	1.37:g.240341258C>A	ENSP00000318884:p.Pro607His					FMN2_uc010pye.1_Missense_Mutation_p.P607H	p.P607H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2045	+	Ovarian(103;0.127)	all_cancers(173;0.013)	607					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1820C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863616	0.51482	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80214	-1.35;-1.35	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	D	0.89979	0.6872	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90224	0.4274	10	0.87932	D	0	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	607	Q9NZ56	FMN2_HUMAN	H	40;607	ENSP00000409308:P40H;ENSP00000318884:P607H	ENSP00000318884:P607H	P	+	2	0	FMN2	238407881	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.326000	0.65875	2.878000	0.98634	0.650000	0.86243	CCC		0.413	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	50	1	0	1.76689e-08	0.006214	2.52626e-08	8	50				
RGS7	6000	broad.mit.edu	37	1	240969580	240969580	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:240969580C>G	ENST00000407727.1	-	14	1128	c.1129G>C	c.(1129-1131)Gta>Cta	p.V377L	RGS7_ENST00000401882.1_Missense_Mutation_p.V324L|RGS7_ENST00000366563.1_Missense_Mutation_p.V377L|RGS7_ENST00000366565.1_Missense_Mutation_p.V377L|RGS7_ENST00000366564.1_Missense_Mutation_p.V377L|RGS7_ENST00000331110.7_Missense_Mutation_p.V351L|RGS7_ENST00000348120.2_Missense_Mutation_p.V324L|RGS7_ENST00000446183.2_Missense_Mutation_p.V293L|RGS7_ENST00000366562.4_Missense_Mutation_p.V377L			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	377	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGAGGGTACTTCTTTAATA	0.453																																							uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1129-1131)GTA>CTA		regulator of G-protein signaling 7							123.0	120.0	121.0					1																	240969580		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240969580C>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1129G>C	1.37:g.240969580C>G	ENSP00000384428:p.Val377Leu					RGS7_uc010pyh.1_Missense_Mutation_p.V351L|RGS7_uc010pyj.1_Missense_Mutation_p.V293L|RGS7_uc001hyu.2_Missense_Mutation_p.V377L|RGS7_uc009xgn.1_Missense_Mutation_p.V324L|RGS7_uc001hyw.2_Missense_Mutation_p.V377L|RGS7_uc001hyt.2_Missense_Mutation_p.V209L	p.V377L	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		15	1459	-		all_cancers(173;0.0131)	377			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1129G>C		.	.	.	.	.	.	.	.	.	.	C	27.2	4.810098	0.90707	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.01665	4.7;4.7;4.7;4.7;4.7;4.7;4.7;4.7;4.7;4.7	5.95	5.95	0.96441	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.05044	0.0135	L	0.39020	1.185	0.80722	D	1	B;B;P;B;D;B;P	0.59767	0.133;0.411;0.956;0.109;0.986;0.172;0.554	B;B;P;B;P;B;B	0.55545	0.234;0.179;0.778;0.235;0.752;0.237;0.407	T	0.56998	-0.7886	10	0.33940	T	0.23	.	19.3906	0.94581	0.0:1.0:0.0:0.0	.	293;351;324;377;377;377;377	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	L	351;377;377;377;208;324;293;377;377;324	ENSP00000331485:V351L;ENSP00000355523:V377L;ENSP00000355522:V377L;ENSP00000355521:V377L;ENSP00000404399:V208L;ENSP00000341242:V324L;ENSP00000390138:V293L;ENSP00000355520:V377L;ENSP00000384428:V377L;ENSP00000385508:V324L	ENSP00000331485:V351L	V	-	1	0	RGS7	239036203	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	GTA		0.453	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		35	50	0	0	0	0.002836	0	35	50				
EXO1	9156	broad.mit.edu	37	1	242035553	242035553	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:242035553C>T	ENST00000366548.3	+	12	2080	c.1487C>T	c.(1486-1488)gCa>gTa	p.A496V	EXO1_ENST00000348581.5_Missense_Mutation_p.A496V|EXO1_ENST00000518483.1_Missense_Mutation_p.A496V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	496					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAAAGTGGTGCAGTTGTGGTT	0.363								Editing and processing nucleases																															uc001hzh.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1486-1488)GCA>GTA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							117.0	119.0	118.0					1																	242035553		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242035553C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1487C>T	1.37:g.242035553C>T	ENSP00000355506:p.Ala496Val					EXO1_uc001hzi.2_Missense_Mutation_p.A496V|EXO1_uc001hzj.2_Missense_Mutation_p.A496V|EXO1_uc009xgq.2_Missense_Mutation_p.A495V	p.A496V	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		12	2027	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	496					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.1487C>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190824	0.78789	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.52526	0.66;0.66;0.66	5.94	4.06	0.47325	.	0.244647	0.41500	D	0.000874	T	0.58424	0.2121	M	0.71581	2.175	0.41229	D	0.98656	P;D;P	0.55385	0.951;0.971;0.951	P;P;P	0.55577	0.606;0.779;0.584	T	0.57329	-0.7830	10	0.33141	T	0.24	-7.3367	11.6559	0.51318	0.0:0.8075:0.1248:0.0677	.	495;496;496	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	V	496	ENSP00000355506:A496V;ENSP00000311873:A496V;ENSP00000430251:A496V	ENSP00000311873:A496V	A	+	2	0	EXO1	240102176	0.969000	0.33509	0.909000	0.35828	0.996000	0.88848	3.244000	0.51399	0.837000	0.34925	0.557000	0.71058	GCA		0.363	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		11	47	0	0	0	0.010729	0	11	47				
KIF26B	55083	broad.mit.edu	37	1	245582880	245582880	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:245582880G>T	ENST00000407071.2	+	4	1439		c.e4-1			NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B						establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TTCTTTGTCAGATCTCCCAGC	0.537																																							uc001ibf.1		NA																	0				ovary(3)	3						c.e4-1		kinesin family member 26B							38.0	39.0	38.0					1																	245582880		1964	4149	6113	SO:0001630	splice_region_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245582880G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1000-1G>T	1.37:g.245582880G>T						KIF26B_uc010pyq.1_Splice_Site_p.I334_splice	p.I334_splice	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		4	1440	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)							Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Splice_Site	SNP	ENST00000407071.2	37	c.1000_splice	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593038	0.86953	.	.	ENSG00000162849	ENST00000407071	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9169	0.97065	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF26B	243649503	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.915000	0.87484	2.696000	0.92011	0.579000	0.79373	.		0.537	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	Intron	11	24	1	0	0.000673444	0.008291	0.00075369	11	24				
AHCTF1	25909	broad.mit.edu	37	1	247024416	247024416	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:247024416C>A	ENST00000391829.2	-	29	4040	c.3917G>T	c.(3916-3918)gGa>gTa	p.G1306V	AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1315V|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.G1341V			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1306	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTGCTGTTTCCTTTGCTCAC	0.448																																					Colon(145;197 1800 4745 15099 26333)	Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(3916-3918)GGA>GTA		transcription factor ELYS							74.0	64.0	68.0					1																	247024416		2203	4298	6501	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024416C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3917G>T	1.37:g.247024416C>A	ENSP00000375705:p.Gly1306Val					AHCTF1_uc001ibv.1_Missense_Mutation_p.G1315V|AHCTF1_uc009xgs.1_Missense_Mutation_p.G167V|AHCTF1_uc001ibw.1_RNA	p.G1306V	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		28	3924	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1306			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3917G>T		.	.	.	.	.	.	.	.	.	.	C	8.791	0.930533	0.18131	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32272	1.46;1.47;1.47	5.86	4.68	0.58851	.	0.172820	0.40469	N	0.001083	T	0.13286	0.0322	N	0.08118	0	0.45477	D	0.998447	P;B;B	0.41265	0.744;0.302;0.201	B;B;B	0.32864	0.154;0.143;0.019	T	0.07635	-1.0762	10	0.44086	T	0.13	-11.4821	8.7787	0.34778	0.0:0.1477:0.0:0.8523	.	167;1341;1306	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	V	1341;1315;1306	ENSP00000355464:G1341V;ENSP00000355465:G1315V;ENSP00000375705:G1306V	ENSP00000355465:G1315V	G	-	2	0	AHCTF1	245091039	1.000000	0.71417	0.997000	0.53966	0.168000	0.22595	2.592000	0.46171	1.142000	0.42291	-0.300000	0.09419	GGA		0.448	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		8	27	1	0	0.000157383	0.00308	0.000182879	8	27				
AHCTF1	25909	broad.mit.edu	37	1	247063718	247063718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:247063718C>A	ENST00000391829.2	-	9	1294	c.1171G>T	c.(1171-1173)Gga>Tga	p.G391*	AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.G400*|AHCTF1_ENST00000470300.1_5'Flank|AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.G426*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	391	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTCCCTGTCCATATATATTC	0.348																																					Colon(145;197 1800 4745 15099 26333)	Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(1171-1173)GGA>TGA		transcription factor ELYS							41.0	44.0	43.0					1																	247063718		2202	4294	6496	SO:0001587	stop_gained	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247063718C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1171G>T	1.37:g.247063718C>A	ENSP00000375705:p.Gly391*					AHCTF1_uc001ibv.1_Nonsense_Mutation_p.G400*|AHCTF1_uc009xgs.1_5'Flank	p.G391*	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		8	1178	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	391			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	ENST00000391829.2	37	c.1171G>T		.	.	.	.	.	.	.	.	.	.	C	40	8.464986	0.98822	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.9641	19.1076	0.93303	0.0:1.0:0.0:0.0	.	.	.	.	X	426;400;391	.	ENSP00000355465:G400X	G	-	1	0	AHCTF1	245130341	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.256000	0.78350	2.589000	0.87451	0.455000	0.32223	GGA		0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		8	39	1	0	5.4927e-09	0.004482	8.0151e-09	8	39				
ZNF670	93474	broad.mit.edu	37	1	247202732	247202732	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:247202732G>T	ENST00000366503.2	-	2	269	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CCAGGTTCCTGAAGATTTCTT	0.453																																							uc001icd.1		NA																	0				ovary(1)	1						c.(109-111)TTC>TTA		zinc finger protein 670							107.0	101.0	103.0					1																	247202732		2203	4300	6503	SO:0001583	missense	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247202732G>T		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.111C>A	1.37:g.247202732G>T	ENSP00000355459:p.Phe37Leu					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.F37L	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		2	282	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	37			KRAB.			Missense_Mutation	SNP	ENST00000366503.2	37	c.111C>A	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	G	4.125	0.021364	0.08006	.	.	ENSG00000135747	ENST00000366503	T	0.01902	4.57	0.46	-0.92	0.10475	Krueppel-associated box (4);	.	.	.	.	T	0.01661	0.0053	L	0.28556	0.865	0.21950	N	0.999456	B	0.14805	0.011	B	0.21360	0.034	T	0.49312	-0.8953	8	0.35671	T	0.21	.	.	.	.	.	37	Q9BS34	ZN670_HUMAN	L	37	ENSP00000355459:F37L	ENSP00000355459:F37L	F	-	3	2	ZNF670	245269355	0.000000	0.05858	0.039000	0.18376	0.070000	0.16714	-1.121000	0.03270	-2.057000	0.00897	-1.279000	0.01387	TTC		0.453	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		9	47	1	0	2.17888e-05	0.006214	2.68607e-05	9	47				
ZNF669	79862	broad.mit.edu	37	1	247263971	247263971	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:247263971C>A	ENST00000343381.6	-	4	1272	c.1100G>T	c.(1099-1101)tGt>tTt	p.C367F	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.C281F	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGCTTTGCCACATTGTTTACA	0.408																																							uc001ice.2		NA																	0					0						c.(1099-1101)TGT>TTT		zinc finger protein 669 isoform 1							117.0	115.0	116.0					1																	247263971		2203	4300	6503	SO:0001583	missense	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247263971C>A		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.1100G>T	1.37:g.247263971C>A	ENSP00000342818:p.Cys367Phe					ZNF669_uc001icf.2_Missense_Mutation_p.C281F	p.C367F	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1273	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		367			C2H2-type 7.		B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	c.1100G>T	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299554	0.40694	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	D;D	0.85861	-2.04;-2.04	0.544	0.544	0.17185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93128	0.7812	H	0.96365	3.81	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.996;0.997	D	0.91017	0.4854	9	0.72032	D	0.01	.	6.8866	0.24206	0.0:0.9999:0.0:1.0E-4	.	281;367	B3KP94;Q96BR6	.;ZN669_HUMAN	F	281;281;367	ENSP00000404370:C281F;ENSP00000342818:C367F	ENSP00000342818:C367F	C	-	2	0	ZNF669	245330594	1.000000	0.71417	0.008000	0.14137	0.069000	0.16628	3.662000	0.54510	0.543000	0.28864	0.289000	0.19496	TGT		0.408	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		21	71	1	0	1.28384e-07	0.012319	1.7601e-07	21	71				
OR2W5	441932	broad.mit.edu	37	1	247654475	247654475	+	RNA	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:247654475G>T	ENST00000522351.1	+	0	106							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATCCTGGTGGGCTCTTCTGA	0.478																																							uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(46-48)GGC>TGC		olfactory receptor, family 2, subfamily W,							159.0	148.0	152.0					1																	247654475		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654475G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654475G>T							p.G16C	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	46	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	16					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.46G>T																																																																																					0.478	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		13	52	1	0	2.61681e-11	0.00245	4.11906e-11	13	52				
OR2C3	81472	broad.mit.edu	37	1	247695553	247695553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:247695553C>T	ENST00000366487.3	-	2	622	c.261G>A	c.(259-261)tgG>tgA	p.W87*	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	87						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(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTGTGGTCCCCAGAGGTTAG	0.547																																							uc009xgy.2		NA																	0				ovary(1)|skin(1)	2						c.(259-261)TGG>TGA		olfactory receptor, family 2, subfamily C,							98.0	95.0	96.0					1																	247695553		2203	4300	6503	SO:0001587	stop_gained	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695553C>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.261G>A	1.37:g.247695553C>T	ENSP00000355443:p.Trp87*					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.W87*	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	623	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	87			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Nonsense_Mutation	SNP	ENST00000366487.3	37	c.261G>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	35	5.529444	0.96446	.	.	ENSG00000196242	ENST00000366487	.	.	.	4.04	2.09	0.27110	.	0.225711	0.22812	U	0.055339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.22	0.25981	0.0:0.7281:0.1727:0.0992	.	.	.	.	X	87	.	ENSP00000355443:W87X	W	-	3	0	OR2C3	245762176	0.000000	0.05858	0.983000	0.44433	0.577000	0.36160	-1.669000	0.01958	0.444000	0.26612	0.650000	0.86243	TGG		0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		16	53	0	0	0	0.003163	0	16	53				
OR2G3	81469	broad.mit.edu	37	1	247769675	247769675	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:247769675G>C	ENST00000320002.2	+	1	820	c.788G>C	c.(787-789)aGt>aCt	p.S263T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGCAACCTAGTGACAGCTAT	0.463																																							uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(787-789)AGT>ACT		olfactory receptor, family 2, subfamily G,							105.0	99.0	101.0					1																	247769675		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769675G>C	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.788G>C	1.37:g.247769675G>C	ENSP00000326301:p.Ser263Thr						p.S263T	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	788	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		263			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.788G>C	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	6.318	0.426778	0.11987	.	.	ENSG00000177476	ENST00000320002	T	0.00137	8.68	3.65	0.473	0.16763	GPCR, rhodopsin-like superfamily (1);	0.555420	0.14693	U	0.304038	T	0.00109	0.0003	L	0.31157	0.91	0.09310	N	1	B	0.22480	0.07	B	0.29942	0.109	T	0.30650	-0.9971	10	0.45353	T	0.12	.	0.9927	0.01460	0.2134:0.1816:0.4186:0.1864	.	263	Q8NGZ4	OR2G3_HUMAN	T	263	ENSP00000326301:S263T	ENSP00000326301:S263T	S	+	2	0	OR2G3	245836298	0.000000	0.05858	0.000000	0.03702	0.811000	0.45836	-1.890000	0.01613	-0.004000	0.14419	0.492000	0.49549	AGT		0.463	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			9	47	0	0	0	0.004482	0	9	47				
OR2W3	343171	broad.mit.edu	37	1	248059293	248059293	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248059293C>A	ENST00000360358.3	+	1	405	c.405C>A	c.(403-405)atC>atA	p.I135I	OR2W3_ENST00000537741.1_Silent_p.I135I	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACATGGTGATCATGAACCCCA	0.617																																							uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(403-405)ATC>ATA		olfactory receptor, family 2, subfamily W,							91.0	70.0	77.0					1																	248059293		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059293C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.405C>A	1.37:g.248059293C>A						OR2W3_uc010pzb.1_Silent_p.I135I	p.I135I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	674	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		135			Cytoplasmic (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.405C>A	CCDS31099.1																																																																																				0.617	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		14	38	1	0	1.05317e-09	0.00245	1.57466e-09	14	38				
OR2L8	391190	broad.mit.edu	37	1	248112346	248112346	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248112346A>G	ENST00000357191.3	+	1	187	c.187A>G	c.(187-189)Agt>Ggt	p.S63G	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTCCTACTGAGTCAGCTCTC	0.428																																							uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(187-189)AGT>GGT		olfactory receptor, family 2, subfamily L,							383.0	334.0	350.0					1																	248112346		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112346A>G	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.187A>G	1.37:g.248112346A>G	ENSP00000349719:p.Ser63Gly					OR2L13_uc001ids.2_Intron	p.S63G	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	187	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		63			Helical; Name=2; (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.187A>G	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755822	0.31046	.	.	ENSG00000196936	ENST00000357191	T	0.00484	7.08	1.48	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	L	0.49513	1.565	0.09310	N	1	P	0.51351	0.944	P	0.52109	0.69	T	0.53012	-0.8498	9	0.59425	D	0.04	.	2.6219	0.04919	0.3728:0.2152:0.0:0.4121	.	63	Q8NGY9	OR2L8_HUMAN	G	63	ENSP00000349719:S63G	ENSP00000349719:S63G	S	+	1	0	OR2L8	246178969	0.000000	0.05858	0.330000	0.25442	0.762000	0.43233	-1.031000	0.03578	0.670000	0.31165	0.248000	0.18094	AGT		0.428	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			26	262	0	0	0	0.005443	0	26	262				
OR2L8	391190	broad.mit.edu	37	1	248112525	248112525	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248112525C>T	ENST00000357191.3	+	1	366	c.366C>T	c.(364-366)taC>taT	p.Y122Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGATCGTTACATTGCTATTT	0.448																																							uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(364-366)TAC>TAT		olfactory receptor, family 2, subfamily L,							307.0	261.0	277.0					1																	248112525		2203	4300	6503	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112525C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.366C>T	1.37:g.248112525C>T						OR2L13_uc001ids.2_Intron	p.Y122Y	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	366	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		122			Cytoplasmic (Potential).		Q6IF03	Silent	SNP	ENST00000357191.3	37	c.366C>T	CCDS31101.1																																																																																				0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			32	152	0	0	0	0.008361	0	32	152				
OR2L3	391192	broad.mit.edu	37	1	248224240	248224240	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248224240C>A	ENST00000359959.3	+	1	257	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			GATTTTCTGTCTGGTAACAAG	0.443																																							uc001idx.1		NA																	0					0						c.(256-258)TCT>TAT		olfactory receptor, family 2, subfamily L,							294.0	269.0	277.0					1																	248224240		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224240C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.257C>A	1.37:g.248224240C>A	ENSP00000353044:p.Ser86Tyr					OR2L13_uc001ids.2_Intron	p.S86Y	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	257	+	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)		86			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.257C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.866239	0.00547	.	.	ENSG00000198128	ENST00000359959	T	0.04970	3.52	1.91	-3.81	0.04294	GPCR, rhodopsin-like superfamily (1);	0.846464	0.09625	U	0.777036	T	0.07683	0.0193	M	0.89785	3.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56902	-0.7902	10	0.02654	T	1	.	1.2872	0.02053	0.4743:0.1199:0.2398:0.166	.	86	Q8NG85	OR2L3_HUMAN	Y	86	ENSP00000353044:S86Y	ENSP00000353044:S86Y	S	+	2	0	OR2L3	246290863	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.890000	0.00341	-2.311000	0.00649	-3.883000	0.00017	TCT		0.443	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		19	192	1	0	1.836e-18	0.003755	3.32396e-18	19	192				
OR2L13	284521	broad.mit.edu	37	1	248263312	248263312	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248263312G>T	ENST00000358120.2	+	2	780	c.635G>T	c.(634-636)gGc>gTc	p.G212V	OR2L13_ENST00000366478.2_Missense_Mutation_p.G212V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G212D(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CCTTTCATTGGCATCACTTCT	0.428																																							uc001ids.2		NA																	2	Substitution - Missense(2)		endometrium(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(634-636)GGC>GTC		olfactory receptor, family 2, subfamily L,							170.0	163.0	165.0					1																	248263312		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263312G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.635G>T	1.37:g.248263312G>T	ENSP00000350836:p.Gly212Val						p.G212V	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	972	+	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)		212			Helical; Name=5; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.635G>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.107134	0.00033	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.31769	1.48;1.48	4.21	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000228	T	0.21801	0.0525	N	0.02334	-0.595	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.25398	-1.0133	10	0.02654	T	1	.	11.1934	0.48698	0.0:0.0:0.4492:0.5508	.	212	Q8N349	OR2LD_HUMAN	V	212	ENSP00000355434:G212V;ENSP00000350836:G212V	ENSP00000350836:G212V	G	+	2	0	OR2L13	246329935	0.000000	0.05858	0.065000	0.19835	0.007000	0.05969	-0.366000	0.07563	0.966000	0.38159	-0.127000	0.14921	GGC		0.428	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		11	60	1	0	3.07112e-06	0.010729	3.94924e-06	11	60				
OR2M3	127062	broad.mit.edu	37	1	248367101	248367101	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248367101C>A	ENST00000456743.1	+	1	770	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	244						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)			GTTCCTCTCACCTCTTGGTGG	0.478																																							uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(730-732)CAC>CAA		olfactory receptor, family 2, subfamily M,							241.0	224.0	230.0					1																	248367101		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367101C>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.732C>A	1.37:g.248367101C>A	ENSP00000389625:p.His244Gln						p.H244Q	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	732	+	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)		244			Helical; Name=6; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.732C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425105	0.43020	.	.	ENSG00000228198	ENST00000456743	T	0.00307	8.17	2.54	-0.138	0.13464	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33515	U	0.004832	T	0.00815	0.0027	H	0.96048	3.76	0.24681	N	0.993367	D	0.89917	1.0	D	0.83275	0.996	T	0.36187	-0.9758	10	0.87932	D	0	.	6.6146	0.22771	0.0:0.5179:0.0:0.4821	.	244	Q8NG83	OR2M3_HUMAN	Q	244	ENSP00000389625:H244Q	ENSP00000389625:H244Q	H	+	3	2	OR2M3	246433724	0.219000	0.23619	0.012000	0.15200	0.004000	0.04260	0.518000	0.22847	0.160000	0.19432	0.398000	0.26397	CAC		0.478	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		36	170	1	0	2.47316e-13	0.003271	4.11789e-13	36	170				
OR2T33	391195	broad.mit.edu	37	1	248436766	248436766	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248436766G>T	ENST00000318021.2	-	1	372	c.351C>A	c.(349-351)gcC>gcA	p.A117A		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			AGCGGTCATAGGCCATGGCTG	0.597																																							uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(349-351)GCC>GCA		olfactory receptor, family 2, subfamily T,							38.0	36.0	36.0					1																	248436766		2201	4278	6479	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436766G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.351C>A	1.37:g.248436766G>T							p.A117A	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	351	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		117			Helical; Name=3; (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.351C>A	CCDS31109.1																																																																																				0.597	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		9	75	1	0	0.000978159	0.010729	0.00109184	9	75				
OR2T33	391195	broad.mit.edu	37	1	248436792	248436792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248436792C>A	ENST00000318021.2	-	1	346	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			AGGAAGCACTCTCCACCACCC	0.587																																							uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(325-327)GAG>TAG		olfactory receptor, family 2, subfamily T,							38.0	37.0	37.0					1																	248436792		2202	4279	6481	SO:0001587	stop_gained	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436792C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.325G>T	1.37:g.248436792C>A	ENSP00000324687:p.Glu109*						p.E109*	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	325	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		109			Helical; Name=3; (Potential).		B2RNN0	Nonsense_Mutation	SNP	ENST00000318021.2	37	c.325G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	10.93	1.490658	0.26686	.	.	ENSG00000177212	ENST00000318021	.	.	.	2.7	2.7	0.31948	.	0.000000	0.35555	U	0.003138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8042	0.63220	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000324687:E109X	E	-	1	0	OR2T33	246503415	0.004000	0.15560	0.617000	0.29091	0.045000	0.14185	0.624000	0.24462	1.437000	0.47472	0.494000	0.49563	GAG		0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		9	86	1	0	6.90743e-12	0.003755	1.10259e-11	9	86				
OR14C36	127066	broad.mit.edu	37	1	248512964	248512964	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248512964G>T	ENST00000317861.1	+	1	888	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						AGCAAATAAAGGTGGCCATCA	0.378																																							uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(886-888)AAG>AAT		olfactory receptor, family 14, subfamily C,							65.0	79.0	74.0					1																	248512964		2159	4198	6357	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512964G>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.888G>T	1.37:g.248512964G>T	ENSP00000324534:p.Lys296Asn						p.K296N	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	888	+			296			Cytoplasmic (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.888G>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261962	0.23051	.	.	ENSG00000177174	ENST00000317861	T	0.40756	1.02	3.81	-3.21	0.05140	.	0.159117	0.28241	N	0.016076	T	0.35856	0.0946	L	0.60012	1.86	0.09310	N	1	B	0.31859	0.343	B	0.33620	0.167	T	0.33523	-0.9865	10	0.87932	D	0	.	11.3051	0.49329	0.488:0.0:0.512:0.0	.	296	Q8NHC7	O14CZ_HUMAN	N	296	ENSP00000324534:K296N	ENSP00000324534:K296N	K	+	3	2	OR14C36	246579587	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.495000	0.06443	-0.911000	0.03843	-0.531000	0.04308	AAG		0.378	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		12	95	1	0	1.61879e-10	0.001368	2.4927e-10	12	95				
OR2T6	254879	broad.mit.edu	37	1	248551251	248551251	+	Silent	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248551251G>C	ENST00000355728.2	+	1	342	c.342G>C	c.(340-342)ctG>ctC	p.L114L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATTCTTCCTGCTGGGGCTCA	0.567																																							uc001iei.1		NA																	0				ovary(2)|skin(1)	3						c.(340-342)CTG>CTC		olfactory receptor, family 2, subfamily T,							91.0	95.0	93.0					1																	248551251		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551251G>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.342G>C	1.37:g.248551251G>C							p.L114L	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	342	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		114			Helical; Name=3; (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.342G>C	CCDS31114.1																																																																																				0.567	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		6	81	0	0	0	0.001984	0	6	81				
OR2T10	127069	broad.mit.edu	37	1	248756958	248756959	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248756958_248756959CC>AA	ENST00000330500.2	-	1	141_142	c.111_112GG>TT	c.(109-114)atGGct>atTTct	p.37_38MA>IS	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A38S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGACACAGCCATCAAAAATA	0.446																																							uc010pzn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(109-114)ATGGCT>ATTTCT		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756958_248756959CC>AA		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.111_112delinsAA	1.37:g.248756958_248756959delinsAA	ENSP00000329210:p.M37_A38delinsIS						p.37_38MA>IS	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	111_112	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		37_38			Helical; Name=1; (Potential).		B2RNK7	Missense_Mutation	DNP	ENST00000330500.2	37	c.111_112GG>TT	CCDS31121.1																																																																																				0.446	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		13	42	0	0	0	0.004672	0	13	42				
GTPBP4	23560	broad.mit.edu	37	10	1060227	1060227	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:1060227G>T	ENST00000360803.4	+	15	1665	c.1583G>T	c.(1582-1584)gGt>gTt	p.G528V	GTPBP4_ENST00000545048.1_Missense_Mutation_p.G481V|GTPBP4_ENST00000538293.1_Missense_Mutation_p.G412V	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	528					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGTAGTCTTGGTGTTGACATG	0.403																																							uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(1582-1584)GGT>GTT		G protein-binding protein CRFG							195.0	156.0	170.0					10																	1060227		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1060227G>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1583G>T	10.37:g.1060227G>T	ENSP00000354040:p.Gly528Val					GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.G412V|GTPBP4_uc010qae.1_Missense_Mutation_p.G481V	p.G528V	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	15	1654	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	528					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1583G>T	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000405	0.74818	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.37752	1.18;1.2;1.18	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.79225	-0.1891	10	0.87932	D	0	-29.2517	19.2447	0.93898	0.0:0.0:1.0:0.0	.	528	Q9BZE4	NOG1_HUMAN	V	528;412;481	ENSP00000354040:G528V;ENSP00000444277:G412V;ENSP00000445473:G481V	ENSP00000354040:G528V	G	+	2	0	GTPBP4	1050227	1.000000	0.71417	0.977000	0.42913	0.470000	0.32858	8.980000	0.93460	2.640000	0.89533	0.650000	0.86243	GGT		0.403	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		9	45	1	0	1.58986e-06	0.008291	2.08065e-06	9	45				
ATP5C1	509	broad.mit.edu	37	10	7829784	7829784	+	5'Flank	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:7829784T>A	ENST00000356708.7	+	0	0				KIN_ENST00000543003.1_5'UTR|ATP5C1_ENST00000541227.1_5'Flank|ATP5C1_ENST00000335698.4_5'Flank|KIN_ENST00000379562.4_Splice_Site_p.E38V|KIN_ENST00000535925.1_Splice_Site_p.E38V	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1						ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CCCACTCACCTCGTCCCGGCA	0.647																																					Melanoma(143;1012 1820 16249 30920 33158)		uc001ijt.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(112-114)GAG>GTG		HsKin17 protein							82.0	84.0	83.0					10																	7829784		2203	4300	6503	SO:0001631	upstream_gene_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7829784T>A	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639		10.37:g.7829784T>A	Exception_encountered					KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.E38V|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank	p.E38V	NM_012311	NP_036443	O60870	KIN17_HUMAN			1	161	-			38			C2H2-type.		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.113A>T	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	T	36	5.629173	0.96671	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	M	0.91818	3.245	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	D	0.88791	0.3278	9	0.87932	D	0	-33.517	16.4523	0.83996	0.0:0.0:0.0:1.0	.	38;38	B4DX32;O60870	.;KIN17_HUMAN	V	38	.	ENSP00000368881:E38V	E	-	2	0	KIN	7869790	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.592000	0.67543	2.286000	0.76751	0.455000	0.32223	GAG		0.647	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		23	62	0	0	0	0.00333	0	23	62				
FAM171A1	221061	broad.mit.edu	37	10	15255361	15255361	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:15255361A>T	ENST00000378116.4	-	8	2232	c.2226T>A	c.(2224-2226)tcT>tcA	p.S742S	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	742						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TATCTACGCCAGAGTCCAAAC	0.507																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2224-2226)TCT>TCA		hypothetical protein LOC221061 precursor							108.0	85.0	93.0					10																	15255361		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255361A>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2226T>A	10.37:g.15255361A>T							p.S742S	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	2233	-			742			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.2226T>A	CCDS31154.1																																																																																				0.507	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		11	50	0	0	0	0.008291	0	11	50				
ITGA8	8516	broad.mit.edu	37	10	15617595	15617595	+	Splice_Site	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:15617595T>A	ENST00000378076.3	-	24	2726		c.e24-2			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTGACACTCTGAAACATGAA	0.438																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.e24-1		integrin, alpha 8 precursor							103.0	92.0	96.0					10																	15617595		2203	4300	6503	SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15617595T>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2373-2A>T	10.37:g.15617595T>A						ITGA8_uc010qcb.1_Splice_Site_p.G776_splice	p.G791_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN			24	2373	-								B0YJ31|Q5VX94	Splice_Site	SNP	ENST00000378076.3	37	c.2373_splice	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947617	0.34377	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8826	0.70545	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15657601	1.000000	0.71417	0.964000	0.40570	0.083000	0.17756	6.439000	0.73430	2.213000	0.71641	0.528000	0.53228	.		0.438	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Intron	10	25	0	0	0	0.006214	0	10	25				
ITGA8	8516	broad.mit.edu	37	10	15647745	15647745	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:15647745C>A	ENST00000378076.3	-	19	2301	c.1948G>T	c.(1948-1950)Gac>Tac	p.D650Y	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	650					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGCTTCAAGTCAGGAACACAC	0.393																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1948-1950)GAC>TAC		integrin, alpha 8 precursor							104.0	91.0	96.0					10																	15647745		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15647745C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1948G>T	10.37:g.15647745C>A	ENSP00000367316:p.Asp650Tyr					ITGA8_uc010qcb.1_Missense_Mutation_p.D635Y	p.D650Y	NM_003638	NP_003629	P53708	ITA8_HUMAN			19	1948	-			650			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1948G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501439	0.85176	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.58652	0.32	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.042670	0.85682	D	0.000000	T	0.79393	0.4438	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69142	0.937;0.962	T	0.82464	-0.0444	10	0.87932	D	0	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	635;650	F5H818;P53708	.;ITA8_HUMAN	Y	650;635	ENSP00000367316:D650Y	ENSP00000367316:D650Y	D	-	1	0	ITGA8	15687751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.714000	0.74692	2.603000	0.88011	0.655000	0.94253	GAC		0.393	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		8	28	1	0	5.18039e-06	0.00308	6.58689e-06	8	28				
ITGA8	8516	broad.mit.edu	37	10	15726004	15726004	+	Splice_Site	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:15726004G>C	ENST00000378076.3	-	4	920	c.567C>G	c.(565-567)aaC>aaG	p.N189K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	189					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTGCTTACTGTTCCGGCAAG	0.453																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(565-567)AAC>AAG		integrin, alpha 8 precursor							89.0	91.0	90.0					10																	15726004		2203	4300	6503	SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15726004G>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.568+1C>G	10.37:g.15726004G>C						ITGA8_uc010qcb.1_Missense_Mutation_p.N189K	p.N189K	NM_003638	NP_003629	P53708	ITA8_HUMAN			4	567	-			189			FG-GAP 3.|Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.567C>G	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792025	0.50102	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.53423	0.62	5.79	5.79	0.91817	.	0.219135	0.53938	D	0.000041	T	0.41305	0.1153	L	0.37630	1.12	0.45076	D	0.998092	P;P	0.47762	0.9;0.839	P;B	0.45794	0.493;0.298	T	0.14476	-1.0471	10	0.32370	T	0.25	.	10.4163	0.44325	0.1438:0.0:0.8562:0.0	.	189;189	F5H818;P53708	.;ITA8_HUMAN	K	189	ENSP00000367316:N189K	ENSP00000367316:N189K	N	-	3	2	ITGA8	15766010	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	3.122000	0.50446	2.746000	0.94184	0.655000	0.94253	AAC		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Missense_Mutation	9	42	0	0	0	0.010729	0	9	42				
FAM188A	80013	broad.mit.edu	37	10	15902296	15902296	+	Start_Codon_SNP	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:15902296C>A	ENST00000277632.3	-	1	223	c.3G>T	c.(1-3)atG>atT	p.M1I	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	1					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCAGTTCGGACATGATGAGGA	0.637																																					Pancreas(159;946 1953 2111 4475 22008)	Pancreas(159;946 1953 2111 4475 22008)	uc001iod.1		NA																	0				ovary(1)	1						c.(1-3)ATG>ATT		chromosome 10 open reading frame 97							31.0	30.0	30.0					10																	15902296		2203	4300	6503	SO:0001582	initiator_codon_variant	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15902296C>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.3G>T	10.37:g.15902296C>A	ENSP00000277632:p.Met1Ile					FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Missense_Mutation_p.M1I	p.M1I	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN			1	224	-			1					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.3G>T	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422933	0.83559	.	.	ENSG00000148481	ENST00000277632	T	0.30448	1.53	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.44757	-0.9307	9	0.52906	T	0.07	-12.1417	13.2681	0.60146	0.0:1.0:0.0:0.0	.	1	Q9H8M7	F188A_HUMAN	I	1	ENSP00000277632:M1I	ENSP00000277632:M1I	M	-	3	0	FAM188A	15942302	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.541000	0.53618	2.485000	0.83878	0.655000	0.94253	ATG		0.637	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948	Missense_Mutation	3	10	1	0	0.004672	0.004672	0.00503002	3	10				
SLC39A12	221074	broad.mit.edu	37	10	18280167	18280168	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:18280167_18280168GG>TT	ENST00000377369.2	+	8	1630_1631	c.1357_1358GG>TT	c.(1357-1359)GGa>TTa	p.G453L	SLC39A12_ENST00000377371.3_Missense_Mutation_p.G453L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G453L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G319L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	453					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGATTAATTGGAGGCATCCAT	0.342																																							uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(1357-1359)GGA>TTA		solute carrier family 39 (zinc transporter),																																				SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18280167_18280168GG>TT		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	Exception_encountered	10.37:g.18280167_18280168delinsTT	ENSP00000366586:p.Gly453Leu					SLC39A12_uc001ipn.2_Missense_Mutation_p.G453L|SLC39A12_uc001ipp.2_Missense_Mutation_p.G453L|SLC39A12_uc010qck.1_Missense_Mutation_p.G319L	p.G453L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			8	1630_1631	+			453			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	DNP	ENST00000377369.2	37	c.1357_1358GG>TT	CCDS44362.1																																																																																				0.342	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		14	45	0	0	0	0.004672	0	14	45				
GPR158	57512	broad.mit.edu	37	10	25885700	25885700	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:25885700G>T	ENST00000376351.3	+	10	2486	c.2127G>T	c.(2125-2127)ttG>ttT	p.L709F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	709					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGCACAGCTTGGATCCAGAGG	0.473																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2125-2127)TTG>TTT		G protein-coupled receptor 158 precursor							127.0	106.0	113.0					10																	25885700		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25885700G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2127G>T	10.37:g.25885700G>T	ENSP00000365529:p.Leu709Phe					GPR158_uc001isk.2_Missense_Mutation_p.L84F	p.L709F	NM_020752	NP_065803	Q5T848	GP158_HUMAN			10	2187	+			709			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2127G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237499	0.79800	.	.	ENSG00000151025	ENST00000376351	T	0.64085	-0.08	6.16	3.06	0.35304	.	0.000000	0.56097	D	0.000027	T	0.75510	0.3859	M	0.71206	2.165	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.75235	-0.3389	10	0.72032	D	0.01	.	11.0004	0.47602	0.2156:0.0:0.7844:0.0	.	709	Q5T848	GP158_HUMAN	F	709	ENSP00000365529:L709F	ENSP00000365529:L709F	L	+	3	2	GPR158	25925706	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.720000	0.47252	0.370000	0.24538	0.650000	0.86243	TTG		0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		13	45	1	0	4.36969e-10	0.001855	6.60896e-10	13	45				
ANKRD26	22852	broad.mit.edu	37	10	27294557	27294557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:27294557C>A	ENST00000376087.4	-	34	5260	c.5095G>T	c.(5095-5097)Gaa>Taa	p.E1699*	ANKRD26_ENST00000376070.3_Nonsense_Mutation_p.E1256*|ANKRD26_ENST00000436985.2_Nonsense_Mutation_p.E1715*	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1698					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTACATATTCTCTTGATGCT	0.318																																							uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(5092-5094)GAA>TAA		ankyrin repeat domain 26							78.0	77.0	78.0					10																	27294557		1796	4069	5865	SO:0001587	stop_gained	22852					centrosome		g.chr10:27294557C>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.5095G>T	10.37:g.27294557C>A	ENSP00000365255:p.Glu1699*					ANKRD26_uc001itg.2_Nonsense_Mutation_p.E1385*|ANKRD26_uc009xku.1_Nonsense_Mutation_p.E1699*	p.E1698*	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			34	5264	-			1698					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Nonsense_Mutation	SNP	ENST00000376087.4	37	c.5092G>T	CCDS41499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.623339|10.623339	0.99439|0.99439	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985|ENST00000445828	.|T	.|0.25912	.|1.77	5.03|5.03	3.16|3.16	0.36331|0.36331	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31513	.|0.0799	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.07751	.|-1.0756	.|6	0.72032|0.72032	D|D	0.01|0.01	.|.	4.2504|4.2504	0.10691|0.10691	0.1616:0.5953:0.1565:0.0866|0.1616:0.5953:0.1565:0.0866	.|.	.|.	.|.	.|.	X|I	1256;1699;1715|186	.|ENSP00000394152:R186I	ENSP00000365238:E1256X|ENSP00000394152:R186I	E|R	-|-	1|2	0|0	ANKRD26|ANKRD26	27334563|27334563	0.972000|0.972000	0.33761|0.33761	0.070000|0.070000	0.20053|0.20053	0.498000|0.498000	0.33706|0.33706	0.397000|0.397000	0.20883|0.20883	0.627000|0.627000	0.30340|0.30340	0.313000|0.313000	0.20887|0.20887	GAA|AGA		0.318	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			10	54	1	0	2.17888e-05	0.006214	2.68607e-05	10	54				
PTCHD3	374308	broad.mit.edu	37	10	27687737	27687737	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:27687737G>T	ENST00000438700.3	-	4	1907	c.1790C>A	c.(1789-1791)aCa>aAa	p.T597K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	597					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						CTCACTCCTTGTGAGAAAGGG	0.378																																							uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1789-1791)ACA>AAA		patched domain containing 3							63.0	63.0	63.0					10																	27687737		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687737G>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.1790C>A	10.37:g.27687737G>T	ENSP00000417658:p.Thr597Lys						p.T597K	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	1908	-			597					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1790C>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644165	0.29246	.	.	ENSG00000182077	ENST00000438700	D	0.85556	-2.0	4.19	3.28	0.37604	.	0.346426	0.32769	N	0.005669	D	0.88945	0.6575	M	0.80422	2.495	0.23946	N	0.996381	P	0.45986	0.87	P	0.53988	0.739	T	0.81632	-0.0845	10	0.66056	D	0.02	-7.4371	9.1422	0.36910	0.1838:0.0:0.8162:0.0	.	597	Q3KNS1	PTHD3_HUMAN	K	597	ENSP00000417658:T597K	ENSP00000417658:T597K	T	-	2	0	PTCHD3	27727743	1.000000	0.71417	0.313000	0.25210	0.308000	0.27856	3.150000	0.50662	0.968000	0.38212	0.484000	0.47621	ACA		0.378	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		8	22	1	0	1.26484e-09	0.00308	1.88617e-09	8	22				
ITGB1	3688	broad.mit.edu	37	10	33200418	33200418	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:33200418C>T	ENST00000396033.2	-	13	2024	c.1889G>A	c.(1888-1890)tGt>tAt	p.C630Y	ITGB1_ENST00000374956.4_Missense_Mutation_p.C630Y|ITGB1_ENST00000302278.3_Missense_Mutation_p.C630Y|ITGB1_ENST00000423113.1_Missense_Mutation_p.C630Y	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	630	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ACACATCTCACACGTTTGCCC	0.478																																							uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1888-1890)TGT>TAT		integrin beta 1 isoform 1A precursor							110.0	101.0	104.0					10																	33200418		2203	4298	6501	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200418C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1889G>A	10.37:g.33200418C>T	ENSP00000379350:p.Cys630Tyr					ITGB1_uc001iwp.3_Missense_Mutation_p.C630Y|ITGB1_uc001iwq.3_Missense_Mutation_p.C630Y|ITGB1_uc001iwr.3_Missense_Mutation_p.C630Y|ITGB1_uc001iwt.3_Missense_Mutation_p.C630Y|ITGB1_uc001iwu.1_Missense_Mutation_p.C630Y	p.C630Y	NM_133376	NP_596867	P05556	ITB1_HUMAN			13	2025	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	630			Extracellular (Potential).|Cysteine-rich tandem repeats.|IV.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1889G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450135	0.84101	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.99724	-6.54;-6.54;-6.54;-6.54	5.62	5.62	0.85841	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.96616	0.9456	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	630;630;630;630;630	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	Y	630	ENSP00000379350:C630Y;ENSP00000388694:C630Y;ENSP00000303351:C630Y;ENSP00000364094:C630Y	ENSP00000303351:C630Y	C	-	2	0	ITGB1	33240424	1.000000	0.71417	0.829000	0.32907	0.816000	0.46133	7.677000	0.84024	2.809000	0.96659	0.655000	0.94253	TGT		0.478	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		9	46	0	0	0	0.004482	0	9	46				
HSD17B7P2	158160	broad.mit.edu	37	10	38651256	38651256	+	RNA	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:38651256C>A	ENST00000494540.1	+	0	403					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCTCTTTGGCCTCTTTTCAAG	0.378																																							uc010qex.1		NA																	0					0						c.(328-330)CTC>ATC		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38651256C>A			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38651256C>A						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.L108I	p.L110I							3	403	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.328C>A																																																																																					0.378	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		15	28	1	0	1.52009e-12	0.003163	2.49195e-12	15	28				
BMS1	9790	broad.mit.edu	37	10	43316061	43316061	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:43316061A>T	ENST00000374518.5	+	17	2938	c.2875A>T	c.(2875-2877)Atc>Ttc	p.I959F		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	959					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTGTATTATATCGAAGACCA	0.423																																							uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2875-2877)ATC>TTC		BMS1-like, ribosome assembly protein							52.0	54.0	54.0					10																	43316061		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316061A>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2875A>T	10.37:g.43316061A>T	ENSP00000363642:p.Ile959Phe						p.I959F	NM_014753	NP_055568	Q14692	BMS1_HUMAN			17	3233	+			959					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2875A>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.868002	0.72065	.	.	ENSG00000165733	ENST00000374518	T	0.17528	2.27	4.97	4.97	0.65823	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.057004	0.64402	D	0.000002	T	0.42517	0.1206	M	0.84082	2.675	0.54753	D	0.999988	D	0.76494	0.999	D	0.72075	0.976	T	0.39014	-0.9634	10	0.19590	T	0.45	.	14.9915	0.71393	1.0:0.0:0.0:0.0	.	959	Q14692	BMS1_HUMAN	F	959	ENSP00000363642:I959F	ENSP00000363642:I959F	I	+	1	0	BMS1	42636067	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	5.809000	0.69172	1.999000	0.58509	0.373000	0.22412	ATC		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		12	40	0	0	0	0.001368	0	12	40				
RET	5979	broad.mit.edu	37	10	43606842	43606842	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:43606842T>C	ENST00000355710.3	+	7	1683	c.1451T>C	c.(1450-1452)aTg>aCg	p.M484T	RET_ENST00000340058.5_Missense_Mutation_p.M484T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	484					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTTCACTACATGGTGGTGGCC	0.632		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1450-1452)ATG>ACG		ret proto-oncogene isoform a	Sunitinib(DB01268)						58.0	53.0	55.0					10																	43606842		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606842T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1451T>C	10.37:g.43606842T>C	ENSP00000347942:p.Met484Thr					RET_uc001jak.1_Missense_Mutation_p.M484T|RET_uc010qez.1_Missense_Mutation_p.M230T	p.M484T	NM_020975	NP_066124	P07949	RET_HUMAN			7	1641	+		Ovarian(717;0.0423)	484			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1451T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.401262	0.01165	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.76316	-0.89;-1.01	5.74	0.738	0.18319	.	0.751031	0.13820	N	0.360468	T	0.33876	0.0878	N	0.00237	-1.79	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46665	-0.9175	10	0.02654	T	1	.	5.9637	0.19313	0.1291:0.6178:0.0:0.2531	.	230;484;484	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	484	ENSP00000347942:M484T;ENSP00000344798:M484T	ENSP00000344798:M484T	M	+	2	0	RET	42926848	0.001000	0.12720	0.159000	0.22649	0.038000	0.13279	0.107000	0.15375	0.263000	0.21812	-0.242000	0.12053	ATG		0.632	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		11	27	0	0	0	0.008291	0	11	27				
ALOX5	240	broad.mit.edu	37	10	45941035	45941035	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:45941035T>G	ENST00000374391.2	+	14	1978	c.1925T>G	c.(1924-1926)cTc>cGc	p.L642R	ALOX5_ENST00000542434.1_Missense_Mutation_p.L585R|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	642	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CGCAAGAACCTCGAGGCCATT	0.537																																							uc001jce.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1924-1926)CTC>CGC		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						103.0	97.0	99.0					10																	45941035		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45941035T>G	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1925T>G	10.37:g.45941035T>G	ENSP00000363512:p.Leu642Arg					ALOX5_uc009xmt.2_Missense_Mutation_p.L610R|ALOX5_uc010qfg.1_Missense_Mutation_p.L585R	p.L642R	NM_000698	NP_000689	P09917	LOX5_HUMAN			14	2024	+		Lung SC(717;0.0257)	642			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1925T>G	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805130	0.70682	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.85013	-1.93;-1.93	5.14	5.14	0.70334	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.95043	3.615	0.49389	D	0.999786	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95552	0.8621	10	0.87932	D	0	-32.2223	13.2308	0.59943	0.0:0.0:0.0:1.0	.	585;610;642	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	R	585;642	ENSP00000437634:L585R;ENSP00000363512:L642R	ENSP00000363512:L642R	L	+	2	0	ALOX5	45261041	1.000000	0.71417	0.958000	0.39756	0.507000	0.33981	7.825000	0.86693	2.288000	0.76882	0.533000	0.62120	CTC		0.537	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			15	40	0	0	0	0.00245	0	15	40				
GPRIN2	9721	broad.mit.edu	37	10	46999948	46999948	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:46999948G>T	ENST00000374317.1	+	3	1341	c.1068G>T	c.(1066-1068)gcG>gcT	p.A356A	GPRIN2_ENST00000374314.4_Silent_p.A356A	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	356										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCTGGAAGCGCCTGCAGCCC	0.677																																							uc001jec.2		NA																	0					0						c.(1066-1068)GCG>GCT		G protein-regulated inducer of neurite outgrowth							90.0	85.0	87.0					10																	46999948		2203	4300	6503	SO:0001819	synonymous_variant	9721							g.chr10:46999948G>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1068G>T	10.37:g.46999948G>T						GPRIN2_uc010qfq.1_Silent_p.A119A	p.A356A	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	1203	+			356					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1068G>T	CCDS31192.1																																																																																				0.677	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		12	91	1	0	3.07112e-06	0.010729	3.94924e-06	12	91				
NPY4R	5540	broad.mit.edu	37	10	47087349	47087349	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:47087349C>A	ENST00000395716.1	+	2	651	c.566C>A	c.(565-567)tCc>tAc	p.S189Y	NPY4R_ENST00000374312.1_Missense_Mutation_p.S189Y			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	189					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AAGAACCACTCCAAGGCTCTG	0.582																																							uc001jee.2		NA																	0				ovary(1)|skin(1)	2						c.(565-567)TCC>TAC		pancreatic polypeptide receptor 1							174.0	147.0	156.0					10																	47087349		2203	4300	6503	SO:0001583	missense	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087349C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.566C>A	10.37:g.47087349C>A	ENSP00000379066:p.Ser189Tyr					ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.S189Y	p.S189Y	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	985	+			189			Extracellular (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.566C>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386344	0.61956	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.38401	1.14;1.14	4.92	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.536654	0.20224	N	0.096623	T	0.46718	0.1407	M	0.81112	2.525	0.40257	D	0.978131	P	0.52316	0.952	P	0.48952	0.596	T	0.49113	-0.8973	10	0.37606	T	0.19	.	10.6199	0.45474	0.0:0.9056:0.0:0.0944	.	189	P50391	NPY4R_HUMAN	Y	189	ENSP00000363431:S189Y;ENSP00000379066:S189Y	ENSP00000363431:S189Y	S	+	2	0	PPYR1	46507355	0.583000	0.26757	1.000000	0.80357	0.981000	0.71138	1.333000	0.33816	2.460000	0.83146	0.604000	0.83254	TCC		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			15	118	1	0	1.05317e-09	0.00245	1.57466e-09	15	118				
GDF2	2658	broad.mit.edu	37	10	48414232	48414232	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:48414232C>T	ENST00000249598.1	-	2	795	c.636G>A	c.(634-636)aaG>aaA	p.K212K		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	212					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGACCCAGCGCTTCACGGCGC	0.587																																							uc001jfa.1		NA																	0				ovary(2)|skin(1)	3						c.(634-636)AAG>AAA		growth differentiation factor 2 precursor							69.0	70.0	70.0					10																	48414232		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414232C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.636G>A	10.37:g.48414232C>T							p.K212K	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	799	-			212					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.636G>A	CCDS7219.1																																																																																				0.587	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		12	59	0	0	0	0.001368	0	12	59				
AGAP12P	414224	broad.mit.edu	37	10	49218444	49218444	+	IGR	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:49218444G>A								FAM25C (10626 upstream) : RNA5SP315 (30031 downstream)																							CCAGCAGCAGGATGGCTGTCT	0.642																																							uc001jgd.2		NA																	0					NA						c.(1693-1695)ATC>ATT		RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975;																																				SO:0001628	intergenic_variant	0							g.chr10:49218444G>A																													10.37:g.49218444G>A						uc001jge.1_5'Flank	p.I565I							8	1854	-									Silent	SNP		37	c.1695C>T																																																																																				0	0.642									23	106	0	0	0	0.009535	0	23	106				
CHAT	1103	broad.mit.edu	37	10	50863149	50863149	+	Missense_Mutation	SNP	G	G	T	rs141881680		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:50863149G>T	ENST00000337653.2	+	12	1796	c.1643G>T	c.(1642-1644)cGa>cTa	p.R548L	CHAT_ENST00000455728.2_Missense_Mutation_p.R430L|CHAT_ENST00000339797.1_Missense_Mutation_p.R430L|CHAT_ENST00000395562.2_Missense_Mutation_p.R466L|CHAT_ENST00000395559.2_Missense_Mutation_p.R430L|CHAT_ENST00000351556.3_Missense_Mutation_p.R430L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	548					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AGGCTCCATCGAAGACTGGTG	0.507																																							uc001jhz.2		NA																	0				central_nervous_system(3)	3						c.(1642-1644)CGA>CTA		choline acetyltransferase isoform 2	Choline(DB00122)						59.0	60.0	60.0					10																	50863149		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863149G>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1643G>T	10.37:g.50863149G>T	ENSP00000337103:p.Arg548Leu					CHAT_uc001jhv.1_Missense_Mutation_p.R430L|CHAT_uc001jhx.1_Missense_Mutation_p.R430L|CHAT_uc001jhy.1_Missense_Mutation_p.R430L|CHAT_uc001jia.2_Missense_Mutation_p.R430L|CHAT_uc010qgs.1_Missense_Mutation_p.R430L	p.R548L	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	12	1796	+		all_neural(218;0.107)	548					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1643G>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533640	0.27387	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05	5.58	-1.35	0.09114	.	0.425573	0.26183	N	0.025847	D	0.94518	0.8235	M	0.75615	2.305	0.09310	N	1	B;P	0.37038	0.125;0.579	B;B	0.37780	0.018;0.258	D	0.89562	0.3807	10	0.62326	D	0.03	-0.6617	11.873	0.52531	0.4004:0.0:0.5996:0.0	.	430;548	F8W8I2;P28329	.;CLAT_HUMAN	L	430;430;430;548;466;430	ENSP00000343486:R430L;ENSP00000345878:R430L;ENSP00000378926:R430L;ENSP00000337103:R548L;ENSP00000378929:R466L;ENSP00000390521:R430L	ENSP00000337103:R548L	R	+	2	0	CHAT	50533155	0.597000	0.26874	0.001000	0.08648	0.421000	0.31385	1.434000	0.34958	-0.140000	0.11394	-0.952000	0.02654	CGA		0.507	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		8	50	1	0	1.76689e-08	0.006214	2.52626e-08	8	50				
MBL2	4153	broad.mit.edu	37	10	54531239	54531239	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:54531239C>A	ENST00000373968.3	-	1	221	c.157G>T	c.(157-159)Gat>Tat	p.D53Y		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	53	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTGGTGCCATCACGCCCATCT	0.542																																							uc001jjt.2		NA																	0				ovary(1)	1						c.(157-159)GAT>TAT		soluble mannose-binding lectin precursor							134.0	120.0	125.0					10																	54531239		2203	4300	6503	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54531239C>A	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.157G>T	10.37:g.54531239C>A	ENSP00000363079:p.Asp53Tyr						p.D53Y	NM_000242	NP_000233	P11226	MBL2_HUMAN			1	222	-			53			Collagen-like.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.157G>T	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352516	0.61293	.	.	ENSG00000165471	ENST00000373968	D	0.83914	-1.78	3.99	3.08	0.35506	.	0.395981	0.22794	N	0.055575	D	0.92001	0.7466	M	0.93462	3.42	0.39118	D	0.961615	D	0.89917	1.0	D	0.83275	0.996	D	0.92715	0.6186	10	0.87932	D	0	-12.5329	9.2509	0.37554	0.2147:0.7853:0.0:0.0	.	53	P11226	MBL2_HUMAN	Y	53	ENSP00000363079:D53Y	ENSP00000363079:D53Y	D	-	1	0	MBL2	54201245	0.925000	0.31364	0.990000	0.47175	0.951000	0.60555	2.207000	0.42788	1.273000	0.44346	0.655000	0.94253	GAT		0.542	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		10	38	1	0	4.68919e-08	0.008291	6.60997e-08	10	38				
PCDH15	65217	broad.mit.edu	37	10	55569178	55569178	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:55569178T>A	ENST00000395445.1	-	36	5026	c.4632A>T	c.(4630-4632)agA>agT	p.R1544S	PCDH15_ENST00000395446.1_Missense_Mutation_p.R740S|PCDH15_ENST00000395442.1_Missense_Mutation_p.R409S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.R478S	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGGGAATATTCTGGCTCTCT	0.433										HNSCC(58;0.16)																													uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4645-4647)AGA>AGT		protocadherin 15 isoform CD2-1 precursor							171.0	159.0	162.0					10																	55569178		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569178T>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4632A>T	10.37:g.55569178T>A	ENSP00000378832:p.Arg1544Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1542S|PCDH15_uc010qhu.1_3'UTR	p.R1549S	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5042	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4647A>T		.	.	.	.	.	.	.	.	.	.	T	14.87	2.664616	0.47572	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68903	-0.23;-0.36;-0.01;-0.15	5.88	3.08	0.35506	.	.	.	.	.	T	0.43897	0.1268	N	0.19112	0.55	0.80722	D	1	B;B	0.27791	0.189;0.189	B;B	0.22386	0.039;0.039	T	0.16394	-1.0404	9	0.07990	T	0.79	.	9.3077	0.37885	0.0:0.7245:0.0:0.2755	.	1542;1544	C6ZEF5;A2A3E2	.;.	S	1544;740;409;478	ENSP00000378832:R1544S;ENSP00000378833:R740S;ENSP00000378829:R409S;ENSP00000378827:R478S	ENSP00000378827:R478S	R	-	3	2	PCDH15	55239184	0.394000	0.25246	1.000000	0.80357	0.707000	0.40811	-0.099000	0.11007	0.412000	0.25729	-0.789000	0.03336	AGA		0.433	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		26	88	0	0	0	0.00333	0	26	88				
PCDH15	65217	broad.mit.edu	37	10	55780091	55780091	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:55780091G>T	ENST00000320301.6	-	20	3006	c.2612C>A	c.(2611-2613)aCa>aAa	p.T871K	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T871K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.T878K|PCDH15_ENST00000414778.1_Missense_Mutation_p.T876K|PCDH15_ENST00000373955.1_Missense_Mutation_p.T871K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T871K|PCDH15_ENST00000409834.1_Missense_Mutation_p.T482K|PCDH15_ENST00000395433.1_Missense_Mutation_p.T849K|PCDH15_ENST00000395432.2_Missense_Mutation_p.T834K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T800K|PCDH15_ENST00000373965.2_Missense_Mutation_p.T878K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T871K|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	871	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGTTCTCCTGTAAATGGATG	0.403										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2611-2613)ACA>AAA		protocadherin 15 isoform CD1-4 precursor							172.0	166.0	168.0					10																	55780091		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55780091G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2612C>A	10.37:g.55780091G>T	ENSP00000322604:p.Thr871Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.T876K|PCDH15_uc010qhr.1_Missense_Mutation_p.T871K|PCDH15_uc010qhs.1_Missense_Mutation_p.T883K|PCDH15_uc010qht.1_Missense_Mutation_p.T878K|PCDH15_uc010qhu.1_Missense_Mutation_p.T871K|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T871K|PCDH15_uc010qhw.1_Missense_Mutation_p.T834K|PCDH15_uc010qhx.1_Missense_Mutation_p.T800K|PCDH15_uc010qhy.1_Missense_Mutation_p.T876K|PCDH15_uc010qhz.1_Missense_Mutation_p.T871K|PCDH15_uc010qia.1_Missense_Mutation_p.T849K|PCDH15_uc010qib.1_Missense_Mutation_p.T849K|PCDH15_uc001jjw.2_Missense_Mutation_p.T871K	p.T871K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			20	3007	-		Melanoma(3;0.117)|Lung SC(717;0.238)	871			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2612C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093713	0.94149	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	6.06	6.06	0.98353	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78477	0.4289	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.999;0.998;0.998;0.999;0.997;0.991;0.988;0.996;0.999;0.995;0.996;0.987;0.998	T	0.80448	-0.1378	9	0.87932	D	0	.	20.2348	0.98355	0.0:0.0:1.0:0.0	.	849;871;871;876;800;834;871;871;878;878;871;876;871;871	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	878;876;871;871;482;878;834;871;849;871;871;876;800;871	ENSP00000363076:T878K;ENSP00000410304:T876K;ENSP00000378826:T871K;ENSP00000386693:T482K;ENSP00000378832:T878K;ENSP00000378820:T834K;ENSP00000354950:T871K;ENSP00000378821:T849K;ENSP00000322604:T871K;ENSP00000378818:T871K;ENSP00000412628:T800K;ENSP00000363066:T871K	ENSP00000322604:T871K	T	-	2	0	PCDH15	55450097	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	8.950000	0.93019	2.880000	0.98712	0.650000	0.86243	ACA		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		29	81	1	0	1.08312e-15	0.009535	1.8924e-15	29	81				
PCDH15	65217	broad.mit.edu	37	10	55780158	55780158	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:55780158C>T	ENST00000320301.6	-	20	2939	c.2545G>A	c.(2545-2547)Gga>Aga	p.G849R	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G849R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G856R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G854R|PCDH15_ENST00000373955.1_Missense_Mutation_p.G849R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G849R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G460R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G827R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G812R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G778R|PCDH15_ENST00000373965.2_Missense_Mutation_p.G856R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G849R|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	849	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATTTGCTCCAAGGTCGACA	0.388										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2545-2547)GGA>AGA		protocadherin 15 isoform CD1-4 precursor							133.0	134.0	134.0					10																	55780158		2203	4298	6501	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55780158C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2545G>A	10.37:g.55780158C>T	ENSP00000322604:p.Gly849Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.G854R|PCDH15_uc010qhr.1_Missense_Mutation_p.G849R|PCDH15_uc010qhs.1_Missense_Mutation_p.G861R|PCDH15_uc010qht.1_Missense_Mutation_p.G856R|PCDH15_uc010qhu.1_Missense_Mutation_p.G849R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.G849R|PCDH15_uc010qhw.1_Missense_Mutation_p.G812R|PCDH15_uc010qhx.1_Missense_Mutation_p.G778R|PCDH15_uc010qhy.1_Missense_Mutation_p.G854R|PCDH15_uc010qhz.1_Missense_Mutation_p.G849R|PCDH15_uc010qia.1_Missense_Mutation_p.G827R|PCDH15_uc010qib.1_Missense_Mutation_p.G827R|PCDH15_uc001jjw.2_Missense_Mutation_p.G849R	p.G849R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			20	2940	-		Melanoma(3;0.117)|Lung SC(717;0.238)	849			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2545G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713708	0.68730	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.92	5.92	0.95590	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71492	0.3346	M	0.79258	2.445	0.43313	D	0.995322	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;0.996;0.996;0.996;1.0;0.966;0.992;0.996;0.985;0.985;0.958;0.996	D;D;D;D;D;D;D;P;D;D;P;P;P;D	0.97110	1.0;0.972;0.979;0.979;0.954;0.972;1.0;0.889;0.937;0.937;0.889;0.889;0.726;0.958	T	0.69548	-0.5116	9	0.44086	T	0.13	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	827;849;849;854;778;812;849;849;856;856;849;854;849;849	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	856;854;849;849;460;856;812;849;827;849;849;854;778;849	ENSP00000363076:G856R;ENSP00000410304:G854R;ENSP00000378826:G849R;ENSP00000386693:G460R;ENSP00000378832:G856R;ENSP00000378820:G812R;ENSP00000354950:G849R;ENSP00000378821:G827R;ENSP00000322604:G849R;ENSP00000378818:G849R;ENSP00000412628:G778R;ENSP00000363066:G849R	ENSP00000322604:G849R	G	-	1	0	PCDH15	55450164	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.084000	0.41625	2.794000	0.96219	0.650000	0.86243	GGA		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		17	81	0	0	0	0.006122	0	17	81				
UBE2D1	7321	broad.mit.edu	37	10	60124613	60124613	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:60124613C>G	ENST00000373910.4	+	5	508	c.281C>G	c.(280-282)tCa>tGa	p.S94*		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	94					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCACAATGGTCACCAGCTCTG	0.338																																							uc001jke.1		NA																	0				skin(2)	2						c.(280-282)TCA>TGA		ubiquitin-conjugating enzyme E2D 1							161.0	149.0	153.0					10																	60124613		2203	4300	6503	SO:0001587	stop_gained	7321				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr10:60124613C>G	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.281C>G	10.37:g.60124613C>G	ENSP00000363019:p.Ser94*						p.S94*	NM_003338	NP_003329	P51668	UB2D1_HUMAN			5	504	+			94					A6NLF6|A8K786	Nonsense_Mutation	SNP	ENST00000373910.4	37	c.281C>G	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	C	39	7.720651	0.98453	.	.	ENSG00000072401	ENST00000373910	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000363019:S94X	S	+	2	0	UBE2D1	59794619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.885000	0.99019	0.655000	0.94253	TCA		0.338	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338		8	34	0	0	0	0.006214	0	8	34				
BICC1	80114	broad.mit.edu	37	10	60549116	60549116	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:60549116C>T	ENST00000373886.3	+	7	699	c.695C>T	c.(694-696)tCa>tTa	p.S232L		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	232					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAGCATATATCACAAACGTAC	0.418																																							uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(694-696)TCA>TTA		bicaudal C homolog 1							145.0	137.0	140.0					10																	60549116		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60549116C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.695C>T	10.37:g.60549116C>T	ENSP00000362993:p.Ser232Leu						p.S232L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			7	695	+			232						Missense_Mutation	SNP	ENST00000373886.3	37	c.695C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083152	0.55861	.	.	ENSG00000122870	ENST00000373886	T	0.27402	1.67	5.66	5.66	0.87406	.	0.057418	0.64402	D	0.000001	T	0.26412	0.0645	L	0.40543	1.245	0.80722	D	1	P	0.35077	0.483	B	0.30401	0.115	T	0.02596	-1.1136	10	0.30078	T	0.28	-12.4971	16.7242	0.85417	0.0:0.8711:0.1289:0.0	.	232	Q9H694	BICC1_HUMAN	L	232	ENSP00000362993:S232L	ENSP00000362993:S232L	S	+	2	0	BICC1	60219122	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.721000	0.61951	2.665000	0.90641	0.655000	0.94253	TCA		0.418	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		10	51	0	0	0	0.006214	0	10	51				
ANK3	288	broad.mit.edu	37	10	61834532	61834532	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:61834532T>A	ENST00000280772.2	-	37	6298	c.6107A>T	c.(6106-6108)tAc>tTc	p.Y2036F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2036					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTTGTTAGGTAATCAATAAC	0.403																																							uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(6106-6108)TAC>TTC		ankyrin 3 isoform 1							97.0	95.0	95.0					10																	61834532		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834532T>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6107A>T	10.37:g.61834532T>A	ENSP00000280772:p.Tyr2036Phe					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.Y2036F	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	6299	-			2036					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6107A>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420700	0.42918	.	.	ENSG00000151150	ENST00000280772	T	0.57273	0.41	5.66	5.66	0.87406	.	0.000000	0.38272	N	0.001749	T	0.46580	0.1400	L	0.45581	1.43	0.80722	D	1	P	0.37636	0.603	B	0.33121	0.158	T	0.48328	-0.9045	10	0.46703	T	0.11	.	15.8862	0.79251	0.0:0.0:0.0:1.0	.	2036	Q12955	ANK3_HUMAN	F	2036	ENSP00000280772:Y2036F	ENSP00000280772:Y2036F	Y	-	2	0	ANK3	61504538	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.013000	0.64023	2.160000	0.67779	0.533000	0.62120	TAC		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		15	60	0	0	0	0.004007	0	15	60				
ANK3	288	broad.mit.edu	37	10	61846462	61846462	+	Missense_Mutation	SNP	T	T	C	rs142538212		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:61846462T>C	ENST00000280772.2	-	30	3912	c.3721A>G	c.(3721-3723)Aat>Gat	p.N1241D	ANK3_ENST00000503366.1_Missense_Mutation_p.N1242D|ANK3_ENST00000355288.2_Missense_Mutation_p.N375D|ANK3_ENST00000373827.2_Missense_Mutation_p.N1235D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1241	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGACGCAGATTGGGTGTAGTG	0.428																																							uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(3721-3723)AAT>GAT		ankyrin 3 isoform 1							141.0	131.0	135.0					10																	61846462		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61846462T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3721A>G	10.37:g.61846462T>C	ENSP00000280772:p.Asn1241Asp					ANK3_uc001jkw.2_Missense_Mutation_p.N375D|ANK3_uc009xpa.2_Missense_Mutation_p.N375D|ANK3_uc001jkx.2_Missense_Mutation_p.N419D|ANK3_uc010qih.1_Missense_Mutation_p.N1242D|ANK3_uc001jkz.3_Missense_Mutation_p.N1235D|ANK3_uc001jla.1_Missense_Mutation_p.N307D|ANK3_uc001jlb.1_Missense_Mutation_p.N759D	p.N1241D	NM_020987	NP_066267	Q12955	ANK3_HUMAN			30	3913	-			1241					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3721A>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975934	0.53720	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.63913	0.02;-0.06;0.65;-0.07	6.03	6.03	0.97812	.	0.153154	0.29892	N	0.010922	T	0.48021	0.1477	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;B	0.29037	0.021;0.231;0.049;0.041;0.094;0.016;0.016	B;B;B;B;B;B;B	0.25614	0.045;0.035;0.024;0.017;0.016;0.062;0.007	T	0.50558	-0.8814	10	0.72032	D	0.01	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1242;375;774;1235;1241;476;375	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	D	1241;1235;375;375;1242;1221;476;876;876;374;774	ENSP00000280772:N1241D;ENSP00000362933:N1235D;ENSP00000347436:N375D;ENSP00000425236:N1242D	ENSP00000280772:N1241D	N	-	1	0	ANK3	61516468	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	4.017000	0.57167	2.313000	0.78055	0.454000	0.30748	AAT		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		19	34	0	0	0	0.008871	0	19	34				
ZNF365	22891	broad.mit.edu	37	10	64148220	64148220	+	Missense_Mutation	SNP	G	G	A	rs547383793		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:64148220G>A	ENST00000395254.3	+	3	1089	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Missense_Mutation_p.R270Q|ZNF365_ENST00000410046.3_Missense_Mutation_p.R270Q	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGAAAGCCCGGCTCCAGGAC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		18357	0.001		0.0	False		,,,				2504	0.0						uc001jmc.2		NA																	0				ovary(1)|skin(1)	2						c.(808-810)CGG>CAG		zinc finger protein 365 isoform C							63.0	65.0	64.0					10																	64148220		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64148220G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.809G>A	10.37:g.64148220G>A	ENSP00000378674:p.Arg270Gln					ZNF365_uc001jly.3_Missense_Mutation_p.R285Q|ZNF365_uc001jmb.3_Missense_Mutation_p.R270Q|ZNF365_uc001jlz.3_Missense_Mutation_p.R270Q|ZNF365_uc001jma.3_RNA	p.R270Q	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN			3	1124	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Missense_Mutation	SNP	ENST00000395254.3	37	c.809G>A	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864989	0.91511	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.39997	1.05;1.05;1.05	5.67	5.67	0.87782	.	0.096415	0.44688	D	0.000429	T	0.61299	0.2336	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.975;0.99	P;P;P;P	0.54499	0.754;0.689;0.574;0.689	T	0.62224	-0.6899	10	0.49607	T	0.09	-7.6355	20.1421	0.98061	0.0:0.0:1.0:0.0	.	270;270;270;285	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	Q	270	ENSP00000378674:R270Q;ENSP00000378675:R270Q;ENSP00000387091:R270Q	ENSP00000378674:R270Q	R	+	2	0	ZNF365	63818226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.286000	0.72665	2.836000	0.97738	0.655000	0.94253	CGG		0.498	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		8	47	0	0	0	0.00308	0	8	47				
MYPN	84665	broad.mit.edu	37	10	69909816	69909816	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:69909816A>G	ENST00000358913.5	+	6	1753	c.1265A>G	c.(1264-1266)tAc>tGc	p.Y422C	MYPN_ENST00000354393.2_Missense_Mutation_p.Y147C|MYPN_ENST00000540630.1_Missense_Mutation_p.Y422C|MYPN_ENST00000373675.3_Missense_Mutation_p.Y422C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	422	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCCACCAATTACTTGCAGGGA	0.358																																							uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(1264-1266)TAC>TGC		myopalladin							123.0	121.0	122.0					10																	69909816		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69909816A>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1265A>G	10.37:g.69909816A>G	ENSP00000351790:p.Tyr422Cys					MYPN_uc001jnl.1_Missense_Mutation_p.Y422C|MYPN_uc001jnn.3_Missense_Mutation_p.Y147C|MYPN_uc001jno.3_Missense_Mutation_p.Y422C|MYPN_uc001jnp.1_Missense_Mutation_p.Y422C|MYPN_uc009xps.2_Missense_Mutation_p.Y422C|MYPN_uc009xpt.2_Missense_Mutation_p.Y422C|MYPN_uc010qit.1_Missense_Mutation_p.Y128C|MYPN_uc010qiu.1_RNA	p.Y422C	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			7	1450	+			422			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1265A>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365948	0.61513	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.63580	0.17;0.27;0.24;-0.05	5.53	5.53	0.82687	.	0.382188	0.27677	N	0.018305	T	0.77405	0.4125	M	0.65975	2.015	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.98;0.992;0.997	T	0.77286	-0.2644	9	.	.	.	.	15.9479	0.79806	1.0:0.0:0.0:0.0	.	422;422;147;422	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	C	147;147;422;422;422	ENSP00000346369:Y147C;ENSP00000351790:Y422C;ENSP00000441668:Y422C;ENSP00000362779:Y422C	.	Y	+	2	0	MYPN	69579822	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.179000	0.58290	2.225000	0.72522	0.482000	0.46254	TAC		0.358	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		6	45	0	0	0	0.001984	0	6	45				
MYPN	84665	broad.mit.edu	37	10	69948766	69948766	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:69948766G>A	ENST00000358913.5	+	13	3296	c.2808G>A	c.(2806-2808)gaG>gaA	p.E936E	MYPN_ENST00000354393.2_Silent_p.E661E|MYPN_ENST00000540630.1_Silent_p.E936E	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	936					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AACATGATGAGATCCCCACGG	0.433																																							uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(2806-2808)GAG>GAA		myopalladin							107.0	99.0	102.0					10																	69948766		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69948766G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2808G>A	10.37:g.69948766G>A						MYPN_uc001jnn.3_Silent_p.E661E|MYPN_uc001jno.3_Silent_p.E936E|MYPN_uc009xpt.2_Silent_p.E936E|MYPN_uc010qit.1_Silent_p.E642E|MYPN_uc010qiu.1_RNA	p.E936E	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			14	2993	+			936					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.2808G>A	CCDS7275.1																																																																																				0.433	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		15	36	0	0	0	0.00245	0	15	36				
TET1	80312	broad.mit.edu	37	10	70446225	70446225	+	Missense_Mutation	SNP	A	A	G	rs141820172	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:70446225A>G	ENST00000373644.4	+	11	5374	c.5165A>G	c.(5164-5166)aAg>aGg	p.K1722R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1722					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTGGCTCCAAGGAAGGAATG	0.498													A|||	2	0.000399361	0.0015	0.0	5008	,	,		16371	0.0		0.0	False		,,,				2504	0.0						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5164-5166)AAG>AGG		CXXC finger 6		A	ARG/LYS	2,4404	2.1+/-5.4	0,2,2201	75.0	77.0	76.0		5165	-3.2	0.2	10	dbSNP_134	76	0,8600		0,0,4300	no	missense	TET1	NM_030625.2	26	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign	1722/2137	70446225	2,13004	2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446225A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5165A>G	10.37:g.70446225A>G	ENSP00000362748:p.Lys1722Arg						p.K1722R	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			11	5670	+			1722					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5165A>G	CCDS7281.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	8.420	0.846064	0.16963	4.54E-4	0.0	ENSG00000138336	ENST00000373644	T	0.07114	3.22	5.45	-3.25	0.05079	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.960840	0.01573	N	0.020673	T	0.03011	0.0089	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33854	-0.9852	10	0.14252	T	0.57	.	1.486	0.02447	0.4459:0.235:0.1964:0.1226	.	1722	Q8NFU7	TET1_HUMAN	R	1722	ENSP00000362748:K1722R	ENSP00000362748:K1722R	K	+	2	0	TET1	70116231	0.000000	0.05858	0.227000	0.23927	0.895000	0.52256	-0.081000	0.11321	-0.390000	0.07774	0.392000	0.25879	AAG		0.498	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		28	93	0	0	0	0.004656	0	28	93				
ADAMTS14	140766	broad.mit.edu	37	10	72489072	72489072	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:72489072A>T	ENST00000373207.1	+	5	893	c.893A>T	c.(892-894)gAg>gTg	p.E298V	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E298V	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	298	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TACCACGATGAGTCCCTGGGG	0.483																																							uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(892-894)GAG>GTG		ADAM metallopeptidase with thrombospondin type 1							114.0	108.0	110.0					10																	72489072		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489072A>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.893A>T	10.37:g.72489072A>T	ENSP00000362303:p.Glu298Val					ADAMTS14_uc001jrg.2_Missense_Mutation_p.E298V|ADAMTS14_uc010qjl.1_RNA	p.E298V	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			5	893	+			298			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.893A>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268709	0.59540	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.86097	-2.07;-2.07	5.18	5.18	0.71444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.064042	0.64402	D	0.000012	D	0.83959	0.5367	N	0.16166	0.38	0.42004	D	0.990908	P;D	0.55172	0.599;0.97	P;P	0.59825	0.574;0.864	D	0.86766	0.1970	10	0.59425	D	0.04	.	14.8529	0.70313	1.0:0.0:0.0:0.0	.	298;298	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	V	298	ENSP00000362304:E298V;ENSP00000362303:E298V	ENSP00000362303:E298V	E	+	2	0	ADAMTS14	72159078	1.000000	0.71417	0.995000	0.50966	0.464000	0.32679	8.761000	0.91691	2.172000	0.68678	0.533000	0.62120	GAG		0.483	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		9	62	0	0	0	0.008291	0	9	62				
C10orf54	64115	broad.mit.edu	37	10	73511558	73511558	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:73511558G>A	ENST00000394957.3	-	6	823	c.765C>T	c.(763-765)ccC>ccT	p.P255P	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	255					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTTTGGCCTCGGGTATCCCCT	0.607																																							uc001jsd.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(763-765)CCC>CCT		platelet receptor Gi24 precursor							50.0	52.0	51.0					10																	73511558		2203	4300	6503	SO:0001819	synonymous_variant	64115					integral to membrane	receptor activity	g.chr10:73511558G>A	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.765C>T	10.37:g.73511558G>A						CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Silent_p.P123P|C10orf54_uc009xqm.2_Silent_p.P93P	p.P255P	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN			6	906	-			255			Cytoplasmic (Potential).		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	c.765C>T	CCDS31218.1																																																																																				0.607	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		14	37	0	0	0	0.001855	0	14	37				
PLA2G12B	84647	broad.mit.edu	37	10	74714288	74714288	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:74714288A>G	ENST00000373032.3	-	1	248	c.156T>C	c.(154-156)tcT>tcC	p.S52S		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	52					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GCTCCAGAAAAGAATCGAAGT	0.532																																							uc001jtf.1		NA																	0				ovary(1)	1						c.(154-156)TCT>TCC		phospholipase A2, group XIIB precursor							155.0	162.0	159.0					10																	74714288		2203	4300	6503	SO:0001819	synonymous_variant	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74714288A>G	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.156T>C	10.37:g.74714288A>G						PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Silent_p.S52S	p.S52S	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN			1	223	-	Prostate(51;0.0198)		52					B7ZL23|Q52LB2|Q96Q99	Silent	SNP	ENST00000373032.3	37	c.156T>C	CCDS7319.1																																																																																				0.532	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		34	196	0	0	0	0.003271	0	34	196				
CFAP70	118491	broad.mit.edu	37	10	75072269	75072269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:75072269C>A	ENST00000310715.3	-	11	1375	c.1255G>T	c.(1255-1257)Gaa>Taa	p.E419*	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Nonsense_Mutation_p.E419*|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Nonsense_Mutation_p.E419*	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		419						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATATCCTTTTCTTTCACTGGT	0.388																																							uc009xrc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1255-1257)GAA>TAA		tetratricopeptide repeat domain 18							174.0	168.0	170.0					10																	75072269		2203	4300	6503	SO:0001587	stop_gained	118491						binding	g.chr10:75072269C>A																												ENST00000310715.3:c.1255G>T	10.37:g.75072269C>A	ENSP00000310829:p.Glu419*					TTC18_uc001jty.2_Nonsense_Mutation_p.E419*|TTC18_uc009xrd.1_Nonsense_Mutation_p.E227*	p.E419*	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			11	1376	-	Prostate(51;0.0119)		419					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Nonsense_Mutation	SNP	ENST00000310715.3	37	c.1255G>T	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	35	5.438821	0.96168	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	.	.	.	4.94	4.94	0.65067	.	0.842110	0.10486	N	0.668990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-5.3375	14.026	0.64586	0.0:1.0:0.0:0.0	.	.	.	.	X	419	.	ENSP00000310829:E419X	E	-	1	0	TTC18	74742275	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	3.748000	0.55142	2.438000	0.82558	0.591000	0.81541	GAA		0.388	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	110	1	0	1.76689e-08	0.006214	2.52626e-08	9	110				
SH2D4B	387694	broad.mit.edu	37	10	82403816	82403816	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:82403816C>A	ENST00000470604.2	+	8	1271	c.1271C>A	c.(1270-1272)cCa>cAa	p.P424Q	SH2D4B_ENST00000313455.4_Silent_p.T303T|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000339284.2_Silent_p.T351T			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	424										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GACAGCCCACCAGACTACCAT	0.373																																							uc001kck.1		NA																	0					0						c.(1051-1053)ACC>ACA		SH2 domain containing 4B isoform 1							109.0	110.0	109.0					10																	82403816		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82403816C>A		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.1271C>A	10.37:g.82403816C>A	ENSP00000417953:p.Pro424Gln					SH2D4B_uc001kcl.1_Silent_p.T303T|SH2D4B_uc001kcm.1_Missense_Mutation_p.P172Q|SH2D4B_uc001kcn.1_RNA	p.T351T	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		7	1483	+			Error:Variant_position_missing_in_Q5SQS7_after_alignment					Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37	c.1053C>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.210363	0.79240	.	.	ENSG00000178217	ENST00000470604	T	0.38077	1.16	5.05	5.05	0.67936	.	0.075239	0.56097	D	0.000026	T	0.51227	0.1662	.	.	.	0.80722	D	1	D	0.54772	0.968	P	0.53450	0.726	T	0.55315	-0.8160	9	0.66056	D	0.02	-8.7538	16.2592	0.82532	0.0:1.0:0.0:0.0	.	424	Q5SQS7	SH24B_HUMAN	Q	424	ENSP00000417953:P424Q	ENSP00000417953:P424Q	P	+	2	0	SH2D4B	82393796	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.627000	0.67784	2.510000	0.84645	0.591000	0.81541	CCA		0.373	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		7	23	1	0	3.09899e-07	0.004482	4.18449e-07	7	23				
NRG3	10718	broad.mit.edu	37	10	84733613	84733613	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:84733613C>A	ENST00000404547.1	+	7	1354	c.1354C>A	c.(1354-1356)Cag>Aag	p.Q452K	NRG3_ENST00000404576.2_Missense_Mutation_p.Q256K|NRG3_ENST00000545131.1_Missense_Mutation_p.Q102K|NRG3_ENST00000372141.2_Missense_Mutation_p.Q452K|NRG3_ENST00000537893.1_Missense_Mutation_p.Q102K|NRG3_ENST00000372142.2_Missense_Mutation_p.Q231K|NRG3_ENST00000556918.1_Missense_Mutation_p.Q282K			P56975	NRG3_HUMAN	neuregulin 3	452					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGTCGGCCCCCAGTCATTCCC	0.502																																							uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(1354-1356)CAG>AAG		neuregulin 3 isoform 1							122.0	102.0	109.0					10																	84733613		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733613C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1354C>A	10.37:g.84733613C>A	ENSP00000384796:p.Gln452Lys					NRG3_uc010qlz.1_Missense_Mutation_p.Q451K|NRG3_uc001kcp.2_Missense_Mutation_p.Q231K|NRG3_uc001kcq.2_Missense_Mutation_p.Q102K|NRG3_uc001kcr.2_Missense_Mutation_p.Q102K	p.Q452K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	7	1381	+			452			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1354C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430986	0.62844	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.53206	1.51;1.49;1.49;0.63;0.63;0.63;0.63	6.06	6.06	0.98353	.	0.443143	0.20200	N	0.097101	T	0.43809	0.1264	L	0.36672	1.1	0.34025	D	0.653164	B;B;B;B	0.27068	0.167;0.07;0.167;0.167	B;B;B;B	0.28011	0.053;0.033;0.085;0.053	T	0.52245	-0.8601	10	0.48119	T	0.1	-18.0768	18.1336	0.89610	0.0:1.0:0.0:0.0	.	451;452;231;452	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	K	452;452;451;231;256;282;102;102	ENSP00000361214:Q452K;ENSP00000384796:Q452K;ENSP00000361215:Q231K;ENSP00000385804:Q256K;ENSP00000451376:Q282K;ENSP00000441201:Q102K;ENSP00000440377:Q102K	ENSP00000361214:Q452K	Q	+	1	0	NRG3	84723593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.029000	0.64121	2.880000	0.98712	0.650000	0.86243	CAG		0.502	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		18	37	1	0	2.35188e-11	0.006122	3.71235e-11	18	37				
NRG3	10718	broad.mit.edu	37	10	84744865	84744865	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:84744865G>A	ENST00000404547.1	+	10	1667	c.1667G>A	c.(1666-1668)aGt>aAt	p.S556N	NRG3_ENST00000404576.2_Missense_Mutation_p.S336N|NRG3_ENST00000545131.1_Missense_Mutation_p.S182N|NRG3_ENST00000372141.2_Missense_Mutation_p.S532N|NRG3_ENST00000537893.1_Missense_Mutation_p.S182N|NRG3_ENST00000372142.2_Missense_Mutation_p.S335N|NRG3_ENST00000556918.1_Missense_Mutation_p.S362N			P56975	NRG3_HUMAN	neuregulin 3	556					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TATTCATCCAGTGGTTTAAAA	0.403																																							uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(1594-1596)AGT>AAT		neuregulin 3 isoform 1							137.0	151.0	146.0					10																	84744865		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84744865G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1667G>A	10.37:g.84744865G>A	ENSP00000384796:p.Ser556Asn					NRG3_uc010qlz.1_Missense_Mutation_p.S531N|NRG3_uc001kcp.2_Missense_Mutation_p.S335N|NRG3_uc001kcq.2_Missense_Mutation_p.S182N|NRG3_uc001kcr.2_Missense_Mutation_p.S206N	p.S532N	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	1622	+			556			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1595G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	A	2.881	-0.231771	0.05983	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.55588	1.46;1.45;1.42;0.51;0.51;0.51;0.51	5.95	-11.9	0.00025	.	0.844442	0.10801	N	0.632704	T	0.24928	0.0605	N	0.10874	0.06	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.0;0.001;0.0;0.002	T	0.33007	-0.9885	10	0.17832	T	0.49	-43.3064	14.5139	0.67807	0.1713:0.2488:0.5799:0.0	.	531;556;335;532	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	N	532;556;531;335;336;362;182;182	ENSP00000361214:S532N;ENSP00000384796:S556N;ENSP00000361215:S335N;ENSP00000385804:S336N;ENSP00000451376:S362N;ENSP00000441201:S182N;ENSP00000440377:S182N	ENSP00000361214:S532N	S	+	2	0	NRG3	84734845	0.000000	0.05858	0.000000	0.03702	0.907000	0.53573	-3.152000	0.00581	-3.725000	0.00115	-0.269000	0.10298	AGT		0.403	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		34	183	0	0	0	0.010818	0	34	183				
PLCE1	51196	broad.mit.edu	37	10	96039631	96039631	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:96039631G>T	ENST00000371380.3	+	19	4993	c.4758G>T	c.(4756-4758)gaG>gaT	p.E1586D	PLCE1_ENST00000260766.3_Missense_Mutation_p.E1586D|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1278D|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1278D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1586					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGATGAGGAGGACGAATATG	0.428											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(4756-4758)GAG>GAT		phospholipase C, epsilon 1 isoform 1							104.0	103.0	104.0					10																	96039631		1922	4117	6039	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96039631G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4758G>T	10.37:g.96039631G>T	ENSP00000360431:p.Glu1586Asp		OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1317	PLCE1_uc010qnx.1_Missense_Mutation_p.E1570D|PLCE1_uc001kjm.2_Missense_Mutation_p.E1278D|uc001kjo.1_RNA	p.E1586D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			20	5392	+		Colorectal(252;0.0458)	1586					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.4758G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216172	0.58452	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25912	1.77;1.77;1.79;1.79	6.06	-1.99	0.07457	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	N	0.24115	0.695	0.32980	D	0.523455	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.80764	0.985;0.993;0.994	T	0.24977	-1.0145	10	0.18276	T	0.48	.	13.1782	0.59639	0.6204:0.0:0.3796:0.0	.	1570;1278;1586	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	1586;1586;1278;1278	ENSP00000260766:E1586D;ENSP00000360431:E1586D;ENSP00000360438:E1278D;ENSP00000360426:E1278D	ENSP00000260766:E1586D	E	+	3	2	PLCE1	96029621	0.989000	0.36119	0.980000	0.43619	0.946000	0.59487	0.228000	0.17814	-0.381000	0.07882	0.655000	0.94253	GAG		0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		16	32	1	0	2.48551e-13	0.00499	4.12633e-13	16	32				
DNTT	1791	broad.mit.edu	37	10	98097906	98097906	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:98097906C>A	ENST00000371174.2	+	11	1557	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	DNTT_ENST00000419175.1_Silent_p.L484L			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	485	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GGATATTCCTCAAAGCAGAAA	0.353																																							uc001kmf.2		NA																	0				ovary(1)	1						c.(1453-1455)CTC>CTA		terminal deoxynucleotidyltransferase isoform 1							117.0	114.0	115.0					10																	98097906		2203	4300	6503	SO:0001819	synonymous_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98097906C>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1455C>A	10.37:g.98097906C>A						DNTT_uc001kmg.2_Silent_p.L484L	p.L485L	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	11	1625	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	485			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Silent	SNP	ENST00000371174.2	37	c.1455C>A	CCDS7447.1																																																																																				0.353	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		7	23	1	0	0.00307968	0.00308	0.00336253	7	23				
SLC25A28	81894	broad.mit.edu	37	10	101371021	101371021	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:101371021C>A	ENST00000370495.4	-	4	708	c.680G>T	c.(679-681)aGc>aTc	p.S227I	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	227					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GGTGGTGTAGCTGCGGTAAAA	0.532																																							uc001kpx.2		NA																	0					0						c.(679-681)AGC>ATC		solute carrier family 25, member 28							67.0	70.0	69.0					10																	101371021		2033	4170	6203	SO:0001583	missense	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101371021C>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.680G>T	10.37:g.101371021C>A	ENSP00000359526:p.Ser227Ile					SLC25A28_uc001kpy.2_Missense_Mutation_p.S40I	p.S227I	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	809	-		Colorectal(252;0.234)	227			Solcar 2.|Helical; Name=4; (Potential).		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	c.680G>T	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622459	0.87460	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	T;T	0.78707	-1.2;-1.2	5.41	5.41	0.78517	Mitochondrial carrier domain (2);	0.036330	0.85682	D	0.000000	D	0.92844	0.7724	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94813	0.7980	10	0.87932	D	0	-10.6859	19.3785	0.94521	0.0:1.0:0.0:0.0	.	227	Q96A46	MFRN2_HUMAN	I	88;227	ENSP00000399102:S88I;ENSP00000359526:S227I	ENSP00000359526:S227I	S	-	2	0	SLC25A28	101361011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.815000	0.96918	0.561000	0.74099	AGC		0.532	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		16	36	1	0	2.23348e-06	0.004007	2.90285e-06	16	36				
DNMBP	23268	broad.mit.edu	37	10	101716779	101716779	+	Missense_Mutation	SNP	C	C	A	rs138795130		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:101716779C>A	ENST00000324109.4	-	4	543	c.452G>T	c.(451-453)cGg>cTg	p.R151L	DNMBP_ENST00000342239.3_Missense_Mutation_p.R151L|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	151	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CATTAGGGCCCGGGCTTGTCC	0.557																																							uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.(451-453)CGG>CTG		dynamin binding protein							42.0	45.0	44.0					10																	101716779		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716779C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.452G>T	10.37:g.101716779C>A	ENSP00000315659:p.Arg151Leu					NCRNA00093_uc001kqk.1_RNA	p.R151L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	544	-		Colorectal(252;0.234)	151			SH3 3.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.452G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778684	0.90195	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.32023	1.47;1.47	5.47	5.47	0.80525	Src homology-3 domain (3);	0.000000	0.47093	D	0.000258	T	0.54498	0.1862	M	0.70108	2.13	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.54173	-0.8333	10	0.56958	D	0.05	-23.9426	14.8761	0.70496	0.0:0.9293:0.0:0.0707	.	151	Q6XZF7	DNMBP_HUMAN	L	151	ENSP00000344914:R151L;ENSP00000315659:R151L	ENSP00000315659:R151L	R	-	2	0	DNMBP	101706769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.952000	0.70282	2.724000	0.93272	0.561000	0.74099	CGG		0.557	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		9	33	1	0	0.00448238	0.004482	0.00487215	9	33				
CPN1	1369	broad.mit.edu	37	10	101829578	101829578	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:101829578C>A	ENST00000370418.3	-	3	720	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	157	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTCAGGTCCACTCCATTTGCA	0.443																																							uc001kql.2		NA																	0				central_nervous_system(3)|pancreas(1)	4						c.(469-471)GTG>TTG		carboxypeptidase N, polypeptide 1 precursor							127.0	126.0	126.0					10																	101829578		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101829578C>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.469G>T	10.37:g.101829578C>A	ENSP00000359446:p.Val157Leu						p.V157L	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	3	729	-		Colorectal(252;0.234)	157			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.469G>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233590	0.39498	.	.	ENSG00000120054	ENST00000370418	T	0.04454	3.62	5.15	4.23	0.50019	Peptidase M14, carboxypeptidase A (3);	0.250090	0.39475	N	0.001346	T	0.06554	0.0168	L	0.47078	1.49	0.53005	D	0.999967	B	0.11235	0.004	B	0.16722	0.016	T	0.24621	-1.0155	10	0.37606	T	0.19	-6.2134	14.5541	0.68089	0.0:0.9253:0.0:0.0747	.	157	P15169	CBPN_HUMAN	L	157	ENSP00000359446:V157L	ENSP00000359446:V157L	V	-	1	0	CPN1	101819568	0.774000	0.28592	1.000000	0.80357	0.983000	0.72400	1.485000	0.35519	2.563000	0.86464	0.455000	0.32223	GTG		0.443	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		15	67	1	0	4.7546e-09	0.004007	6.98602e-09	15	67				
PAX2	5076	broad.mit.edu	37	10	102509555	102509555	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:102509555C>T	ENST00000428433.1	+	2	646	c.96C>T	c.(94-96)ccC>ccT	p.P32P	PAX2_ENST00000361791.3_Silent_p.P32P|PAX2_ENST00000556085.1_Silent_p.P31P|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Silent_p.P32P|PAX2_ENST00000370296.2_Silent_p.P32P	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	32	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		ACGGCCGGCCCCTACCCGACG	0.657																																							uc001krk.3		NA																	0					0						c.(94-96)CCC>CCT		paired box protein 2 isoform e							29.0	34.0	32.0					10																	102509555		2200	4296	6496	SO:0001819	synonymous_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509555C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.96C>T	10.37:g.102509555C>T						PAX2_uc001krl.3_Silent_p.P32P|PAX2_uc001krm.3_Silent_p.P32P|PAX2_uc001kro.3_Silent_p.P32P|PAX2_uc001krn.3_Silent_p.P32P|PAX2_uc010qps.1_Silent_p.P31P|PAX2_uc001krp.1_Silent_p.P36P	p.P32P	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	646	+		Colorectal(252;0.234)	32			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	c.96C>T	CCDS53569.1																																																																																				0.657	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				12	33	0	0	0	0.001368	0	12	33				
COL17A1	1308	broad.mit.edu	37	10	105798268	105798268	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:105798268A>T	ENST00000353479.5	-	45	3256	c.2966T>A	c.(2965-2967)aTg>aAg	p.M989K	COL17A1_ENST00000369733.3_Missense_Mutation_p.M944K	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	989	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGACACGTACATGGTACTTGA	0.592																																							uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2965-2967)ATG>AAG		alpha 1 type XVII collagen							60.0	66.0	64.0					10																	105798268		2202	4295	6497	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798268A>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2966T>A	10.37:g.105798268A>T	ENSP00000340937:p.Met989Lys						p.M989K	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	45	3135	-		Colorectal(252;0.103)|Breast(234;0.122)	989			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2966T>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	A	0.787	-0.760356	0.03019	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.90197	-1.62;-2.63	4.33	-6.26	0.02033	.	0.632230	0.14010	N	0.347538	T	0.73753	0.3627	N	0.17723	0.515	0.09310	N	0.999996	B	0.12013	0.005	B	0.12156	0.007	T	0.67067	-0.5764	10	0.02654	T	1	0.0064	6.3676	0.21463	0.2573:0.3353:0.4074:0.0	.	989	Q9UMD9	COHA1_HUMAN	K	989;944	ENSP00000340937:M989K;ENSP00000358748:M944K	ENSP00000340937:M989K	M	-	2	0	COL17A1	105788258	0.002000	0.14202	0.023000	0.16930	0.024000	0.10985	-0.285000	0.08410	-0.814000	0.04352	0.379000	0.24179	ATG		0.592	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		25	68	0	0	0	0.003954	0	25	68				
XPNPEP1	7511	broad.mit.edu	37	10	111639976	111639976	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:111639976G>T	ENST00000502935.1	-	12	1271	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L	XPNPEP1_ENST00000369680.4_Silent_p.L341L|XPNPEP1_ENST00000369683.1_Silent_p.L270L|XPNPEP1_ENST00000430337.1_5'Flank|XPNPEP1_ENST00000322238.8_Silent_p.L384L					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AGAGTTCACAGAGAGCAACAG	0.368																																							uc001kyp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1021-1023)CTC>CTA		X-prolyl aminopeptidase (aminopeptidase P) 1,							132.0	129.0	130.0					10																	111639976		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111639976G>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1152C>A	10.37:g.111639976G>T						XPNPEP1_uc009xxt.1_Silent_p.L384L|XPNPEP1_uc001kyq.1_Silent_p.L270L|XPNPEP1_uc010qrb.1_Silent_p.L384L|XPNPEP1_uc010qra.1_Silent_p.L108L	p.L341L	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	12	1163	-		Breast(234;0.174)	341						Silent	SNP	ENST00000502935.1	37	c.1023C>A	CCDS7560.2																																																																																				0.368	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			10	54	1	0	2.68362e-12	0.001368	4.34905e-12	10	54				
ATRNL1	26033	broad.mit.edu	37	10	117027883	117027883	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:117027883G>T	ENST00000355044.3	+	13	2188	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	688	PSI 2.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATGGTGTGATGACAAGAAATG	0.408																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2062-2064)GAC>TAC		attractin-like 1 precursor							237.0	223.0	228.0					10																	117027883		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117027883G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2062G>T	10.37:g.117027883G>T	ENSP00000347152:p.Asp688Tyr						p.D688Y	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	13	2448	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	688			PSI 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2062G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729587	0.69074	.	.	ENSG00000107518	ENST00000355044	T	0.14640	2.49	5.52	5.52	0.82312	.	0.174571	0.64402	D	0.000009	T	0.34308	0.0893	M	0.70275	2.135	0.80722	D	1	D	0.61080	0.989	P	0.57283	0.817	T	0.01287	-1.1395	10	0.48119	T	0.1	-12.3691	19.7978	0.96492	0.0:0.0:1.0:0.0	.	688	Q5VV63	ATRN1_HUMAN	Y	688	ENSP00000347152:D688Y	ENSP00000347152:D688Y	D	+	1	0	ATRNL1	117017873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.989000	0.70587	2.752000	0.94435	0.585000	0.79938	GAC		0.408	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		9	40	1	0	0.000274275	0.004482	0.000314197	9	40				
GFRA1	2674	broad.mit.edu	37	10	118030335	118030335	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:118030335C>A	ENST00000355422.6	-	3	883	c.333G>T	c.(331-333)caG>caT	p.Q111H	GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000369236.1_Splice_Site_p.Q111H|GFRA1_ENST00000439649.3_Splice_Site_p.Q111H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	111					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACGCGTACCCTGCAGGCTCT	0.612																																					Ovarian(128;329 1725 45498 46808 50759)	Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(331-333)CAG>CAT		GDNF family receptor alpha 1 isoform a							66.0	68.0	67.0					10																	118030335		2203	4300	6503	SO:0001630	splice_region_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030335C>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.334+1G>T	10.37:g.118030335C>A						GFRA1_uc001lci.2_Missense_Mutation_p.Q111H|GFRA1_uc009xyr.2_Missense_Mutation_p.Q111H	p.Q111H	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	1031	-		Lung NSC(174;0.21)	111			1.		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.333G>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367628	0.61513	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.32753	1.45;1.45;1.44;1.44	4.55	4.55	0.56014	GDNF/GAS1 (1);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.964	T	0.34477	-0.9827	10	0.09590	T	0.72	-6.9538	10.9752	0.47461	0.0:0.9133:0.0:0.0867	.	111;111	P56159;P56159-2	GFRA1_HUMAN;.	H	111	ENSP00000393725:Q111H;ENSP00000358239:Q111H;ENSP00000347591:Q111H;ENSP00000358237:Q111H	ENSP00000347591:Q111H	Q	-	3	2	GFRA1	118020325	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.402000	0.44521	2.085000	0.62840	0.555000	0.69702	CAG		0.612	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793	Missense_Mutation	6	42	1	0	0.00198382	0.001984	0.00217721	6	42				
CCDC172	374355	broad.mit.edu	37	10	118101646	118101646	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:118101646T>C	ENST00000333254.3	+	5	632	c.381T>C	c.(379-381)ctT>ctC	p.L127L	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	127																	AAAGAGAGCTTTTGATGAAAG	0.289																																							uc001lck.2		NA																	0				ovary(2)	2						c.(379-381)CTT>CTC		hypothetical protein LOC374355							42.0	46.0	44.0					10																	118101646		2193	4256	6449	SO:0001819	synonymous_variant	374355							g.chr10:118101646T>C	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.381T>C	10.37:g.118101646T>C							p.L127L	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	5	632	+		Lung NSC(174;0.204)|all_lung(145;0.248)	127			Potential.			Silent	SNP	ENST00000333254.3	37	c.381T>C	CCDS31291.1																																																																																				0.289	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		12	30	0	0	0	0.010729	0	12	30				
PPAPDC1A	196051	broad.mit.edu	37	10	122280557	122280557	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:122280557C>A	ENST00000398250.1	+	5	747	c.395C>A	c.(394-396)cCc>cAc	p.P132H	PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P122H|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.P132H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	132					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ACAGGTGACCCCGATCTGGTG	0.512																																							uc001lev.1		NA																	0				breast(1)	1						c.(394-396)CCC>CAC		phosphatidic acid phosphatase type 2 domain							79.0	80.0	80.0					10																	122280557		1909	4125	6034	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280557C>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.395C>A	10.37:g.122280557C>A	ENSP00000381302:p.Pro132His					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.P132H|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.P11H	p.P132H	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	747	+		Lung NSC(174;0.1)|all_lung(145;0.132)	132					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.395C>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651665	0.88056	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.096296	0.64402	D	0.000001	D	0.84969	0.5590	L	0.52011	1.625	0.80722	D	1	D;B	0.67145	0.996;0.155	D;B	0.67231	0.95;0.1	T	0.81906	-0.0718	10	0.32370	T	0.25	-14.6257	19.9598	0.97242	0.0:1.0:0.0:0.0	.	132;132	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	H	132;132;132;122	ENSP00000381302:P132H;ENSP00000407979:P132H;ENSP00000440493:P132H;ENSP00000358069:P122H	ENSP00000358069:P122H	P	+	2	0	PPAPDC1A	122270547	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	5.666000	0.68059	2.716000	0.92895	0.655000	0.94253	CCC		0.512	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		14	42	1	0	4.7546e-09	0.004007	6.98602e-09	14	42				
PPAPDC1A	196051	broad.mit.edu	37	10	122334710	122334710	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:122334710T>A	ENST00000398250.1	+	6	865	c.513T>A	c.(511-513)agT>agA	p.S171R	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.S108R|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S161R|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.S171R	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	171					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TCACCGAGAGTGGGCGGGGAA	0.582																																							uc001lev.1		NA																	0				breast(1)	1						c.(511-513)AGT>AGA		phosphatidic acid phosphatase type 2 domain							99.0	102.0	101.0					10																	122334710		2115	4248	6363	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334710T>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.513T>A	10.37:g.122334710T>A	ENSP00000381302:p.Ser171Arg					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.S171R|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.S108R|PPAPDC1A_uc001lew.1_Missense_Mutation_p.V78E|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.S50R	p.S171R	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	865	+		Lung NSC(174;0.1)|all_lung(145;0.132)	171					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.513T>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	T	4.103	0.017254	0.07959	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.46063	0.88;0.89;0.91;0.9	5.52	-7.52	0.01341	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.317301	0.40385	N	0.001106	T	0.09069	0.0224	N	0.00630	-1.315	0.24654	N	0.993504	B;B;B	0.27853	0.0;0.191;0.0	B;B;B	0.23419	0.01;0.046;0.004	T	0.35500	-0.9786	10	0.10377	T	0.69	-27.4129	11.7897	0.52063	0.0877:0.5566:0.0:0.3557	.	171;108;171	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	R	108;171;171;171;161	ENSP00000381302:S171R;ENSP00000407979:S171R;ENSP00000440493:S171R;ENSP00000358069:S161R	ENSP00000358069:S161R	S	+	3	2	PPAPDC1A	122324700	0.002000	0.14202	0.909000	0.35828	0.995000	0.86356	-1.335000	0.02662	-1.352000	0.02194	-0.408000	0.06270	AGT		0.582	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		10	62	0	0	0	0.008291	0	10	62				
TACC2	10579	broad.mit.edu	37	10	123970198	123970198	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:123970198G>T	ENST00000369005.1	+	9	6598	c.6258G>T	c.(6256-6258)tcG>tcT	p.S2086S	TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Silent_p.S2090S|TACC2_ENST00000358010.1_Silent_p.S232S|TACC2_ENST00000360561.3_Silent_p.S164S|TACC2_ENST00000334433.3_Silent_p.S2086S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Silent_p.S164S|TACC2_ENST00000260733.3_Silent_p.S164S|TACC2_ENST00000453444.2_Silent_p.S2090S|TACC2_ENST00000369004.3_Silent_p.S164S|TACC2_ENST00000513429.1_Silent_p.S232S|TACC2_ENST00000515603.1_Silent_p.S2041S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2086					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGTCCCGGTCGCTCAGCCTGC	0.577																																							uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(6256-6258)TCG>TCT		transforming, acidic coiled-coil containing							70.0	72.0	71.0					10																	123970198		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970198G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6258G>T	10.37:g.123970198G>T						TACC2_uc001lfw.2_Silent_p.S232S|TACC2_uc009xzx.2_Silent_p.S2041S|TACC2_uc010qtv.1_Silent_p.S2090S|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.S164S|TACC2_uc001lga.2_Silent_p.S164S|TACC2_uc009xzy.2_Silent_p.S164S|TACC2_uc001lgb.2_Silent_p.S121S|TACC2_uc010qtw.1_Silent_p.S181S	p.S2086S	NM_206862	NP_996744	O95359	TACC2_HUMAN			9	6618	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2086					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.6258G>T	CCDS7626.1																																																																																				0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			9	38	1	0	7.48243e-07	0.006214	9.9376e-07	9	38				
IKZF5	64376	broad.mit.edu	37	10	124753508	124753508	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:124753508T>G	ENST00000368886.5	-	5	1368	c.1048A>C	c.(1048-1050)Acc>Ccc	p.T350P	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	350					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)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGGGCTGGGGTGCTTGGCTGG	0.547																																							uc001lha.2		NA																	0					0						c.(1048-1050)ACC>CCC		zinc finger protein, subfamily 1A, 5							52.0	61.0	58.0					10																	124753508		2081	4225	6306	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124753508T>G	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.1048A>C	10.37:g.124753508T>G	ENSP00000357881:p.Thr350Pro					IKZF5_uc001lgz.2_Missense_Mutation_p.T188P	p.T350P	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	1347	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	350					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.1048A>C	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299879	0.81136	.	.	ENSG00000095574	ENST00000368886	T	0.05855	3.38	6.03	6.03	0.97812	.	0.043122	0.85682	N	0.000000	T	0.18964	0.0455	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.00168	-1.1963	10	0.44086	T	0.13	-16.6324	16.5582	0.84512	0.0:0.0:0.0:1.0	.	350	Q9H5V7	IKZF5_HUMAN	P	350	ENSP00000357881:T350P	ENSP00000357881:T350P	T	-	1	0	IKZF5	124743498	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.451000	0.80668	2.308000	0.77769	0.533000	0.62120	ACC		0.547	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		9	49	0	0	0	0.00499	0	9	49				
FANK1	92565	broad.mit.edu	37	10	127693614	127693614	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:127693614G>C	ENST00000368693.1	+	7	805	c.701G>C	c.(700-702)tGt>tCt	p.C234S	FANK1_ENST00000368695.1_Missense_Mutation_p.C228S|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	234						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAGGATGGCTGTGAGGTACGG	0.532																																							uc001ljh.3		NA																	0				ovary(1)	1						c.(700-702)TGT>TCT		fibronectin type III and ankyrin repeat domains							166.0	149.0	155.0					10																	127693614		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127693614G>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.701G>C	10.37:g.127693614G>C	ENSP00000357682:p.Cys234Ser					FANK1_uc009yan.2_Missense_Mutation_p.C260S|FANK1_uc001lji.2_Missense_Mutation_p.C228S	p.C234S	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			7	805	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	234			ANK 4.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.701G>C	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.322328|4.322328	0.81580|0.81580	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692|ENST00000456942	T;T;T|.	0.63255|.	-0.03;-0.03;0.09|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58323|0.58323	0.2114|0.2114	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;0.996;1.0|.	D;D;D|.	0.87578|.	0.99;0.99;0.998|.	T|T	0.52388|0.52388	-0.8582|-0.8582	10|5	0.51188|.	T|.	0.08|.	-19.6825|-19.6825	18.3708|18.3708	0.90406|0.90406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	260;234;234|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	S|L	228;234;212;260|129	ENSP00000357684:C228S;ENSP00000357682:C234S;ENSP00000357680:C212S|.	ENSP00000357680:C212S|.	C|V	+|+	2|1	0|0	FANK1|FANK1	127683604|127683604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.447000|6.447000	0.73465|0.73465	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.532	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		12	63	0	0	0	0.010729	0	12	63				
DOCK1	1793	broad.mit.edu	37	10	129207637	129207637	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:129207637T>G	ENST00000280333.6	+	42	4371	c.4262T>G	c.(4261-4263)gTg>gGg	p.V1421G		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1421	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CACAGGCCAGTGTCAGAGCAG	0.443																																							uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(4261-4263)GTG>GGG		dedicator of cytokinesis 1							127.0	122.0	123.0					10																	129207637		1945	4157	6102	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129207637T>G	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4262T>G	10.37:g.129207637T>G	ENSP00000280333:p.Val1421Gly					DOCK1_uc010qun.1_Missense_Mutation_p.V1442G|DOCK1_uc009yaq.2_Missense_Mutation_p.V416G	p.V1421G	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	42	4326	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1421			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4262T>G		.	.	.	.	.	.	.	.	.	.	T	19.55	3.848652	0.71603	.	.	ENSG00000150760	ENST00000280333	T	0.05513	3.43	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.976;0.979	T	0.42965	-0.9420	10	0.87932	D	0	.	15.0876	0.72167	0.0:0.0:0.0:1.0	.	1421;1487;1421	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	G	1421	ENSP00000280333:V1421G	ENSP00000280333:V1421G	V	+	2	0	DOCK1	129097627	1.000000	0.71417	0.941000	0.38009	0.750000	0.42670	7.461000	0.80834	2.145000	0.66743	0.533000	0.62120	GTG		0.443	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		14	49	0	0	0	0.00499	0	14	49				
JAKMIP3	282973	broad.mit.edu	37	10	133930790	133930790	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:133930790G>T	ENST00000298622.4	+	2	483	c.345G>T	c.(343-345)cgG>cgT	p.R115R		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	115						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGAACCAGCGGCTGCAGGCAC	0.612																																							uc001lkx.3		NA																	0				breast(1)	1						c.(343-345)CGG>CGT		Janus kinase and microtubule interacting protein							56.0	71.0	66.0					10																	133930790		2179	4265	6444	SO:0001819	synonymous_variant	282973							g.chr10:133930790G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.345G>T	10.37:g.133930790G>T							p.R115R	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	345	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.345G>T	CCDS44494.1																																																																																				0.612	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		11	50	1	0	4.68919e-08	0.008291	6.60997e-08	11	50				
Unknown	0	broad.mit.edu	37	10	135491123	135491123	+	IGR	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr10:135491123G>A								AL845259.1 (17944 upstream) : None (None downstream)																							GCCCACACCGGCGCGTGGGGA	0.786																																							uc010qvi.1		NA																	0					0						c.(733-735)GGC>GAC		double homeobox, 4-like							12.0	12.0	12.0					10																	135491123		1087	2139	3226	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491123G>A																													10.37:g.135491123G>A							p.G245D	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	845	+			245						Missense_Mutation	SNP		37	c.734G>A																																																																																				0	0.786									4	15	0	0	0	0.004482	0	4	15				
MUC5B	727897	broad.mit.edu	37	11	1257599	1257599	+	Intron	SNP	G	G	T	rs371116616		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:1257599G>T	ENST00000529681.1	+	24	2938				MUC5B_ENST00000447027.1_Intron	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTCCGGCAGCGTCTGCCTCCC	0.672																																							uc009ycr.1		NA																	0					0						c.(4942-4944)CGT>CTT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							19.0	23.0	22.0					11																	1257599		1911	4116	6027	SO:0001627	intron_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1257599G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2881-17G>T	11.37:g.1257599G>T						MUC5B_uc009yct.1_Intron|MUC5B_uc001ltb.2_Intron|MUC5B_uc001lta.2_Intron	p.R1648L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	40	5069	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4943G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	4.446	0.082630	0.08533	.	.	ENSG00000117983	ENST00000406844	.	.	.	3.73	0.663	0.17885	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.17722	0.019	T	0.19943	-1.0290	7	0.35671	T	0.21	.	8.7517	0.34620	0.0:0.3317:0.5688:0.0995	.	1648	A7Y9J9	.	L	1025	.	ENSP00000384815:R1025L	R	+	2	0	MUC5B	1214175	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.994000	0.01474	-0.478000	0.06823	-2.178000	0.00318	CGT		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	16	1	0	0.00909568	0.009096	0.00964006	4	16				
INS	3630	broad.mit.edu	37	11	2181169	2181169	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:2181169C>A	ENST00000397262.1	-	2	478	c.246G>T	c.(244-246)ctG>ctT	p.L82L	INS-IGF2_ENST00000397270.1_Intron|INS_ENST00000250971.3_Silent_p.L82L|INS_ENST00000512523.1_Silent_p.L70L|INS_ENST00000381330.4_Silent_p.L82L|INS-IGF2_ENST00000481781.1_5'Flank	NM_001185098.1	NP_001172027.1	P01308	INS_HUMAN	insulin	82					activation of protein kinase B activity (GO:0032148)|acute-phase response (GO:0006953)|alpha-beta T cell activation (GO:0046631)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of fatty acid metabolic process (GO:0045922)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of glycogen catabolic process (GO:0045818)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of protein secretion (GO:0050709)|negative regulation of proteolysis (GO:0045861)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|negative regulation of vasodilation (GO:0045908)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of respiratory burst (GO:0060267)|positive regulation of vasodilation (GO:0045909)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of insulin secretion (GO:0050796)|regulation of protein localization (GO:0032880)|regulation of protein secretion (GO:0050708)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transmembrane transporter activity (GO:0022898)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	endoplasmic reticulum lumen (GO:0005788)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)|identical protein binding (GO:0042802)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protease binding (GO:0002020)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)		GGGACCCCTCCAGGGCCAAGG	0.662																																							uc001lvn.1		NA																	0					0						c.(244-246)CTG>CTT		proinsulin precursor							40.0	35.0	37.0					11																	2181169		2182	4289	6471	SO:0001819	synonymous_variant	3630				activation of protein kinase B activity|acute-phase response|alpha-beta T cell activation|endocrine pancreas development|energy reserve metabolic process|fatty acid homeostasis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|glucose metabolic process|glucose transport|insulin receptor signaling pathway|MAPKKK cascade|negative regulation of acute inflammatory response|negative regulation of apoptosis|negative regulation of fatty acid metabolic process|negative regulation of feeding behavior|negative regulation of gluconeogenesis|negative regulation of glycogen catabolic process|negative regulation of lipid catabolic process|negative regulation of NAD(P)H oxidase activity|negative regulation of protein catabolic process|negative regulation of protein secretion|negative regulation of proteolysis|negative regulation of respiratory burst involved in inflammatory response|negative regulation of vasodilation|positive regulation of cell differentiation|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine secretion|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin receptor signaling pathway|positive regulation of lipid biosynthetic process|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of respiratory burst|positive regulation of vasodilation|regulation of cellular amino acid metabolic process|regulation of insulin secretion|regulation of transmembrane transporter activity|wound healing	endoplasmic reticulum lumen|endosome lumen|extracellular space	hormone activity|insulin receptor binding|insulin-like growth factor receptor binding	g.chr11:2181169C>A	X70508	CCDS7729.1	11p15.5	2014-02-03			ENSG00000254647	ENSG00000254647			6081	protein-coding gene	gene with protein product		176730	"""insulin-dependent diabetes mellitus 2"""	IDDM2, IDDM1		6243748, 7773291	Standard	NM_000207		Approved			P01308	OTTHUMG00000009558	ENST00000397262.1:c.246G>T	11.37:g.2181169C>A						INS-IGF2_uc001lvi.2_Intron|INS-IGF2_uc001lvm.2_Intron|INS_uc001lvo.1_Silent_p.L82L|INS_uc009ydg.1_Silent_p.L70L	p.L82L	NM_000207	NP_000198	P01308	INS_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)	3	301	-		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	82					Q5EEX2	Silent	SNP	ENST00000397262.1	37	c.246G>T	CCDS7729.1																																																																																				0.662	INS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026395.3	NM_000207		3	8	1	0	6.4e-05	0.004672	7.65288e-05	3	8				
RRM1	6240	broad.mit.edu	37	11	4133143	4133143	+	Silent	SNP	A	A	T	rs12807843		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:4133143A>T	ENST00000300738.5	+	7	705	c.501A>T	c.(499-501)ccA>ccT	p.P167P	RRM1_ENST00000423050.2_Silent_p.P70P	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	167					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTGAAAGACCACAACATATGT	0.373																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	uc001lyw.3		NA																	0				skin(1)	1						c.(499-501)CCA>CCT		ribonucleoside-diphosphate reductase M1 chain	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						90.0	91.0	90.0					11																	4133143		2201	4298	6499	SO:0001819	synonymous_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4133143A>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.501A>T	11.37:g.4133143A>T						RRM1_uc009yeh.1_Silent_p.P70P|RRM1_uc009yei.2_Silent_p.P127P|RRM1_uc010qyc.1_Silent_p.P70P	p.P167P	NM_001033	NP_001024	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	7	820	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	167					Q9UNN2	Silent	SNP	ENST00000300738.5	37	c.501A>T	CCDS7750.1																																																																																				0.373	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		3	13	0	0	0	0.009096	0	3	13				
OR52M1	119772	broad.mit.edu	37	11	4566790	4566790	+	Missense_Mutation	SNP	C	C	G	rs61751908		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:4566790C>G	ENST00000360213.1	+	1	370	c.370C>G	c.(370-372)Cgc>Ggc	p.R124G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGATCGCTACGTGGC	0.527																																							uc010qyf.1		NA																	0					0						c.(370-372)CGC>GGC		olfactory receptor, family 52, subfamily M,							144.0	125.0	132.0					11																	4566790		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566790C>G	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.370C>G	11.37:g.4566790C>G	ENSP00000353343:p.Arg124Gly						p.R124G	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	370	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	124			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.370C>G	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720501	0.68959	.	.	ENSG00000197790	ENST00000360213	T	0.77620	-1.11	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000192	D	0.90998	0.7169	H	0.99197	4.465	0.38952	D	0.958366	D	0.54397	0.966	P	0.51657	0.676	D	0.95178	0.8296	10	0.87932	D	0	.	17.3425	0.87301	0.0:1.0:0.0:0.0	.	124	Q8NGK5	O52M1_HUMAN	G	124	ENSP00000353343:R124G	ENSP00000353343:R124G	R	+	1	0	OR52M1	4523366	0.020000	0.18652	0.995000	0.50966	0.787000	0.44495	0.464000	0.21988	2.756000	0.94617	0.650000	0.86243	CGC		0.527	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		15	28	0	0	0	0.00245	0	15	28				
OR52R1	119695	broad.mit.edu	37	11	4825302	4825302	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:4825302C>A	ENST00000356069.2	-	1	308	c.309G>T	c.(307-309)caG>caT	p.Q103H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.Q182H	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAAGAACACCTGGATGAGGC	0.522																																							uc010qym.1		NA																	0				skin(1)	1						c.(544-546)CAG>CAT		olfactory receptor, family 52, subfamily R,							153.0	138.0	143.0					11																	4825302		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825302C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.309G>T	11.37:g.4825302C>A	ENSP00000348368:p.Gln103His						p.Q182H	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	546	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	103			Helical; Name=3; (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.546G>T	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075899	0.55646	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00472	7.19;7.19	5.42	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000253	T	0.02533	0.0077	H	0.97540	4.025	0.36136	D	0.846449	D	0.89917	1.0	D	0.87578	0.998	T	0.06409	-1.0828	10	0.72032	D	0.01	.	10.9618	0.47389	0.0:0.848:0.0:0.152	.	103	Q8NGF1	O52R1_HUMAN	H	103;182	ENSP00000348368:Q103H;ENSP00000369742:Q182H	ENSP00000348368:Q103H	Q	-	3	2	OR52R1	4781878	0.987000	0.35691	1.000000	0.80357	0.975000	0.68041	1.872000	0.39549	0.869000	0.35703	-0.142000	0.14014	CAG		0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		18	33	1	0	1.33834e-09	0.007413	1.99227e-09	18	33				
OR51A4	401666	broad.mit.edu	37	11	4968004	4968004	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:4968004G>A	ENST00000380373.2	-	1	352	c.327C>T	c.(325-327)ttC>ttT	p.F109F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTACTGAGAATCCATGAA	0.448																																							uc010qys.1		NA																	0				ovary(2)|skin(1)	3						c.(325-327)TTC>TTT		olfactory receptor, family 51, subfamily A,							158.0	157.0	157.0					11																	4968004		2190	4290	6480	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4968004G>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.327C>T	11.37:g.4968004G>A							p.F109F	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	327	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	109			Helical; Name=3; (Potential).			Silent	SNP	ENST00000380373.2	37	c.327C>T	CCDS31367.1																																																																																				0.448	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		13	125	0	0	0	0.004007	0	13	125				
OR51A4	401666	broad.mit.edu	37	11	4968029	4968029	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:4968029G>C	ENST00000380373.2	-	1	327	c.302C>G	c.(301-303)gCc>gGc	p.A101G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATTCCTGGGCAAAGCAGGC	0.443																																							uc010qys.1		NA																	0				ovary(2)|skin(1)	3						c.(301-303)GCC>GGC		olfactory receptor, family 51, subfamily A,							168.0	161.0	163.0					11																	4968029		2181	4278	6459	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4968029G>C	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.302C>G	11.37:g.4968029G>C	ENSP00000369731:p.Ala101Gly						p.A101G	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	302	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	101			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380373.2	37	c.302C>G	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697882	0.48307	.	.	ENSG00000205497	ENST00000380373	T	0.03035	4.07	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17916	0.0430	M	0.90759	3.145	0.09310	N	1	D	0.67145	0.996	D	0.70016	0.967	T	0.08493	-1.0719	9	0.49607	T	0.09	.	5.7292	0.18030	0.2244:0.0:0.7756:0.0	.	101	Q8NGJ6	O51A4_HUMAN	G	101	ENSP00000369731:A101G	ENSP00000369731:A101G	A	-	2	0	OR51A4	4924605	0.000000	0.05858	0.970000	0.41538	0.990000	0.78478	0.855000	0.27805	2.000000	0.58554	0.580000	0.79431	GCC		0.443	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		11	92	0	0	0	0.001855	0	11	92				
MMP26	56547	broad.mit.edu	37	11	5010967	5010967	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:5010967G>A	ENST00000380390.1	+	3	405	c.189G>A	c.(187-189)cgG>cgA	p.R63R	MMP26_ENST00000300762.1_Silent_p.R63R|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	63					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	AATTCCATCGGAATGGGACAG	0.522																																							uc001lzv.2		NA																	0					0						c.(187-189)CGG>CGA		matrix metalloproteinase 26 preproprotein							81.0	64.0	69.0					11																	5010967		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5010967G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.189G>A	11.37:g.5010967G>A							p.R63R	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	207	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	63					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.189G>A	CCDS7752.1																																																																																				0.522	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		7	15	0	0	0	0.00308	0	7	15				
OR51V1	283111	broad.mit.edu	37	11	5221672	5221672	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:5221672C>G	ENST00000321255.1	-	1	258	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	87					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTGTACACAGTGGACAGC	0.532																																							uc010qyz.1		NA																	0				skin(1)	1						c.(259-261)GTG>CTG		olfactory receptor, family 51, subfamily V,							86.0	74.0	78.0					11																	5221672		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221672C>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.259G>C	11.37:g.5221672C>G	ENSP00000321729:p.Val87Leu						p.V87L	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	259	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	87			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.259G>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	0.122	-1.124613	0.01770	.	.	ENSG00000176742	ENST00000321255	T	0.04454	3.62	5.48	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.404577	0.18117	N	0.151176	T	0.03959	0.0111	N	0.17345	0.48	0.09310	N	1	P	0.38535	0.635	P	0.49477	0.612	T	0.28554	-1.0040	10	0.02654	T	1	.	4.9405	0.13963	0.0:0.4613:0.1446:0.3941	.	87	Q9H2C8	O51V1_HUMAN	L	87	ENSP00000321729:V87L	ENSP00000321729:V87L	V	-	1	0	OR51V1	5178248	0.000000	0.05858	0.126000	0.21872	0.099000	0.18886	-2.866000	0.00723	0.150000	0.19136	-0.142000	0.14014	GTG		0.532	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		14	28	0	0	0	0.003163	0	14	28				
HBD	3045	broad.mit.edu	37	11	5255238	5255238	+	Missense_Mutation	SNP	C	C	A	rs35329985		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:5255238C>A	ENST00000380299.3	-	2	512	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	HBD_ENST00000292901.3_Missense_Mutation_p.D100Y	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	100			D -> N (in Canada; O(2) affinity up; dbSNP:rs35329985). {ECO:0000269|PubMed:7129931}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCAGGATCCACGTGCAGC	0.478																																							uc001maf.1		NA																	0				ovary(1)	1	GRCh37	CM820009	HBD	M	rs35329985	c.(298-300)GAT>TAT		delta globin							107.0	92.0	97.0					11																	5255238		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255238C>A	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.298G>T	11.37:g.5255238C>A	ENSP00000369654:p.Asp100Tyr						p.D100Y	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	493	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	100					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.298G>T	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683858	0.68157	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.95137	-3.37;-3.62;-3.37	4.42	3.5	0.40072	Globin-like (1);Globin, structural domain (1);	0.141885	0.64402	D	0.000009	D	0.98061	0.9361	H	0.97707	4.06	0.58432	D	0.999997	D	0.76494	0.999	D	0.72625	0.978	D	0.98676	1.0690	10	0.87932	D	0	-2.1776	12.8754	0.57988	0.1639:0.8361:0.0:0.0	.	100	P02042	HBD_HUMAN	Y	100	ENSP00000292901:D100Y;ENSP00000369654:D100Y;ENSP00000393810:D100Y	ENSP00000292901:D100Y	D	-	1	0	HBD	5211814	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.266000	0.58871	1.190000	0.43042	0.650000	0.86243	GAT		0.478	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		7	36	1	0	8.12818e-05	0.001984	9.60912e-05	7	36				
OR56A4	120793	broad.mit.edu	37	11	6023867	6023867	+	Missense_Mutation	SNP	A	A	G	rs370029590		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:6023867A>G	ENST00000330728.4	-	1	557	c.512T>C	c.(511-513)aTg>aCg	p.M171T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATGACCATGAACGTGCA	0.498																																							uc010qzv.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(511-513)ATG>ACG		olfactory receptor, family 56, subfamily A,		A	THR/MET	0,4402		0,0,2201	80.0	70.0	73.0		512	2.5	1.0	11		73	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR56A4	NM_001005179.2	81	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign	171/366	6023867	1,12993	2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023867A>G	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.512T>C	11.37:g.6023867A>G	ENSP00000328215:p.Met171Thr						p.M171T	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	512	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	119			Helical; Name=3; (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.512T>C	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	A	8.536	0.872031	0.17322	0.0	1.16E-4	ENSG00000183389	ENST00000330728	T	0.00873	5.59	3.58	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.173114	0.27000	U	0.021422	T	0.00580	0.0019	N	0.03294	-0.36	0.24952	N	0.991782	B	0.09022	0.002	B	0.12837	0.008	T	0.49532	-0.8930	10	0.54805	T	0.06	.	8.0818	0.30750	0.8921:0.0:0.1079:0.0	.	119	Q8NGH8	O56A4_HUMAN	T	171	ENSP00000328215:M171T	ENSP00000328215:M171T	M	-	2	0	OR56A4	5980443	0.001000	0.12720	0.980000	0.43619	0.676000	0.39594	1.541000	0.36126	1.609000	0.50190	0.454000	0.30748	ATG		0.498	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		14	19	0	0	0	0.003163	0	14	19				
FAM160A2	84067	broad.mit.edu	37	11	6245023	6245023	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:6245023C>A	ENST00000449352.2	-	3	857	c.594G>T	c.(592-594)ctG>ctT	p.L198L	FAM160A2_ENST00000265978.4_Silent_p.L198L|FAM160A2_ENST00000524416.1_Silent_p.L198L			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	198					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGTGGCTGCAGGAAGAACT	0.602																																							uc001mcl.3		NA																	0				skin(2)	2						c.(592-594)CTG>CTT		hypothetical protein LOC84067 isoform 2							73.0	81.0	78.0					11																	6245023		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245023C>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.594G>T	11.37:g.6245023C>A						FAM160A2_uc001mck.3_Silent_p.L198L|FAM160A2_uc001mcm.2_Silent_p.L198L	p.L198L	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			3	953	-			198					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.594G>T	CCDS44530.1																																																																																				0.602	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		17	50	1	0	2.23348e-06	0.004007	2.90285e-06	17	50				
DCHS1	8642	broad.mit.edu	37	11	6661175	6661175	+	Missense_Mutation	SNP	G	G	T	rs372255060		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:6661175G>T	ENST00000299441.3	-	2	2081	c.1670C>A	c.(1669-1671)cCt>cAt	p.P557H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGCTAGAGGGGGCAGGCC	0.562																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1669-1671)CCT>CAT		dachsous 1 precursor							91.0	92.0	91.0					11																	6661175		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661175G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1670C>A	11.37:g.6661175G>T	ENSP00000299441:p.Pro557His						p.P557H	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	2080	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	557			Extracellular (Potential).|Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1670C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442190	0.63067	.	.	ENSG00000166341	ENST00000299441	T	0.57107	0.42	4.65	4.65	0.58169	Cadherin (5);Cadherin-like (1);	0.000000	0.41938	D	0.000788	T	0.75421	0.3847	M	0.91038	3.17	0.58432	D	0.999992	P	0.51351	0.944	P	0.58660	0.843	T	0.81328	-0.0982	10	0.59425	D	0.04	.	17.077	0.86589	0.0:0.0:1.0:0.0	.	557	Q96JQ0	PCD16_HUMAN	H	557	ENSP00000299441:P557H	ENSP00000299441:P557H	P	-	2	0	DCHS1	6617751	1.000000	0.71417	0.995000	0.50966	0.866000	0.49608	7.705000	0.84606	2.588000	0.87417	0.579000	0.79373	CCT		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		15	48	1	0	2.23348e-06	0.004007	2.90285e-06	15	48				
OR2AG2	338755	broad.mit.edu	37	11	6790029	6790029	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:6790029G>T	ENST00000338569.2	-	1	257	c.160C>A	c.(160-162)Cgg>Agg	p.R54R		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	54			R -> P (in dbSNP:rs10839616).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGTGGAGCCGGGCTTCTATG	0.542																																							uc001meq.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(160-162)CGG>AGG		olfactory receptor, family 2, subfamily AG,							140.0	128.0	132.0					11																	6790029		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6790029G>T	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.160C>A	11.37:g.6790029G>T							p.R54R	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	160	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	54			Cytoplasmic (Potential).			Silent	SNP	ENST00000338569.2	37	c.160C>A	CCDS31413.1																																																																																				0.542	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		20	49	1	0	7.41877e-09	0.012319	1.07886e-08	20	49				
OR6A2	8590	broad.mit.edu	37	11	6816649	6816649	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:6816649G>T	ENST00000332601.3	-	1	479	c.291C>A	c.(289-291)atC>atA	p.I97I		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	97					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCAAAGGAGATTAGCTGTC	0.468																																							uc001mes.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(289-291)ATC>ATA		olfactory receptor, family 6, subfamily A,							141.0	133.0	136.0					11																	6816649		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816649G>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.291C>A	11.37:g.6816649G>T							p.I97I	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	491	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	97			Extracellular (Potential).		Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.291C>A	CCDS7772.1																																																																																				0.468	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		15	19	1	0	7.93312e-07	0.00245	1.05115e-06	15	19				
OR10A4	283297	broad.mit.edu	37	11	6898042	6898042	+	Missense_Mutation	SNP	C	C	T	rs187051778	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:6898042C>T	ENST00000379829.2	+	1	187	c.164C>T	c.(163-165)gCa>gTa	p.A55V		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	55					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTGACTCTGCACTACAAAGT	0.443													C|||	15	0.00299521	0.0	0.0	5008	,	,		20846	0.001		0.0	False		,,,				2504	0.0143						uc010rat.1		NA																	0				ovary(1)	1						c.(163-165)GCA>GTA		olfactory receptor, family 10, subfamily A,							189.0	177.0	181.0					11																	6898042		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898042C>T	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.164C>T	11.37:g.6898042C>T	ENSP00000369157:p.Ala55Val						p.A55V	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	164	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	55			Cytoplasmic (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.164C>T	CCDS7774.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	2.383	-0.341527	0.05243	.	.	ENSG00000170782	ENST00000379829	T	0.00584	6.4	4.91	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.322570	0.22314	N	0.061687	T	0.00552	0.0018	L	0.35723	1.085	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.47420	-0.9119	10	0.44086	T	0.13	.	5.4775	0.16704	0.0:0.6584:0.164:0.1776	.	55	Q9H209	O10A4_HUMAN	V	55	ENSP00000369157:A55V	ENSP00000369157:A55V	A	+	2	0	OR10A4	6854618	0.000000	0.05858	0.751000	0.31187	0.019000	0.09904	-0.822000	0.04448	0.794000	0.33899	-0.119000	0.15052	GCA		0.443	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		14	53	0	0	0	0.001855	0	14	53				
OR10A4	283297	broad.mit.edu	37	11	6898667	6898667	+	Silent	SNP	C	C	A	rs185904346	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:6898667C>A	ENST00000379829.2	+	1	812	c.789C>A	c.(787-789)ccC>ccA	p.P263P		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	263					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATTTCCGACCCCAATCCAGTG	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		19728	0.002		0.0	False		,,,				2504	0.0						uc010rat.1		NA																	0				ovary(1)	1						c.(787-789)CCC>CCA		olfactory receptor, family 10, subfamily A,							169.0	140.0	150.0					11																	6898667		2201	4296	6497	SO:0001819	synonymous_variant	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898667C>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.789C>A	11.37:g.6898667C>A							p.P263P	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	789	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	263			Extracellular (Potential).		B2RNP5|B9EH36|Q96R20	Silent	SNP	ENST00000379829.2	37	c.789C>A	CCDS7774.1																																																																																				0.517	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		14	39	1	0	9.31168e-06	0.001855	1.16912e-05	14	39				
MRVI1	10335	broad.mit.edu	37	11	10648107	10648107	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:10648107G>T	ENST00000436272.1	-	8	771	c.693C>A	c.(691-693)gaC>gaA	p.D231E	MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.D250E|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.D249E|MRVI1_ENST00000552103.1_Missense_Mutation_p.D167E|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000547195.1_Missense_Mutation_p.D167E|MRVI1_ENST00000527509.2_Missense_Mutation_p.D167E|MRVI1_ENST00000423302.2_Missense_Mutation_p.D258E|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	231					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCTGCTTCCTGTCAGCTAGCC	0.532																																							uc010rcc.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(772-774)GAC>GAA		JAW1-related protein isoform c							59.0	60.0	60.0					11																	10648107		1960	4157	6117	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10648107G>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.693C>A	11.37:g.10648107G>T	ENSP00000412229:p.Asp231Glu					MRVI1_uc001miw.2_Missense_Mutation_p.D249E|MRVI1_uc010rcb.1_Missense_Mutation_p.D250E|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.D167E|MRVI1_uc009ygc.1_Missense_Mutation_p.D167E|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	p.D258E	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	9	1160	-			231					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.774C>A		.	.	.	.	.	.	.	.	.	.	G	15.23	2.771995	0.49680	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T	0.20069	2.68;2.66;2.1;2.1;2.5;2.68;2.1	5.56	3.69	0.42338	.	0.057580	0.64402	D	0.000002	T	0.30386	0.0763	L	0.54323	1.7	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.61800	0.787;0.787;0.894	T	0.05818	-1.0862	10	0.30078	T	0.28	-22.713	5.3052	0.15799	0.3835:0.0:0.6165:0.0	.	231;250;249	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	E	249;232;231;167;167;258;250;167	ENSP00000414598:D249E;ENSP00000412229:D231E;ENSP00000448278:D167E;ENSP00000446764:D167E;ENSP00000412130:D258E;ENSP00000432436:D250E;ENSP00000432067:D167E	ENSP00000307885:D232E	D	-	3	2	MRVI1	10604683	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.599000	0.46231	1.361000	0.45981	0.563000	0.77884	GAC		0.532	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		3	13	1	0	6.4e-05	0.004672	7.65288e-05	3	13				
GALNT18	374378	broad.mit.edu	37	11	11470442	11470442	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:11470442T>C	ENST00000227756.4	-	2	688	c.277A>G	c.(277-279)Aca>Gca	p.T93A		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	93					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GAGGAGTCTGTGAAGGGCTCG	0.612																																							uc001mjo.2		NA																	0					0						c.(277-279)ACA>GCA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							22.0	23.0	23.0					11																	11470442		2201	4293	6494	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11470442T>C	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.277A>G	11.37:g.11470442T>C	ENSP00000227756:p.Thr93Ala						p.T93A	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	2	698	-			93			Lumenal (Potential).		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.277A>G	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	T	8.740	0.918846	0.17982	.	.	ENSG00000110328	ENST00000227756	T	0.54279	0.58	5.36	5.36	0.76844	.	0.582776	0.17464	N	0.173328	T	0.31544	0.0800	N	0.11427	0.14	0.35144	D	0.769112	B	0.19200	0.034	B	0.18871	0.023	T	0.27020	-1.0086	10	0.06625	T	0.88	.	14.1792	0.65562	0.0:0.0:0.0:1.0	.	93	Q6P9A2	GLTL4_HUMAN	A	93	ENSP00000227756:T93A	ENSP00000227756:T93A	T	-	1	0	GALNTL4	11427018	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.164000	0.58190	2.023000	0.59567	0.459000	0.35465	ACA		0.612	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		5	2	0	0	0	0.000602	0	5	2				
PIK3C2A	5286	broad.mit.edu	37	11	17111392	17111392	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:17111392G>C	ENST00000265970.7	-	32	4953	c.4954C>G	c.(4954-4956)Ctg>Gtg	p.L1652V	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1272V|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1652	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTCTCCCGCAGAGATTCTGCA	0.413																																							uc001mmq.3		NA																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(4954-4956)CTG>GTG		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						185.0	200.0	195.0					11																	17111392		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17111392G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4954C>G	11.37:g.17111392G>C	ENSP00000265970:p.Leu1652Val					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.L1272V|PIK3C2A_uc001mmr.3_Intron	p.L1652V	NM_002645	NP_002636	O00443	P3C2A_HUMAN			32	5020	-			1652			C2.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4954C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008097	0.54361	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.08634	3.07;3.07	5.44	4.3	0.51218	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	N	0.16567	0.415	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.02301	-1.1180	10	0.54805	T	0.06	-5.9075	6.9318	0.24445	0.2451:0.0:0.7549:0.0	.	1652	O00443	P3C2A_HUMAN	V	1652;1272	ENSP00000265970:L1652V;ENSP00000438687:L1272V	ENSP00000265970:L1652V	L	-	1	2	PIK3C2A	17067968	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.513000	0.60476	2.707000	0.92482	0.655000	0.94253	CTG		0.413	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		18	99	0	0	0	0.007413	0	18	99				
MRGPRX1	259249	broad.mit.edu	37	11	18955702	18955702	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:18955702C>A	ENST00000302797.3	-	1	854	c.630G>T	c.(628-630)ccG>ccT	p.P210P	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	210					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTGGTCAGCGGTATCTTCC	0.507																																							uc001mpg.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(628-630)CCG>CCT		MAS-related GPR, member X1							102.0	86.0	91.0					11																	18955702		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955702C>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.630G>T	11.37:g.18955702C>A							p.P210P	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	848	-			210			Cytoplasmic (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.630G>T	CCDS7846.1																																																																																				0.507	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		6	18	1	0	0.00116845	0.001168	0.00129404	6	18				
KCNA4	3739	broad.mit.edu	37	11	30033219	30033219	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:30033219C>A	ENST00000328224.6	-	2	2240	c.1007G>T	c.(1006-1008)aGg>aTg	p.R336M	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	336					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACGAGATCCCTGTCGTCCCT	0.512																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1006-1008)AGG>ATG		potassium voltage-gated channel, shaker-related							86.0	79.0	81.0					11																	30033219		2048	4203	6251	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033219C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1007G>T	11.37:g.30033219C>A	ENSP00000328511:p.Arg336Met						p.R336M	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2159	-			336						Missense_Mutation	SNP	ENST00000328224.6	37	c.1007G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578880	0.46006	.	.	ENSG00000182255	ENST00000328224	D	0.96830	-4.14	5.16	4.13	0.48395	.	0.519287	0.16789	N	0.199450	D	0.92064	0.7485	L	0.55990	1.75	0.42188	D	0.991714	P	0.34743	0.466	B	0.25987	0.065	D	0.90461	0.4446	10	0.72032	D	0.01	.	3.3158	0.07032	0.0:0.6125:0.0:0.3875	.	336	P22459	KCNA4_HUMAN	M	336	ENSP00000328511:R336M	ENSP00000328511:R336M	R	-	2	0	KCNA4	29989795	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.975000	0.63777	2.412000	0.81896	0.655000	0.94253	AGG		0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		10	63	1	0	0.00621372	0.006214	0.00666455	10	63				
ABTB2	25841	broad.mit.edu	37	11	34181802	34181802	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:34181802G>T	ENST00000435224.2	-	12	2920	c.2496C>A	c.(2494-2496)gcC>gcA	p.A832A	ABTB2_ENST00000298992.2_Silent_p.A646A	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	832					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CACCTAGCCTGGCCGGCAGGG	0.602																																							uc001mvl.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1936-1938)GCC>GCA		ankyrin repeat and BTB (POZ) domain containing							66.0	65.0	65.0					11																	34181802		2202	4298	6500	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34181802G>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2496C>A	11.37:g.34181802G>T							p.A646A	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			12	2168	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	646					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.1938C>A	CCDS7890.2																																																																																				0.602	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		14	29	1	0	4.3838e-07	0.001855	5.8727e-07	14	29				
PAMR1	25891	broad.mit.edu	37	11	35456112	35456112	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:35456112C>A	ENST00000378880.2	-	10	2019	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	PAMR1_ENST00000532848.1_Missense_Mutation_p.G485V|PAMR1_ENST00000378878.3_Missense_Mutation_p.G414V|PAMR1_ENST00000278360.3_Missense_Mutation_p.G542V	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	525	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTAGAATTTCCCCAAAACAAC	0.537																																							uc001mwg.2		NA																	0				ovary(2)	2						c.(1573-1575)GGG>GTG		regeneration associated muscle protease isoform							139.0	124.0	129.0					11																	35456112		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456112C>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1574G>T	11.37:g.35456112C>A	ENSP00000368158:p.Gly525Val					PAMR1_uc001mwf.2_Missense_Mutation_p.G542V|PAMR1_uc010rew.1_Missense_Mutation_p.G414V|PAMR1_uc010rex.1_Missense_Mutation_p.G485V	p.G525V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			10	1617	-			525			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1574G>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681047	0.88542	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98917	1.0782	10	0.87932	D	0	.	19.4297	0.94759	0.0:1.0:0.0:0.0	.	414;525;542	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	V	542;525;414;485;502	ENSP00000278360:G542V;ENSP00000368158:G525V;ENSP00000368156:G414V;ENSP00000433868:G485V;ENSP00000432591:G502V	ENSP00000278360:G542V	G	-	2	0	PAMR1	35412688	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.602000	0.87976	0.555000	0.69702	GGG		0.537	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		7	72	1	0	8.12818e-05	0.001984	9.60912e-05	7	72				
RAG1	5896	broad.mit.edu	37	11	36597194	36597194	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:36597194A>T	ENST00000299440.5	+	2	2452	c.2340A>T	c.(2338-2340)aaA>aaT	p.K780N		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	780					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATCGGGTGAAAGGGGTCTCAG	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2338-2340)AAA>AAT		recombination activating gene 1							83.0	80.0	81.0					11																	36597194		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597194A>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2340A>T	11.37:g.36597194A>T	ENSP00000299440:p.Lys780Asn					RAG1_uc001mwt.2_RNA	p.K780N	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2464	+	all_lung(20;0.226)	all_hematologic(20;0.107)	780					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2340A>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.270221	0.59540	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88046	-2.33;-2.33	6.13	-0.0848	0.13689	.	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	H	0.96142	3.775	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.93577	0.6909	10	0.87932	D	0	.	11.4366	0.50072	0.5737:0.0:0.4263:0.0	.	780	P15918	RAG1_HUMAN	N	780	ENSP00000434610:K780N;ENSP00000299440:K780N	ENSP00000299440:K780N	K	+	3	2	RAG1	36553770	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	1.353000	0.34045	-0.231000	0.09825	0.524000	0.50904	AAA		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		17	75	0	0	0	0.00499	0	17	75				
EXT2	2132	broad.mit.edu	37	11	44129620	44129620	+	Missense_Mutation	SNP	G	G	T	rs115948531	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:44129620G>T	ENST00000343631.3	+	2	487	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	EXT2_ENST00000533608.1_Missense_Mutation_p.V120F|EXT2_ENST00000395673.3_Missense_Mutation_p.V153F|EXT2_ENST00000358681.4_Missense_Mutation_p.V120F|EXT2_ENST00000529186.1_3'UTR			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	120					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGACTTTGGCGTCTCTGTCAG	0.458			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																														uc001mxz.2		NA	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(358-360)GTC>TTC		exostosin 2 isoform 2							115.0	106.0	109.0					11																	44129620		2203	4300	6503	SO:0001583	missense	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129620G>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.358G>T	11.37:g.44129620G>T	ENSP00000342656:p.Val120Phe					EXT2_uc010rfo.1_Missense_Mutation_p.V148F|EXT2_uc001mxy.2_Missense_Mutation_p.V133F|EXT2_uc009ykt.2_Missense_Mutation_p.V120F|EXT2_uc001mya.2_Missense_Mutation_p.V153F	p.V120F	NM_207122	NP_997005	Q93063	EXT2_HUMAN			2	692	+			120			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.358G>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139665	0.21205	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.24	4.33	0.51752	.	0.335976	0.31188	N	0.008099	D	0.94026	0.8086	L	0.43152	1.355	0.26573	N	0.973524	B;B;B;B;B	0.31879	0.344;0.119;0.098;0.064;0.199	B;B;B;B;B	0.39805	0.275;0.31;0.207;0.169;0.169	D	0.84974	0.0884	10	0.10111	T	0.7	-7.5861	8.0367	0.30496	0.1853:0.0:0.8147:0.0	.	120;120;120;120;133	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	F	120;120;153;120	ENSP00000431173:V120F;ENSP00000351509:V120F;ENSP00000379032:V153F;ENSP00000342656:V120F	ENSP00000342656:V120F	V	+	1	0	EXT2	44086196	0.284000	0.24287	0.242000	0.24170	0.172000	0.22775	2.684000	0.46951	2.458000	0.83093	0.650000	0.86243	GTC		0.458	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		18	30	1	0	1.50039e-11	0.012319	2.37271e-11	18	30				
CHRM4	1132	broad.mit.edu	37	11	46407467	46407467	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:46407467A>T	ENST00000433765.2	-	1	640	c.641T>A	c.(640-642)cTg>cAg	p.L214Q		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	214					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTGGATGTACAGCACCGTCAT	0.597																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1		NA																	0					0						c.(640-642)CTG>CAG		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						29.0	33.0	32.0					11																	46407467		2174	4286	6460	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407467A>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.641T>A	11.37:g.46407467A>T	ENSP00000409378:p.Leu214Gln						p.L214Q	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	641	-			214			Helical; Name=5; (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.641T>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613168	0.66672	.	.	ENSG00000180720	ENST00000433765	T	0.41400	1.0	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70894	0.3276	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78974	-0.1992	9	0.87932	D	0	-1.0553	14.3675	0.66815	1.0:0.0:0.0:0.0	.	214	P08173	ACM4_HUMAN	Q	214	ENSP00000409378:L214Q	ENSP00000409378:L214Q	L	-	2	0	CHRM4	46364043	1.000000	0.71417	0.992000	0.48379	0.860000	0.49131	9.129000	0.94430	1.982000	0.57802	0.379000	0.24179	CTG		0.597	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		5	15	0	0	0	0.000602	0	5	15				
CKAP5	9793	broad.mit.edu	37	11	46783552	46783552	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:46783552T>C	ENST00000529230.1	-	32	4265	c.4219A>G	c.(4219-4221)Aat>Gat	p.N1407D	CKAP5_ENST00000415402.1_Missense_Mutation_p.N1407D|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.N1407D|CKAP5_ENST00000312055.5_Missense_Mutation_p.N1407D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1407					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCACTCACATTTCCAATCAGT	0.438																																					Ovarian(4;85 273 2202 4844 13323)	Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(4219-4221)AAT>GAT		colonic and hepatic tumor over-expressed protein							111.0	92.0	98.0					11																	46783552		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46783552T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4219A>G	11.37:g.46783552T>C	ENSP00000432768:p.Asn1407Asp					CKAP5_uc009ylg.1_Missense_Mutation_p.N1293D|CKAP5_uc001ndj.1_Missense_Mutation_p.N1407D|CKAP5_uc001ndh.1_Missense_Mutation_p.N336D	p.N1407D	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			32	4329	-			1407					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4219A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480860	0.63849	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.086060	0.85682	D	0.000000	T	0.41696	0.1170	L	0.41710	1.295	0.58432	D	0.999994	B;B;B	0.31655	0.096;0.286;0.334	B;B;B	0.40534	0.068;0.224;0.332	T	0.19910	-1.0291	10	0.17832	T	0.49	-6.1766	15.9502	0.79827	0.0:0.0:0.0:1.0	.	1407;1407;1407	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	D	1407;1407;1407;1407;130	ENSP00000432768:N1407D;ENSP00000395302:N1407D;ENSP00000310227:N1407D;ENSP00000346566:N1407D	ENSP00000310227:N1407D	N	-	1	0	CKAP5	46740128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.201000	0.72124	2.167000	0.68274	0.460000	0.39030	AAT		0.438	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		8	58	0	0	0	0.00308	0	8	58				
DDB2	1643	broad.mit.edu	37	11	47256366	47256366	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:47256366G>T	ENST00000256996.4	+	6	956	c.761G>T	c.(760-762)tGt>tTt	p.C254F	DDB2_ENST00000378603.3_Missense_Mutation_p.C190F|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	254					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						AACCCATGCTGTGATTGGTTC	0.537			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc001neb.2		NA	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(760-762)TGT>TTT	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							54.0	52.0	53.0					11																	47256366		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47256366G>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.761G>T	11.37:g.47256366G>T	ENSP00000256996:p.Cys254Phe					DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Missense_Mutation_p.C190F|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.C113F|DDB2_uc001neh.2_RNA	p.C254F	NM_000107	NP_000098	Q92466	DDB2_HUMAN			6	956	+			254			WD 3.		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.761G>T	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381564	0.82792	.	.	ENSG00000134574	ENST00000256996;ENST00000378603	T;T	0.65364	-0.15;2.81	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.98;1.0	T	0.73585	-0.3936	10	0.56958	D	0.05	-12.6033	19.786	0.96437	0.0:0.0:1.0:0.0	.	190;254	Q92466-4;Q92466	.;DDB2_HUMAN	F	254;190	ENSP00000256996:C254F;ENSP00000367866:C190F	ENSP00000256996:C254F	C	+	2	0	DDB2	47212942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.449000	0.97603	2.676000	0.91093	0.563000	0.77884	TGT		0.537	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		11	20	1	0	4.68919e-08	0.008291	6.60997e-08	11	20				
PTPRJ	5795	broad.mit.edu	37	11	48146544	48146544	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:48146544G>T	ENST00000418331.2	+	6	1251	c.899G>T	c.(898-900)cGg>cTg	p.R300L	PTPRJ_ENST00000440289.2_Missense_Mutation_p.R300L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	300	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAGAGAAGCCGGGCAGGGAGC	0.587																																							uc001ngp.3		NA																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(898-900)CGG>CTG		protein tyrosine phosphatase, receptor type, J							129.0	157.0	147.0					11																	48146544		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48146544G>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.899G>T	11.37:g.48146544G>T	ENSP00000400010:p.Arg300Leu					PTPRJ_uc001ngo.3_Missense_Mutation_p.R300L	p.R300L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			6	1254	+			300			Extracellular (Potential).|Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.899G>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	8.886	0.952756	0.18431	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.35421	2.64;1.31	4.2	-4.59	0.03400	Fibronectin, type III (1);	.	.	.	.	T	0.16128	0.0388	L	0.34521	1.04	0.09310	N	1	B;P	0.38597	0.0;0.639	B;B	0.31442	0.002;0.13	T	0.13926	-1.0491	9	0.30078	T	0.28	.	0.4456	0.00493	0.3925:0.1905:0.1336:0.2834	.	300;300	Q12913;Q6P4H4	PTPRJ_HUMAN;.	L	300	ENSP00000400010:R300L;ENSP00000409733:R300L	ENSP00000278456:R300L	R	+	2	0	PTPRJ	48103120	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.203000	0.09438	-0.862000	0.04089	-2.100000	0.00362	CGG		0.587	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			40	253	1	0	7.05121e-23	0.010771	1.32162e-22	40	253				
OR4A47	403253	broad.mit.edu	37	11	48511136	48511136	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:48511136C>A	ENST00000446524.1	+	1	868	c.792C>A	c.(790-792)ccC>ccA	p.P264P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P264P(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGACCTTCCCCATTGACAAAT	0.423																																							uc010rhx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(790-792)CCC>CCA		olfactory receptor, family 4, subfamily A,							221.0	214.0	216.0					11																	48511136		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511136C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.792C>A	11.37:g.48511136C>A							p.P264P	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	792	+			264			Extracellular (Potential).			Silent	SNP	ENST00000446524.1	37	c.792C>A	CCDS31490.1																																																																																				0.423	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		48	115	1	0	1.86277e-20	0.00361	3.43834e-20	48	115				
LOC440040	440040	broad.mit.edu	37	11	49598243	49598243	+	RNA	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:49598243C>A	ENST00000527477.1	+	0	847																											GTCATTGGGCCTGGTTCCAGT	0.502																																							uc010rhy.1		NA																	0					0						c.(355-357)CCT>CAT		SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5;																																						440040							g.chr11:49598243C>A																													11.37:g.49598243C>A						LOC440040_uc009ymb.2_Missense_Mutation_p.P119H	p.P119H	NR_027044						2	834	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.356C>A																																																																																					0.502	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			3	25	1	0	3.59834e-05	0.001168	4.39136e-05	3	25				
TRIM48	79097	broad.mit.edu	37	11	55032683	55032683	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55032683A>G	ENST00000417545.2	+	2	438	c.352A>G	c.(352-354)Atg>Gtg	p.M118V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	102						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACAAAGAAGATGTTCTGTGA	0.532																																							uc010rid.1		NA																	0					0						c.(352-354)ATG>GTG		tripartite motif-containing 48							82.0	75.0	77.0					11																	55032683		2187	4260	6447	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032683A>G	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.352A>G	11.37:g.55032683A>G	ENSP00000402414:p.Met118Val						p.M118V	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	438	+			102			B box-type.		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.352A>G	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	a	10.15	1.271957	0.23221	.	.	ENSG00000150244	ENST00000417545	T	0.39787	1.06	0.596	0.596	0.17496	Zinc finger, B-box (3);	.	.	.	.	T	0.25975	0.0633	N	0.17901	0.54	0.20489	N	0.999894	B	0.12630	0.006	B	0.28553	0.091	T	0.29731	-1.0002	9	0.51188	T	0.08	.	3.4676	0.07555	0.5711:0.4287:0.0:1.0E-4	.	102	Q8IWZ4	TRI48_HUMAN	V	118	ENSP00000402414:M118V	ENSP00000402414:M118V	M	+	1	0	TRIM48	54789259	0.998000	0.40836	0.846000	0.33378	0.742000	0.42306	0.332000	0.19751	0.526000	0.28541	0.338000	0.21704	ATG		0.532	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			7	58	0	0	0	0.001984	0	7	58				
TRIM48	79097	broad.mit.edu	37	11	55032762	55032762	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55032762C>A	ENST00000417545.2	+	2	517	c.431C>A	c.(430-432)cCc>cAc	p.P144H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P128H(1)|p.P144H(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACACTGTCCCGCTGAGTGG	0.493																																							uc010rid.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(430-432)CCC>CAC		tripartite motif-containing 48							45.0	42.0	43.0					11																	55032762		2187	4250	6437	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032762C>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.431C>A	11.37:g.55032762C>A	ENSP00000402414:p.Pro144His						p.P144H	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	517	+			128			B box-type.		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.431C>A	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	12.10	1.836684	0.32421	.	.	ENSG00000150244	ENST00000417545	T	0.50813	0.73	0.596	0.596	0.17496	Zinc finger, B-box (3);	.	.	.	.	T	0.65780	0.2724	M	0.84082	2.675	0.24871	N	0.99228	D	0.89917	1.0	D	0.81914	0.995	T	0.52109	-0.8619	9	0.87932	D	0	.	7.1377	0.25537	0.0:0.9999:0.0:1.0E-4	.	128	Q8IWZ4	TRI48_HUMAN	H	144	ENSP00000402414:P144H	ENSP00000402414:P144H	P	+	2	0	TRIM48	54789338	0.071000	0.21146	0.038000	0.18304	0.043000	0.13939	3.040000	0.49799	0.629000	0.30376	0.413000	0.27773	CCC		0.493	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			7	33	1	0	2.17888e-05	0.006214	2.68607e-05	7	33				
OR4S2	219431	broad.mit.edu	37	11	55418948	55418948	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55418948C>A	ENST00000312422.2	+	1	569	c.569C>A	c.(568-570)aCa>aAa	p.T190K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGCACAGAAACATACATTGTT	0.448																																							uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(568-570)ACA>AAA		olfactory receptor, family 4, subfamily S,							260.0	196.0	218.0					11																	55418948		2182	4047	6229	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418948C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.569C>A	11.37:g.55418948C>A	ENSP00000310337:p.Thr190Lys						p.T190K	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	569	+		all_epithelial(135;0.0748)	190			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.569C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826705	0.32329	.	.	ENSG00000174982	ENST00000312422	T	0.00253	8.43	5.24	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.00695	0.0023	M	0.93678	3.445	0.30847	N	0.735073	D	0.89917	1.0	D	0.97110	1.0	T	0.02498	-1.1150	10	0.87932	D	0	.	8.8706	0.35314	0.0:0.8266:0.0:0.1734	.	190	Q8NH73	OR4S2_HUMAN	K	190	ENSP00000310337:T190K	ENSP00000310337:T190K	T	+	2	0	OR4S2	55175524	0.000000	0.05858	0.267000	0.24556	0.120000	0.20174	-0.087000	0.11215	1.194000	0.43101	0.542000	0.68232	ACA		0.448	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		32	140	1	0	6.53348e-20	0.003755	1.20465e-19	32	140				
OR4S2	219431	broad.mit.edu	37	11	55419038	55419038	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55419038T>A	ENST00000312422.2	+	1	659	c.659T>A	c.(658-660)cTa>cAa	p.L220Q		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGCATCATCCTAGTTTCCCTG	0.493																																							uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(658-660)CTA>CAA		olfactory receptor, family 4, subfamily S,							172.0	137.0	149.0					11																	55419038		2177	4033	6210	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419038T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.659T>A	11.37:g.55419038T>A	ENSP00000310337:p.Leu220Gln						p.L220Q	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	659	+		all_epithelial(135;0.0748)	220			Cytoplasmic (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.659T>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265141	0.59431	.	.	ENSG00000174982	ENST00000312422	T	0.00249	8.44	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000699	T	0.00815	0.0027	M	0.93328	3.405	0.09310	N	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.22277	-1.0221	10	0.87932	D	0	.	14.1617	0.65450	0.0:0.0:0.0:1.0	.	220	Q8NH73	OR4S2_HUMAN	Q	220	ENSP00000310337:L220Q	ENSP00000310337:L220Q	L	+	2	0	OR4S2	55175614	0.010000	0.17322	0.209000	0.23619	0.575000	0.36095	2.701000	0.47094	2.028000	0.59812	0.443000	0.29094	CTA		0.493	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		20	92	0	0	0	0.007413	0	20	92				
OR5L1	219437	broad.mit.edu	37	11	55578958	55578958	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55578958T>A	ENST00000333973.2	+	1	105	c.16T>A	c.(16-18)Tgc>Agc	p.C6S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CAAGGAAAACTGCACCACTGT	0.398																																							uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(16-18)TGC>AGC		olfactory receptor, family 5, subfamily L,							164.0	160.0	161.0					11																	55578958		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55578958T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.16T>A	11.37:g.55578958T>A	ENSP00000335529:p.Cys6Ser						p.C6S	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	16	+		all_epithelial(135;0.208)	6			Extracellular (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.16T>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	11.34	1.608799	0.28623	.	.	ENSG00000186117	ENST00000333973	T	0.00495	6.99	3.96	1.43	0.22495	.	0.000000	0.53938	D	0.000053	T	0.00271	0.0008	N	0.03029	-0.43	0.18873	N	0.999984	P	0.45594	0.862	P	0.48627	0.584	T	0.52697	-0.8541	10	0.20519	T	0.43	-17.9748	3.3402	0.07115	0.1708:0.1961:0.0:0.6331	.	6	Q8NGL2	OR5L1_HUMAN	S	6	ENSP00000335529:C6S	ENSP00000335529:C6S	C	+	1	0	OR5L1	55335534	0.000000	0.05858	0.043000	0.18650	0.211000	0.24417	-1.987000	0.01483	0.385000	0.24970	0.358000	0.22013	TGC		0.398	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		16	124	0	0	0	0.009535	0	16	124				
OR5D18	219438	broad.mit.edu	37	11	55587679	55587679	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55587679G>T	ENST00000333976.4	+	1	594	c.574G>T	c.(574-576)Gat>Tat	p.D192Y		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D192Y(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTCTTGCTCTGATACTTACAT	0.403																																							uc010rin.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(574-576)GAT>TAT		olfactory receptor, family 5, subfamily D,							199.0	177.0	185.0					11																	55587679		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587679G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.574G>T	11.37:g.55587679G>T	ENSP00000335025:p.Asp192Tyr						p.D192Y	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	574	+		all_epithelial(135;0.208)	192			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.574G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	4.525	0.097376	0.08681	.	.	ENSG00000186119	ENST00000333976	T	0.00267	8.38	4.85	-0.485	0.12067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	D	0.000996	T	0.00384	0.0012	M	0.92833	3.35	0.09310	N	0.999999	P	0.44986	0.847	P	0.49597	0.616	T	0.39901	-0.9591	10	0.87932	D	0	-10.2857	6.113	0.20112	0.2717:0.0:0.6079:0.1204	.	192	Q8NGL1	OR5DI_HUMAN	Y	192	ENSP00000335025:D192Y	ENSP00000335025:D192Y	D	+	1	0	OR5D18	55344255	0.002000	0.14202	0.018000	0.16275	0.044000	0.14063	0.234000	0.17930	-0.254000	0.09500	-1.079000	0.02226	GAT		0.403	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		43	93	1	0	6.57855e-14	0.009718	1.11501e-13	43	93				
OR5L2	26338	broad.mit.edu	37	11	55595022	55595022	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55595022A>T	ENST00000378397.1	+	1	328	c.328A>T	c.(328-330)Act>Tct	p.T110S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATGTGGAGTCACTGAGGTCTT	0.493										HNSCC(27;0.073)																													uc001nhy.1		NA																	0				ovary(1)	1						c.(328-330)ACT>TCT		olfactory receptor, family 5, subfamily L,							182.0	171.0	175.0					11																	55595022		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595022A>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.328A>T	11.37:g.55595022A>T	ENSP00000367650:p.Thr110Ser	HNSCC(27;0.073)					p.T110S	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	328	+		all_epithelial(135;0.208)	110			Helical; Name=3; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.328A>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	5.006	0.186823	0.09547	.	.	ENSG00000205030	ENST00000378397	T	0.01359	4.98	5.18	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.255257	0.27861	N	0.017548	T	0.01320	0.0043	L	0.33137	0.985	0.09310	N	1	B	0.25719	0.132	B	0.24974	0.057	T	0.48768	-0.9006	10	0.23891	T	0.37	-23.2117	5.9212	0.19084	0.5689:0.1472:0.0:0.2839	.	110	Q8NGL0	OR5L2_HUMAN	S	110	ENSP00000367650:T110S	ENSP00000367650:T110S	T	+	1	0	OR5L2	55351598	0.000000	0.05858	0.053000	0.19242	0.205000	0.24178	0.716000	0.25836	0.903000	0.36546	0.509000	0.49947	ACT		0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		13	58	0	0	0	0.001368	0	13	58				
OR10AG1	282770	broad.mit.edu	37	11	55735707	55735707	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55735707G>C	ENST00000312345.2	-	1	283	c.233C>G	c.(232-234)aCt>aGt	p.T78S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCCTTTCTGAGTCCAAATGTC	0.383																																							uc010rit.1		NA																	0				skin(2)	2						c.(232-234)ACT>AGT		olfactory receptor, family 10, subfamily AG,							77.0	83.0	81.0					11																	55735707		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735707G>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.233C>G	11.37:g.55735707G>C	ENSP00000311477:p.Thr78Ser						p.T78S	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	233	-	Esophageal squamous(21;0.0137)		78			Extracellular (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.233C>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	2.424	-0.332513	0.05314	.	.	ENSG00000174970	ENST00000312345	T	0.00463	7.25	5.47	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.596491	0.15148	N	0.277871	T	0.00271	0.0008	N	0.11845	0.185	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.33548	-0.9864	10	0.06365	T	0.9	.	14.1734	0.65525	0.0:0.1512:0.8488:0.0	.	78	Q8NH19	O10AG_HUMAN	S	78	ENSP00000311477:T78S	ENSP00000311477:T78S	T	-	2	0	OR10AG1	55492283	0.000000	0.05858	0.037000	0.18230	0.105000	0.19272	-0.277000	0.08502	1.334000	0.45468	0.477000	0.44152	ACT		0.383	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		6	44	0	0	0	0.001168	0	6	44				
OR5AS1	219447	broad.mit.edu	37	11	55798067	55798068	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55798067_55798068CC>AT	ENST00000313555.1	+	1	173_174	c.173_174CC>AT	c.(172-174)cCC>cAT	p.P58H		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTTCAAATTCCCATGTATTATT	0.342																																							uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(172-174)CCC>CAT		olfactory receptor, family 5, subfamily AS,																																				SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798067_55798068CC>AT	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	Exception_encountered	11.37:g.55798067_55798068delinsAT	ENSP00000324111:p.Pro58His						p.P58H	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	173_174	+	Esophageal squamous(21;0.00693)		58			Helical; Name=2; (Potential).		Q6IFB8	Missense_Mutation	DNP	ENST00000313555.1	37	c.173_174CC>AT	CCDS31516.1																																																																																				0.342	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		9	27	0	0	0	0.004672	0	9	27				
OR5AS1	219447	broad.mit.edu	37	11	55798258	55798258	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55798258C>A	ENST00000313555.1	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(3)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGCTTATGACCGCTATGCAGC	0.458																																							uc010riw.1		NA																	3	Substitution - Missense(3)		prostate(1)|lung(1)|endometrium(1)	ovary(3)|liver(1)|skin(1)	5						c.(364-366)CGC>AGC		olfactory receptor, family 5, subfamily AS,							131.0	107.0	115.0					11																	55798258		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798258C>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.364C>A	11.37:g.55798258C>A	ENSP00000324111:p.Arg122Ser						p.R122S	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	364	+	Esophageal squamous(21;0.00693)		122			Cytoplasmic (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.364C>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799357	0.50208	.	.	ENSG00000181785	ENST00000313555	T	0.77620	-1.11	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.224065	0.22821	U	0.055229	D	0.88496	0.6452	M	0.93978	3.48	0.32265	N	0.569686	D	0.58970	0.984	P	0.51999	0.687	D	0.92507	0.6013	10	0.87932	D	0	.	17.8641	0.88791	0.0:1.0:0.0:0.0	.	122	Q8N127	O5AS1_HUMAN	S	122	ENSP00000324111:R122S	ENSP00000324111:R122S	R	+	1	0	OR5AS1	55554834	0.508000	0.26154	1.000000	0.80357	0.157000	0.22087	0.829000	0.27449	2.557000	0.86248	0.643000	0.83706	CGC		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		16	34	1	0	6.31663e-08	0.003163	8.85996e-08	16	34				
OR5AS1	219447	broad.mit.edu	37	11	55798783	55798783	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55798783G>T	ENST00000313555.1	+	1	889	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAACAAGGATGTGAAAAATGC	0.313																																							uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(889-891)GTG>TTG		olfactory receptor, family 5, subfamily AS,							47.0	52.0	50.0					11																	55798783		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798783G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.889G>T	11.37:g.55798783G>T	ENSP00000324111:p.Val297Leu						p.V297L	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	889	+	Esophageal squamous(21;0.00693)		297			Cytoplasmic (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.889G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	6.295	0.422572	0.11928	.	.	ENSG00000181785	ENST00000313555	T	0.37584	1.19	4.76	2.84	0.33178	.	0.000000	0.30593	U	0.009282	T	0.17365	0.0417	N	0.12746	0.255	0.09310	N	0.999996	P	0.37122	0.583	B	0.31016	0.123	T	0.13683	-1.0500	10	0.87932	D	0	.	8.2428	0.31671	0.2609:0.0:0.7391:0.0	.	297	Q8N127	O5AS1_HUMAN	L	297	ENSP00000324111:V297L	ENSP00000324111:V297L	V	+	1	0	OR5AS1	55555359	1.000000	0.71417	0.225000	0.23894	0.051000	0.14879	2.369000	0.44231	0.987000	0.38709	0.579000	0.79373	GTG		0.313	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		15	46	1	0	6.53275e-17	0.00245	1.16168e-16	15	46				
OR8H2	390151	broad.mit.edu	37	11	55872770	55872770	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55872770G>A	ENST00000313503.1	+	1	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438										HNSCC(53;0.14)																													uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(250-252)GCG>GCA		olfactory receptor, family 8, subfamily H,							283.0	286.0	285.0					11																	55872770		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872770G>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.252G>A	11.37:g.55872770G>A		HNSCC(53;0.14)					p.A84A	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	252	+	Esophageal squamous(21;0.00693)		84			Extracellular (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.252G>A	CCDS31518.1																																																																																				0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		42	269	0	0	0	0.00361	0	42	269				
OR8J3	81168	broad.mit.edu	37	11	55904431	55904431	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55904431A>C	ENST00000301529.1	-	1	763	c.764T>G	c.(763-765)aTg>aGg	p.M255R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATAAATAGCATTGTCCCATA	0.428																																							uc010riz.1		NA																	0				skin(2)	2						c.(763-765)ATG>AGG		olfactory receptor, family 8, subfamily J,							139.0	132.0	134.0					11																	55904431		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904431A>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.764T>G	11.37:g.55904431A>C	ENSP00000301529:p.Met255Arg						p.M255R	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	764	-	Esophageal squamous(21;0.00693)		255			Helical; Name=6; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.764T>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	0.750	-0.773150	0.02951	.	.	ENSG00000167822	ENST00000301529	T	0.00091	8.74	3.27	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.126932	0.36002	N	0.002845	T	0.00109	0.0003	L	0.35542	1.07	0.09310	N	1	B	0.12630	0.006	B	0.23574	0.047	T	0.33548	-0.9864	10	0.72032	D	0.01	.	7.0324	0.24975	0.7929:0.0:0.2071:0.0	.	255	Q8NGG0	OR8J3_HUMAN	R	255	ENSP00000301529:M255R	ENSP00000301529:M255R	M	-	2	0	OR8J3	55661007	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.038000	0.12144	0.285000	0.22329	-0.781000	0.03364	ATG		0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		10	74	0	0	0	0.008291	0	10	74				
OR8H1	219469	broad.mit.edu	37	11	56057627	56057627	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:56057627C>G	ENST00000313022.2	-	1	939	c.912G>C	c.(910-912)atG>atC	p.M304I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTCTTCTCTGCATGACTCTAA	0.348																																							uc010rje.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(910-912)ATG>ATC		olfactory receptor, family 8, subfamily H,							89.0	101.0	97.0					11																	56057627		2201	4295	6496	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057627C>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.912G>C	11.37:g.56057627C>G	ENSP00000323595:p.Met304Ile						p.M304I	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	912	-	Esophageal squamous(21;0.00448)		304			Cytoplasmic (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.912G>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	1.021	-0.684840	0.03328	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.35236	1.32	3.71	0.342	0.15996	.	0.308619	0.26907	N	0.021887	T	0.09774	0.0240	N	0.01410	-0.885	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.13470	T	0.59	.	5.747	0.18126	0.365:0.536:0.0:0.099	.	304	Q8NGG4	OR8H1_HUMAN	I	304;300	ENSP00000323595:M304I	ENSP00000323595:M304I	M	-	3	0	OR8H1	55814203	0.000000	0.05858	0.001000	0.08648	0.269000	0.26545	-0.342000	0.07801	-0.053000	0.13289	0.446000	0.29264	ATG		0.348	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		25	89	0	0	0	0.003954	0	25	89				
OR5R1	219479	broad.mit.edu	37	11	56185245	56185245	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:56185245A>C	ENST00000312253.1	-	1	463	c.464T>G	c.(463-465)gTt>gGt	p.V155G		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	155						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAAGAGGGCAACCAGGAAGCT	0.453																																							uc010rji.1		NA																	0				ovary(2)	2						c.(463-465)GTT>GGT		olfactory receptor, family 5, subfamily R,							112.0	113.0	113.0					11																	56185245		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185245A>C	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.464T>G	11.37:g.56185245A>C	ENSP00000308595:p.Val155Gly						p.V155G	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	464	-	Esophageal squamous(21;0.00448)		155			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.464T>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	A	9.405	1.078941	0.20227	.	.	ENSG00000174942	ENST00000312253	T	0.38240	1.15	5.91	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30043	U	0.010549	T	0.44582	0.1300	L	0.38953	1.18	0.09310	N	1	D	0.60160	0.987	D	0.72075	0.976	T	0.24905	-1.0147	10	0.18710	T	0.47	-11.8723	10.9404	0.47270	0.7539:0.0:0.0:0.2461	.	155	Q8NH85	OR5R1_HUMAN	G	155	ENSP00000308595:V155G	ENSP00000308595:V155G	V	-	2	0	OR5R1	55941821	0.000000	0.05858	0.222000	0.23844	0.019000	0.09904	0.788000	0.26872	2.265000	0.75225	0.472000	0.43445	GTT		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		11	107	0	0	0	0.010729	0	11	107				
OR5M10	390167	broad.mit.edu	37	11	56345057	56345057	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:56345057C>A	ENST00000526812.2	-	1	206	c.141G>T	c.(139-141)ctG>ctT	p.L47L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCTGATCAGCAGGATCATGC	0.468																																							uc001niz.1		NA																	0					0						c.(139-141)CTG>CTT		olfactory receptor, family 5, subfamily M,							160.0	156.0	157.0					11																	56345057		1970	4162	6132	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345057C>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.141G>T	11.37:g.56345057C>A							p.L47L	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	141	-			47			Cytoplasmic (Potential).		B9EIL9	Silent	SNP	ENST00000526812.2	37	c.141G>T	CCDS53630.1																																																																																				0.468	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		32	66	1	0	2.08457e-15	0.010818	3.63836e-15	32	66				
OR5M10	390167	broad.mit.edu	37	11	56345131	56345131	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:56345131G>C	ENST00000526812.2	-	1	132	c.67C>G	c.(67-69)Cta>Gta	p.L23V		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCTTCTCTAGCACTGGGTCG	0.463																																							uc001niz.1		NA																	0					0						c.(67-69)CTA>GTA		olfactory receptor, family 5, subfamily M,							167.0	157.0	160.0					11																	56345131		1923	4137	6060	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345131G>C	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.67C>G	11.37:g.56345131G>C	ENSP00000436004:p.Leu23Val						p.L23V	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	67	-			23			Extracellular (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.67C>G	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252338	0.39797	.	.	ENSG00000254834	ENST00000526812	T	0.04970	3.52	3.91	-0.241	0.13043	.	.	.	.	.	T	0.10208	0.0250	L	0.59912	1.85	0.09310	N	1	D	0.54964	0.969	P	0.48770	0.589	T	0.19844	-1.0293	9	0.51188	T	0.08	.	7.8945	0.29697	0.4561:0.0:0.5439:0.0	.	23	Q6IEU7	OR5MA_HUMAN	V	23	ENSP00000436004:L23V	ENSP00000436004:L23V	L	-	1	2	OR5M10	56101707	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.224000	0.09164	-0.138000	0.11434	0.539000	0.68188	CTA		0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		21	81	0	0	0	0.012319	0	21	81				
OR9G1	390174	broad.mit.edu	37	11	56468178	56468178	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:56468178G>T	ENST00000312153.1	+	1	315	c.315G>T	c.(313-315)ggG>ggT	p.G105G		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCTCTGCAGGGCTGGCCTATA	0.532																																							uc010rjn.1		NA																	0					0						c.(313-315)GGG>GGT		olfactory receptor, family 9, subfamily G,							115.0	111.0	112.0					11																	56468178		2201	4296	6497	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468178G>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.315G>T	11.37:g.56468178G>T							p.G105G	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	315	+			105			Helical; Name=3; (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.315G>T	CCDS31536.1																																																																																				0.532	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		12	96	1	0	9.31168e-06	0.001855	1.16912e-05	12	96				
OR9G4	283189	broad.mit.edu	37	11	56511071	56511071	+	Missense_Mutation	SNP	G	G	T	rs577599973		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:56511071G>T	ENST00000302957.3	-	1	216	c.217C>A	c.(217-219)Cct>Act	p.P73T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAGTACATAGGTGTATGCAAG	0.408																																							uc010rjo.1		NA																	0				ovary(2)|skin(1)	3						c.(217-219)CCT>ACT		olfactory receptor, family 9, subfamily G,							97.0	96.0	96.0					11																	56511071		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511071G>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.217C>A	11.37:g.56511071G>T	ENSP00000307515:p.Pro73Thr						p.P73T	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	217	-			73			Helical; Name=2; (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.217C>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939816	0.52972	.	.	ENSG00000172457	ENST00000302957	T	0.02032	4.49	5.3	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001421	T	0.18800	0.0451	H	0.97158	3.95	0.44309	D	0.99718	D	0.89917	1.0	D	0.85130	0.997	T	0.02226	-1.1192	10	0.72032	D	0.01	-20.1736	10.0061	0.41957	0.0761:0.1385:0.7854:0.0	.	73	Q8NGQ1	OR9G4_HUMAN	T	73	ENSP00000307515:P73T	ENSP00000307515:P73T	P	-	1	0	OR9G4	56267647	1.000000	0.71417	0.648000	0.29521	0.615000	0.37417	5.490000	0.66881	0.782000	0.33613	0.643000	0.83706	CCT		0.408	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		10	33	1	0	0.00621372	0.006214	0.00666455	10	33				
OR5AK2	390181	broad.mit.edu	37	11	56756798	56756798	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:56756798C>T	ENST00000326855.2	+	1	452	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTAATCATGTCCCGAACAGTC	0.443																																							uc010rjp.1		NA																	0				ovary(3)	3						c.(409-411)TCC>TTC		olfactory receptor, family 5, subfamily AK,							178.0	149.0	158.0					11																	56756798		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756798C>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.410C>T	11.37:g.56756798C>T	ENSP00000322784:p.Ser137Phe						p.S137F	NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN			1	410	+			137			Helical; Name=4; (Potential).		B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.410C>T	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529436	0.27387	.	.	ENSG00000181273	ENST00000326855	T	0.42131	0.98	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001135	T	0.67822	0.2934	M	0.92784	3.345	0.29746	N	0.836735	D	0.89917	1.0	D	0.67900	0.954	T	0.69518	-0.5124	10	0.87932	D	0	-43.2633	10.4187	0.44338	0.0:0.6749:0.3251:0.0	.	137	Q8NH90	O5AK2_HUMAN	F	137	ENSP00000322784:S137F	ENSP00000322784:S137F	S	+	2	0	OR5AK2	56513374	0.445000	0.25657	0.910000	0.35882	0.054000	0.15201	1.566000	0.36396	2.142000	0.66516	0.194000	0.17425	TCC		0.443	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		12	67	0	0	0	0.010729	0	12	67				
TNKS1BP1	85456	broad.mit.edu	37	11	57076401	57076401	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:57076401C>A	ENST00000532437.1	-	5	4095	c.3784G>T	c.(3784-3786)Ggt>Tgt	p.G1262C	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1262C			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1262	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTCCACACCTGACCAGTCA	0.582																																							uc001njr.2		NA																	0				skin(1)	1						c.(3784-3786)GGT>TGT		tankyrase 1-binding protein 1							138.0	139.0	139.0					11																	57076401		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076401C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3784G>T	11.37:g.57076401C>A	ENSP00000437271:p.Gly1262Cys					TNKS1BP1_uc001njs.2_Missense_Mutation_p.G1262C|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G713C	p.G1262C	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	4096	-		all_epithelial(135;0.21)	1262			Gly-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3784G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052611	0.36181	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.38240	1.15;1.15	5.2	3.31	0.37934	.	0.378742	0.22779	N	0.055742	T	0.48223	0.1488	L	0.54323	1.7	0.09310	N	1	D	0.69078	0.997	D	0.63192	0.912	T	0.28681	-1.0036	10	0.87932	D	0	-9.6254	8.8128	0.34978	0.0:0.7597:0.0:0.2403	.	1262	Q9C0C2	TB182_HUMAN	C	1262	ENSP00000350990:G1262C;ENSP00000437271:G1262C	ENSP00000350990:G1262C	G	-	1	0	TNKS1BP1	56832977	0.014000	0.17966	0.315000	0.25238	0.405000	0.30901	1.618000	0.36954	1.207000	0.43291	0.462000	0.41574	GGT		0.582	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		42	136	1	0	1.15505e-17	0.009718	2.07567e-17	42	136				
PRG3	10394	broad.mit.edu	37	11	57145281	57145281	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:57145281T>A	ENST00000287143.2	-	5	645	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GTGGCTCCCATCAGTCCAGCA	0.562																																					Melanoma(154;1456 2519 19358 45229)	Melanoma(154;1456 2519 19358 45229)	uc001njv.1		NA																	0					0						c.(535-537)GAT>GTT		proteoglycan 3 precursor							59.0	51.0	54.0					11																	57145281		2200	4294	6494	SO:0001583	missense	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57145281T>A	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.536A>T	11.37:g.57145281T>A	ENSP00000287143:p.Asp179Val						p.D179V	NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN			5	646	-			179			C-type lectin.		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.536A>T	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908732	0.72868	.	.	ENSG00000156575	ENST00000287143	T	0.59502	0.26	5.0	5.0	0.66597	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000019	D	0.84051	0.5387	H	0.98629	4.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.88900	0.3352	10	0.87932	D	0	-25.6362	11.3734	0.49713	0.0:0.0:0.0:1.0	.	179	Q9Y2Y8	PRG3_HUMAN	V	179	ENSP00000287143:D179V	ENSP00000287143:D179V	D	-	2	0	PRG3	56901857	0.748000	0.28294	0.733000	0.30861	0.203000	0.24098	3.640000	0.54350	2.003000	0.58678	0.459000	0.35465	GAT		0.562	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		6	26	0	0	0	0.001984	0	6	26				
OR9Q1	219956	broad.mit.edu	37	11	57947257	57947257	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:57947257T>A	ENST00000335397.3	+	3	657	c.341T>A	c.(340-342)cTc>cAc	p.L114H		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GACTGCTACCTCTTGGCCCTC	0.557																																							uc001nmj.2		NA																	0				ovary(1)	1						c.(340-342)CTC>CAC		olfactory receptor, family 9, subfamily Q,							122.0	97.0	106.0					11																	57947257		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947257T>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.341T>A	11.37:g.57947257T>A	ENSP00000334934:p.Leu114His						p.L114H	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	657	+		Breast(21;0.222)	114			Helical; Name=3; (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.341T>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399427	0.42512	.	.	ENSG00000186509	ENST00000335397	T	0.00594	6.33	4.93	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000454	T	0.04952	0.0133	H	0.97365	3.99	0.09310	N	0.999997	D	0.89917	1.0	D	0.74023	0.982	T	0.14448	-1.0472	10	0.87932	D	0	-31.2846	11.4029	0.49880	0.0:0.0:0.1516:0.8484	.	114	Q8NGQ5	OR9Q1_HUMAN	H	114	ENSP00000334934:L114H	ENSP00000334934:L114H	L	+	2	0	OR9Q1	57703833	0.920000	0.31207	0.940000	0.37924	0.465000	0.32709	4.935000	0.63498	0.985000	0.38656	0.459000	0.35465	CTC		0.557	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		13	60	0	0	0	0.001855	0	13	60				
OR5B3	441608	broad.mit.edu	37	11	58170407	58170407	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:58170407C>A	ENST00000309403.2	-	1	475	c.476G>T	c.(475-477)gGg>gTg	p.G159V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAATGTGTCCCCAGTGTGGAT	0.453																																							uc010rkf.1		NA																	0					0						c.(475-477)GGG>GTG		olfactory receptor, family 5, subfamily B,							112.0	104.0	107.0					11																	58170407		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170407C>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.476G>T	11.37:g.58170407C>A	ENSP00000308270:p.Gly159Val						p.G159V	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	476	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	159			Extracellular (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.476G>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	1.424	-0.572166	0.03882	.	.	ENSG00000172769	ENST00000309403	T	0.34472	1.36	4.05	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.432979	0.19665	N	0.108894	T	0.23688	0.0573	N	0.25825	0.765	0.09310	N	0.999991	B	0.21225	0.053	B	0.32724	0.151	T	0.30268	-0.9984	10	0.15952	T	0.53	-0.3441	6.8673	0.24100	0.3211:0.3644:0.3145:0.0	.	159	Q8NH48	OR5B3_HUMAN	V	159	ENSP00000308270:G159V	ENSP00000308270:G159V	G	-	2	0	OR5B3	57926983	0.000000	0.05858	0.001000	0.08648	0.116000	0.19942	-0.289000	0.08365	0.397000	0.25310	0.650000	0.86243	GGG		0.453	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		19	50	1	0	0.00152264	0.010504	0.00168193	19	50				
OR5A1	219982	broad.mit.edu	37	11	59210894	59210894	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:59210894C>A	ENST00000302030.2	+	1	278	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCCCAATATGCTCACTGACTT	0.478																																							uc001nnx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(253-255)CTC>ATC		olfactory receptor, family 5, subfamily A,							129.0	125.0	126.0					11																	59210894		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210894C>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.253C>A	11.37:g.59210894C>A	ENSP00000303096:p.Leu85Ile						p.L85I	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	253	+			85			Extracellular (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.253C>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198523	0.58126	.	.	ENSG00000172320	ENST00000302030	T	0.00364	7.81	5.76	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000304	T	0.00754	0.0025	M	0.64170	1.965	0.31163	N	0.704098	D	0.76494	0.999	D	0.85130	0.997	T	0.44802	-0.9304	10	0.66056	D	0.02	-40.0238	10.6958	0.45899	0.0:0.846:0.0:0.154	.	85	Q8NGJ0	OR5A1_HUMAN	I	85	ENSP00000303096:L85I	ENSP00000303096:L85I	L	+	1	0	OR5A1	58967470	0.724000	0.28038	0.997000	0.53966	0.962000	0.63368	0.517000	0.22832	1.445000	0.47624	-0.142000	0.14014	CTC		0.478	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		11	101	1	0	4.68919e-08	0.008291	6.60997e-08	11	101				
OR5A1	219982	broad.mit.edu	37	11	59211169	59211169	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:59211169C>A	ENST00000302030.2	+	1	553	c.528C>A	c.(526-528)atC>atA	p.I176I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GACCCAACATCATCAACCACT	0.537																																							uc001nnx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(526-528)ATC>ATA		olfactory receptor, family 5, subfamily A,							263.0	256.0	258.0					11																	59211169		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211169C>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.528C>A	11.37:g.59211169C>A							p.I176I	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	528	+			176			Extracellular (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.528C>A	CCDS31561.1																																																																																				0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		100	161	1	0	5.25376e-55	0.00361	1.02307e-54	100	161				
MS4A4A	51338	broad.mit.edu	37	11	60070044	60070044	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:60070044C>A	ENST00000337908.4	+	5	490	c.400C>A	c.(400-402)Cta>Ata	p.L134I	MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000355131.3_Missense_Mutation_p.L115I|MS4A4A_ENST00000395016.3_Missense_Mutation_p.L115I	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	134						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCGAGGTAGTCTAGGAATGAA	0.388																																							uc001noz.2		NA																	0					0						c.(400-402)CTA>ATA		membrane-spanning 4-domains, subfamily A, member							150.0	130.0	137.0					11																	60070044		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60070044C>A	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.400C>A	11.37:g.60070044C>A	ENSP00000338648:p.Leu134Ile					MS4A4A_uc001npa.2_Missense_Mutation_p.L115I|MS4A4A_uc001npb.2_Missense_Mutation_p.L115I|MS4A4A_uc001npc.2_Intron	p.L134I	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			5	410	+			134			Cytoplasmic (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.400C>A	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921780	0.52653	.	.	ENSG00000110079	ENST00000337908;ENST00000355131;ENST00000395016	T;T;T	0.03242	4.0;4.0;4.0	3.12	3.12	0.35913	.	0.097270	0.42682	D	0.000675	T	0.13841	0.0335	M	0.83692	2.655	0.09310	N	0.999997	D	0.67145	0.996	P	0.60345	0.873	T	0.01648	-1.1304	10	0.49607	T	0.09	-9.7394	9.9611	0.41697	0.0:1.0:0.0:0.0	.	134	Q96JQ5	M4A4A_HUMAN	I	134;115;115	ENSP00000338648:L134I;ENSP00000347252:L115I;ENSP00000378462:L115I	ENSP00000338648:L134I	L	+	1	2	MS4A4A	59826620	0.383000	0.25156	0.062000	0.19696	0.179000	0.23085	0.896000	0.28377	2.016000	0.59253	0.467000	0.42956	CTA		0.388	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			8	44	1	0	5.18039e-06	0.00308	6.58689e-06	8	44				
ZP1	22917	broad.mit.edu	37	11	60637239	60637239	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:60637239T>C	ENST00000278853.5	+	3	548	c.548T>C	c.(547-549)cTg>cCg	p.L183P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	183					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCAGCCCACTGGACCCAGGG	0.632																																							uc001nqd.2		NA																	0					0						c.(547-549)CTG>CCG		zona pellucida glycoprotein 1 precursor							74.0	79.0	77.0					11																	60637239		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637239T>C	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.548T>C	11.37:g.60637239T>C	ENSP00000278853:p.Leu183Pro					ZP1_uc001nqe.2_5'Flank	p.L183P	NM_207341	NP_997224	P60852	ZP1_HUMAN			3	568	+			183			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000278853.5	37	c.548T>C	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	T	9.503	1.103830	0.20632	.	.	ENSG00000149506	ENST00000278853	T	0.23950	1.88	3.35	0.923	0.19413	.	1.271680	0.06579	N	0.750029	T	0.20414	0.0491	L	0.44542	1.39	0.19575	N	0.999961	B	0.16802	0.019	B	0.15870	0.014	T	0.30387	-0.9980	10	0.32370	T	0.25	-1.1866	4.687	0.12762	0.0:0.2971:0.0:0.7029	.	183	P60852	ZP1_HUMAN	P	183	ENSP00000278853:L183P	ENSP00000278853:L183P	L	+	2	0	ZP1	60393815	0.000000	0.05858	0.003000	0.11579	0.152000	0.21847	-0.237000	0.08990	0.290000	0.22444	0.377000	0.23210	CTG		0.632	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		4	23	0	0	0	0.000602	0	4	23				
PPP1R32	220004	broad.mit.edu	37	11	61249829	61249829	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:61249829C>A	ENST00000338608.2	+	3	281	c.156C>A	c.(154-156)ggC>ggA	p.G52G	PPP1R32_ENST00000432063.2_Silent_p.G52G|RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	52							phosphatase binding (GO:0019902)										TAGGCACCGGCTACAAATCAA	0.607											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001nru.1		NA																	0				ovary(1)	1						c.(154-156)GGC>GGA		IIIG9 protein							60.0	63.0	62.0					11																	61249829		2202	4299	6501	SO:0001819	synonymous_variant	220004							g.chr11:61249829C>A	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.156C>A	11.37:g.61249829C>A			OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	C11orf66_uc009ynq.1_Silent_p.G52G	p.G52G	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN			3	281	+			52					Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	c.156C>A	CCDS8008.1																																																																																				0.607	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		12	37	1	0	0.000978159	0.010729	0.00109184	12	37				
SLC22A8	9376	broad.mit.edu	37	11	62763239	62763239	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:62763239G>T	ENST00000336232.2	-	7	1073	c.938C>A	c.(937-939)aCc>aAc	p.T313N	SLC22A8_ENST00000311438.8_Missense_Mutation_p.T313N|SLC22A8_ENST00000535878.1_Missense_Mutation_p.T190N|SLC22A8_ENST00000430500.2_Missense_Mutation_p.T313N|SLC22A8_ENST00000545207.1_Missense_Mutation_p.T222N|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	313					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GTCACTTGCGGTGTACTTGGC	0.597																																							uc001nwo.2		NA																	0				skin(2)|ovary(1)	3						c.(937-939)ACC>AAC		solute carrier family 22 member 8							171.0	156.0	161.0					11																	62763239		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62763239G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.938C>A	11.37:g.62763239G>T	ENSP00000337335:p.Thr313Asn					SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.T313N|SLC22A8_uc009yom.2_Missense_Mutation_p.T190N|SLC22A8_uc010rmm.1_Missense_Mutation_p.T222N|SLC22A8_uc009yon.2_Missense_Mutation_p.T313N	p.T313N	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			7	1074	-			313			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.938C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	8.280	0.815272	0.16607	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.21	2.25	0.28309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.518379	0.20321	N	0.094626	T	0.58906	0.2155	N	0.26162	0.8	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.18561	0.013;0.022	T	0.51068	-0.8752	10	0.54805	T	0.06	.	7.3848	0.26876	0.0:0.5803:0.3299:0.0899	.	313;313	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	N	313;299;222;190;313;313	ENSP00000337335:T313N;ENSP00000441658:T222N;ENSP00000443368:T190N;ENSP00000311463:T313N;ENSP00000398548:T313N	ENSP00000311463:T313N	T	-	2	0	SLC22A8	62519815	0.795000	0.28851	0.133000	0.22050	0.318000	0.28184	0.950000	0.29122	0.194000	0.20326	-0.565000	0.04167	ACC		0.597	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		12	129	1	0	2.68362e-12	0.001368	4.34905e-12	12	129				
SLC22A8	9376	broad.mit.edu	37	11	62766429	62766429	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:62766429A>T	ENST00000336232.2	-	5	860	c.725T>A	c.(724-726)gTg>gAg	p.V242E	SLC22A8_ENST00000311438.8_Missense_Mutation_p.V242E|SLC22A8_ENST00000535878.1_Missense_Mutation_p.V119E|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V242E|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V151E|SLC22A8_ENST00000542795.1_5'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	242					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGAATGGACACAGTTAACTG	0.562																																							uc001nwo.2		NA																	0				skin(2)|ovary(1)	3						c.(724-726)GTG>GAG		solute carrier family 22 member 8							121.0	111.0	114.0					11																	62766429		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62766429A>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.725T>A	11.37:g.62766429A>T	ENSP00000337335:p.Val242Glu					SLC22A8_uc001nwn.1_Missense_Mutation_p.V33E|SLC22A8_uc001nwp.2_Missense_Mutation_p.V242E|SLC22A8_uc009yom.2_Missense_Mutation_p.V119E|SLC22A8_uc010rmm.1_Missense_Mutation_p.V151E|SLC22A8_uc009yon.2_Missense_Mutation_p.V242E	p.V242E	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			5	861	-			242			Helical; (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.725T>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951523	0.53186	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	4.88	1.03	0.20045	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.418181	0.25296	N	0.031698	D	0.82651	0.5083	H	0.95004	3.61	0.34507	D	0.706673	P;D;D	0.53151	0.949;0.958;0.958	P;P;P	0.59889	0.845;0.865;0.865	T	0.82291	-0.0530	10	0.87932	D	0	.	4.3806	0.11291	0.5664:0.1642:0.2693:0.0	.	242;242;242	Q8TCC7-2;Q8TCC7;B2R807	.;S22A8_HUMAN;.	E	242;228;151;119;242;242	ENSP00000337335:V242E;ENSP00000441658:V151E;ENSP00000443368:V119E;ENSP00000311463:V242E;ENSP00000398548:V242E	ENSP00000311463:V242E	V	-	2	0	SLC22A8	62523005	0.065000	0.20965	0.004000	0.12327	0.705000	0.40729	2.783000	0.47766	-0.081000	0.12662	0.454000	0.30748	GTG		0.562	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		10	51	0	0	0	0.006214	0	10	51				
CDC42BPG	55561	broad.mit.edu	37	11	64596949	64596950	+	Missense_Mutation	DNP	CC	CC	GA	rs369229353|rs564259637		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:64596949_64596950CC>GA	ENST00000342711.5	-	30	3959_3960	c.3960_3961GG>TC	c.(3958-3963)atGGgc>atTCgc	p.1320_1321MG>IR	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TTACCCCAGCCCATGGGCGCTG	0.639																																							uc001obs.3		NA																	0				lung(3)|central_nervous_system(1)	4						c.(3958-3963)ATGGGC>ATTCGC		CDC42 binding protein kinase gamma (DMPK-like)																																				SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64596949_64596950CC>GA	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3960_3961delinsGA	11.37:g.64596949_64596950delinsGA	ENSP00000345133:p.M1320_G1321delinsIR						p.1320_1321MG>IR	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			30	3960_3961	-			1320_1321			CNH.			Missense_Mutation	DNP	ENST00000342711.5	37	c.3960_3961GG>TC	CCDS31601.1																																																																																				0.639	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		19	27	0	0	0	0.004672	0	19	27				
ALDH3B1	221	broad.mit.edu	37	11	67790069	67790069	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:67790069C>A	ENST00000539229.1	+	10	1066	c.950C>A	c.(949-951)aCg>aAg	p.T317K	RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.T281K|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.T317K|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	319					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GCAGCCCCCACGGTGCTGGTG	0.667																																							uc010rpy.1		NA																	0					0						c.(955-957)ACG>AAG		aldehyde dehydrogenase 3B1 isoform a	NADH(DB00157)						74.0	65.0	68.0					11																	67790069		2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67790069C>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.950C>A	11.37:g.67790069C>A	ENSP00000474034:p.Thr317Lys					ALDH3B1_uc001omz.2_Missense_Mutation_p.T319K|ALDH3B1_uc001ona.2_Missense_Mutation_p.T282K|ALDH3B1_uc001onb.2_RNA	p.T319K	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN			10	1072	+			319					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.956C>A																																																																																					0.667	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		19	27	1	0	5.35267e-07	0.007413	7.15935e-07	19	27				
MRGPRF	116535	broad.mit.edu	37	11	68777349	68777349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:68777349C>T	ENST00000309099.6	-	2	403	c.21G>A	c.(19-21)tgG>tgA	p.W7*	MRGPRF_ENST00000441623.1_Nonsense_Mutation_p.W7*|RP11-554A11.6_ENST00000569428.1_RNA|RP11-554A11.6_ENST00000569432.1_RNA|MRGPRF_ENST00000320913.6_Nonsense_Mutation_p.W7*|RP11-554A11.6_ENST00000538407.2_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	7						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GATGGGCCTCCCAGGAGCAGT	0.672																																							uc001ooo.3		NA																	0					0						c.(19-21)TGG>TGA		MAS-related GPR, member F							77.0	68.0	71.0					11																	68777349		2200	4294	6494	SO:0001587	stop_gained	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68777349C>T	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.21G>A	11.37:g.68777349C>T	ENSP00000309782:p.Trp7*					MRGPRF_uc001oop.3_Nonsense_Mutation_p.W7*|uc001ooq.2_5'Flank	p.W7*	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		2	388	-			7			Extracellular (Potential).		B3KV43|Q8NBK8	Nonsense_Mutation	SNP	ENST00000309099.6	37	c.21G>A	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230094	0.95207	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543;ENST00000320913	.	.	.	3.57	2.65	0.31530	.	0.195629	0.25677	N	0.029040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.59	7.0061	0.24838	0.0:0.8717:0.0:0.1283	.	.	.	.	X	7	.	ENSP00000309782:W7X	W	-	3	0	MRGPRF	68533925	1.000000	0.71417	0.995000	0.50966	0.879000	0.50718	3.268000	0.51585	0.862000	0.35528	0.456000	0.33151	TGG		0.672	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		10	39	0	0	0	0.006214	0	10	39				
ANO1	55107	broad.mit.edu	37	11	70007788	70007788	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:70007788A>G	ENST00000355303.5	+	18	2146	c.1841A>G	c.(1840-1842)aAg>aGg	p.K614R	ANO1_ENST00000531349.1_Missense_Mutation_p.K323R|ANO1_ENST00000538023.1_Missense_Mutation_p.K614R|ANO1_ENST00000530676.1_Missense_Mutation_p.K468R|ANO1_ENST00000398543.2_Missense_Mutation_p.K468R|ANO1_ENST00000316296.5_Missense_Mutation_p.K556R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	614					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TTCCTGCTGAAGTTTGTGAAT	0.537																																							uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1840-1842)AAG>AGG		anoctamin 1, calcium activated chloride channel							198.0	205.0	203.0					11																	70007788		1945	4134	6079	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007788A>G	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1841A>G	11.37:g.70007788A>G	ENSP00000347454:p.Lys614Arg					ANO1_uc001opk.1_Missense_Mutation_p.K556R|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.K323R	p.K614R	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			18	2146	+			614			Helical; (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1841A>G	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700629	0.68501	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	L	0.60012	1.86	0.80722	D	1	B;B;B	0.28783	0.222;0.003;0.046	B;B;B	0.33750	0.168;0.008;0.169	T	0.58504	-0.7625	9	.	.	.	.	14.7301	0.69374	1.0:0.0:0.0:0.0	.	323;556;614	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	R	614;614;468;372;556;468;323	ENSP00000347454:K614R;ENSP00000444689:K614R;ENSP00000381551:K468R;ENSP00000319477:K556R;ENSP00000435797:K468R;ENSP00000432843:K323R	.	K	+	2	0	ANO1	69685436	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.793000	0.91862	1.888000	0.54679	0.459000	0.35465	AAG		0.537	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		24	107	0	0	0	0.00278	0	24	107				
ARHGEF17	9828	broad.mit.edu	37	11	73066625	73066625	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:73066625C>A	ENST00000263674.3	+	4	3851	c.3501C>A	c.(3499-3501)aaC>aaA	p.N1167K	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1167	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATATCGATAACTTCCTCAATG	0.552																																							uc001otu.2		NA																	0					0						c.(3499-3501)AAC>AAA		Rho guanine nucleotide exchange factor (GEF) 17							131.0	111.0	118.0					11																	73066625		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73066625C>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3501C>A	11.37:g.73066625C>A	ENSP00000263674:p.Asn1167Lys						p.N1167K	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			4	3522	+			1167			DH.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.3501C>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168499	0.57584	.	.	ENSG00000110237	ENST00000263674	T	0.73469	-0.75	6.07	3.17	0.36434	Dbl homology (DH) domain (5);	0.045148	0.85682	D	0.000000	D	0.83566	0.5282	M	0.79258	2.445	0.50171	D	0.999859	D	0.89917	1.0	D	0.79784	0.993	T	0.82484	-0.0434	10	0.87932	D	0	-33.897	8.5771	0.33605	0.0:0.6936:0.0:0.3064	.	1167	Q96PE2	ARHGH_HUMAN	K	1167	ENSP00000263674:N1167K	ENSP00000263674:N1167K	N	+	3	2	ARHGEF17	72744273	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	1.220000	0.32491	0.429000	0.26202	-0.133000	0.14855	AAC		0.552	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		12	43	1	0	3.07112e-06	0.010729	3.94924e-06	12	43				
MYO7A	4647	broad.mit.edu	37	11	76867736	76867736	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:76867736C>A	ENST00000409709.3	+	6	773	c.501C>A	c.(499-501)agC>agA	p.S167R	MYO7A_ENST00000458637.2_Missense_Mutation_p.S167R|MYO7A_ENST00000409893.1_Missense_Mutation_p.S167R|MYO7A_ENST00000409619.2_Missense_Mutation_p.S156R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	167	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGACGGAGAGCACAAAGCTGA	0.612																																							uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(499-501)AGC>AGA		myosin VIIA isoform 1							73.0	84.0	80.0					11																	76867736		2119	4216	6335	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76867736C>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.501C>A	11.37:g.76867736C>A	ENSP00000386331:p.Ser167Arg					MYO7A_uc010rsl.1_Missense_Mutation_p.S167R|MYO7A_uc010rsm.1_Missense_Mutation_p.S156R|MYO7A_uc001oyc.2_Missense_Mutation_p.S167R	p.S167R	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			6	773	+			167			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.501C>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.293078	0.80914	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.95	4.04	0.47022	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95683	0.8596	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.984;0.98	D	0.96446	0.9330	10	0.87932	D	0	.	13.1812	0.59655	0.0:0.9236:0.0:0.0764	.	167;167;167	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	167;167;167;156;166;166;166;166	ENSP00000386331:S167R;ENSP00000386689:S167R;ENSP00000392185:S167R;ENSP00000386635:S156R	ENSP00000345075:S166R	S	+	3	2	MYO7A	76545384	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.526000	0.45607	1.300000	0.44818	0.651000	0.88453	AGC		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		36	39	1	0	5.8336e-16	0.003271	1.02344e-15	36	39				
FAT3	120114	broad.mit.edu	37	11	92086959	92086959	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:92086959G>A	ENST00000298047.6	+	1	1698	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	FAT3_ENST00000409404.2_Missense_Mutation_p.E561K|FAT3_ENST00000525166.1_Missense_Mutation_p.E411K|FAT3_ENST00000541502.1_Missense_Mutation_p.E561K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATGAAAGTGAGGTCAATGT	0.423										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(1681-1683)GAG>AAG		FAT tumor suppressor homolog 3							82.0	82.0	82.0					11																	92086959		1854	4103	5957	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086959G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1681G>A	11.37:g.92086959G>A	ENSP00000298047:p.Glu561Lys	TCGA Ovarian(4;0.039)					p.E561K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1698	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	561			Cadherin 5.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.1681G>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.975303	0.74360	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.82	5.82	0.92795	.	.	.	.	.	T	0.58075	0.2097	N	0.21545	0.675	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.59558	-0.7432	9	0.54805	T	0.06	.	19.0792	0.93175	0.0:0.0:1.0:0.0	.	561	Q8TDW7-3	.	K	561;561;561;411	ENSP00000298047:E561K;ENSP00000387040:E561K;ENSP00000443786:E561K;ENSP00000432586:E411K	ENSP00000298047:E561K	E	+	1	0	FAT3	91726607	1.000000	0.71417	0.998000	0.56505	0.673000	0.39480	9.787000	0.99055	2.755000	0.94549	0.591000	0.81541	GAG		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	62	0	0	0	0.008291	0	11	62				
FAT3	120114	broad.mit.edu	37	11	92258098	92258098	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:92258098C>A	ENST00000298047.6	+	2	3608	c.3591C>A	c.(3589-3591)gcC>gcA	p.A1197A	FAT3_ENST00000409404.2_Silent_p.A1197A|FAT3_ENST00000525166.1_Silent_p.A1047A|FAT3_ENST00000541502.1_Silent_p.A1197A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1197	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTTTTTGCCATCAATATCA	0.373										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(3589-3591)GCC>GCA		FAT tumor suppressor homolog 3							39.0	39.0	39.0					11																	92258098		1829	4099	5928	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92258098C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3591C>A	11.37:g.92258098C>A		TCGA Ovarian(4;0.039)					p.A1197A	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			2	3608	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1197			Cadherin 11.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.3591C>A																																																																																					0.373	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	36	1	0	0.000157383	0.00308	0.000182879	8	36				
FAT3	120114	broad.mit.edu	37	11	92538504	92538504	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:92538504G>C	ENST00000298047.6	+	10	9099	c.9082G>C	c.(9082-9084)Gtg>Ctg	p.V3028L	FAT3_ENST00000409404.2_Missense_Mutation_p.V3028L|FAT3_ENST00000525166.1_Missense_Mutation_p.V2878L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3028	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATAGCCCAGTGTGTGATCA	0.428										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(9082-9084)GTG>CTG		FAT tumor suppressor homolog 3							57.0	57.0	57.0					11																	92538504		1948	4153	6101	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92538504G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9082G>C	11.37:g.92538504G>C	ENSP00000298047:p.Val3028Leu	TCGA Ovarian(4;0.039)					p.V3028L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			10	9099	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3028			Cadherin 27.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9082G>C		.	.	.	.	.	.	.	.	.	.	G	15.78	2.935685	0.52972	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02916	4.11;4.11;4.11	5.91	5.91	0.95273	.	.	.	.	.	T	0.05456	0.0144	M	0.64260	1.97	0.80722	D	1	B	0.26002	0.139	B	0.25140	0.058	T	0.44772	-0.9306	9	0.09843	T	0.71	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	3028	Q8TDW7-3	.	L	3028;3028;2878	ENSP00000298047:V3028L;ENSP00000387040:V3028L;ENSP00000432586:V2878L	ENSP00000298047:V3028L	V	+	1	0	FAT3	92178152	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.913000	0.56394	2.804000	0.96469	0.650000	0.86243	GTG		0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	17	0	0	0	0.00308	0	8	17				
HEPHL1	341208	broad.mit.edu	37	11	93834389	93834389	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:93834389C>G	ENST00000315765.9	+	14	2471	c.2463C>G	c.(2461-2463)aaC>aaG	p.N821K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	821	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGGTGGGCAACACCGTCCTGA	0.453																																							uc001pep.2		NA																	0				ovary(3)	3						c.(2461-2463)AAC>AAG		hephaestin-like 1 precursor							148.0	142.0	144.0					11																	93834389		1912	4118	6030	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93834389C>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2463C>G	11.37:g.93834389C>G	ENSP00000313699:p.Asn821Lys					uc001pen.1_Intron	p.N821K	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			14	2620	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	821			Plastocyanin-like 5.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2463C>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020104	0.19433	.	.	ENSG00000181333	ENST00000315765	D	0.98807	-5.15	5.55	3.7	0.42460	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.093201	0.64402	D	0.000001	D	0.93936	0.8059	N	0.03608	-0.345	0.26588	N	0.973257	B	0.06786	0.001	B	0.06405	0.002	D	0.88596	0.3146	10	0.72032	D	0.01	.	11.8022	0.52133	0.0:0.8586:0.0:0.1414	.	821	Q6MZM0	HPHL1_HUMAN	K	821	ENSP00000313699:N821K	ENSP00000313699:N821K	N	+	3	2	HEPHL1	93474037	0.334000	0.24739	0.990000	0.47175	0.006000	0.05464	0.662000	0.25038	0.716000	0.32124	-0.259000	0.10710	AAC		0.453	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		3	108	0	0	0	0.009096	0	3	108				
SESN3	143686	broad.mit.edu	37	11	94963990	94963990	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:94963990G>C	ENST00000536441.1	-	1	371	c.35C>G	c.(34-36)gCc>gGc	p.A12G	RP11-712B9.2_ENST00000540692.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.A12G|RP11-712B9.2_ENST00000543573.1_RNA|SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000543150.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.A12G	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	12					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CAGGTAGTTGGCGGCGGCCGA	0.751																																							uc001pfk.1		NA																	0					0						c.(34-36)GCC>GGC		sestrin 3							8.0	12.0	11.0					11																	94963990		2035	4058	6093	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94963990G>C	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.35C>G	11.37:g.94963990G>C	ENSP00000441927:p.Ala12Gly					SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Missense_Mutation_p.A12G	p.A12G	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	1	257	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	12					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.35C>G	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454454	0.43634	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495	T;T;T	0.24538	2.19;1.86;1.85	3.6	3.6	0.41247	.	1.037320	0.07669	N	0.935088	T	0.14270	0.0345	N	0.08118	0	0.30002	N	0.81594	B;B	0.18310	0.006;0.027	B;B	0.11329	0.006;0.004	T	0.10520	-1.0626	10	0.31617	T	0.26	-1.6023	8.9531	0.35801	0.0:0.2286:0.7713:0.0	.	12;12	P58005-3;P58005	.;SESN3_HUMAN	G	12	ENSP00000441927:A12G;ENSP00000376926:A12G;ENSP00000407008:A12G	ENSP00000376926:A12G	A	-	2	0	SESN3	94603638	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.762000	0.38451	1.837000	0.53436	0.561000	0.74099	GCC		0.751	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		5	15	0	0	0	0.000602	0	5	15				
MMP8	4317	broad.mit.edu	37	11	102586169	102586169	+	Splice_Site	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:102586169C>T	ENST00000236826.3	-	7	1001		c.e7-1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CCAGAAGTACCTAACGGAACA	0.418																																							uc001phe.2		NA																	0				ovary(3)|breast(1)	4						c.e7-1		matrix metalloproteinase 8 preproprotein							96.0	87.0	90.0					11																	102586169		2203	4299	6502	SO:0001630	splice_region_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102586169C>T	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.903-1G>A	11.37:g.102586169C>T						MMP8_uc010rut.1_Splice_Site_p.R236_splice|MMP8_uc010ruu.1_Splice_Site_p.R278_splice	p.R301_splice	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	7	1002	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						Q45F99	Splice_Site	SNP	ENST00000236826.3	37	c.903_splice	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880867	0.72294	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000438475;ENST00000534942	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9778	0.92745	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP8	102091379	1.000000	0.71417	0.995000	0.50966	0.779000	0.44077	6.602000	0.74141	2.567000	0.86603	0.650000	0.86243	.		0.418	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	Intron	16	9	0	0	0	0.003163	0	16	9				
CARD17	440068	broad.mit.edu	37	11	104970149	104970149	+	Splice_Site	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:104970149C>G	ENST00000375707.1	-	3	291		c.e3-1		CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17						regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GATGTTGGACCTAGAGAAAGA	0.393																																							uc001pir.1		NA																	0				ovary(1)	1						c.e3-1		caspase recruitment domain family, member 17							114.0	107.0	109.0					11																	104970149		2202	4299	6501	SO:0001630	splice_region_variant	440068				proteolysis|regulation of apoptosis	cytoplasm	cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity	g.chr11:104970149C>G		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.275-1G>C	11.37:g.104970149C>G						CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron	p.G92_splice	NM_001007232	NP_001007233	Q5XLA6	CAR17_HUMAN			3	292	-									Splice_Site	SNP	ENST00000375707.1	37	c.275_splice	CCDS31662.1	.	.	.	.	.	.	.	.	.	.	C	3.051	-0.195281	0.06259	.	.	ENSG00000255221	ENST00000375707	.	.	.	1.6	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.30361	N	0.783803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.625	0.22824	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CARD17	104475359	0.553000	0.26513	0.120000	0.21714	0.016000	0.09150	1.490000	0.35573	1.182000	0.42928	0.430000	0.28490	.		0.393	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232	Intron	13	27	0	0	0	0.001368	0	13	27				
BUD13	84811	broad.mit.edu	37	11	116633838	116633838	+	Missense_Mutation	SNP	C	C	G	rs370368913		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:116633838C>G	ENST00000260210.4	-	4	490	c.467G>C	c.(466-468)cGt>cCt	p.R156P	BUD13_ENST00000375445.3_Missense_Mutation_p.R156P	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	156	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGTGTCATGACGGGCCCTCCT	0.592																																							uc001ppn.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(466-468)CGT>CCT		BUD13 homolog isoform 1							98.0	105.0	103.0					11																	116633838		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116633838C>G	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.467G>C	11.37:g.116633838C>G	ENSP00000260210:p.Arg156Pro					BUD13_uc001ppo.2_Missense_Mutation_p.R156P|BUD13_uc009yzc.2_Missense_Mutation_p.R156P	p.R156P	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	501	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	156			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.467G>C	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342657	0.41498	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.28069	1.73;1.63	5.01	1.15	0.20763	.	0.101688	0.64402	D	0.000012	T	0.54598	0.1868	M	0.86864	2.845	0.49299	D	0.999774	D;D;D	0.76494	0.998;0.999;0.997	D;D;P	0.73380	0.931;0.98;0.878	T	0.55842	-0.8077	10	0.87932	D	0	-3.82	9.0976	0.36649	0.0:0.708:0.0:0.292	.	156;156;156	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	P	156	ENSP00000364594:R156P;ENSP00000260210:R156P	ENSP00000260210:R156P	R	-	2	0	BUD13	116139048	0.000000	0.05858	0.496000	0.27539	0.211000	0.24417	0.168000	0.16622	0.057000	0.16193	0.609000	0.83330	CGT		0.592	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		31	98	0	0	0	0.009535	0	31	98				
HYOU1	10525	broad.mit.edu	37	11	118916543	118916543	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:118916543C>A	ENST00000404233.3	-	25	3012	c.2888G>T	c.(2887-2889)gGa>gTa	p.G963V	HYOU1_ENST00000529972.1_Splice_Site_p.G901V|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Splice_Site_p.G901V	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	963					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TGGCTCGGATCCTGCTTTGGG	0.547																																							uc001puu.2		NA																	0					0						c.(2887-2889)GGA>GTA		hypoxia up-regulated 1 precursor							62.0	54.0	57.0					11																	118916543		2200	4295	6495	SO:0001630	splice_region_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118916543C>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2888-1G>T	11.37:g.118916543C>A						HYOU1_uc001put.2_Missense_Mutation_p.G929V|HYOU1_uc010ryu.1_Missense_Mutation_p.G921V|HYOU1_uc010ryv.1_Missense_Mutation_p.G852V|HYOU1_uc001pux.3_Missense_Mutation_p.G963V	p.G963V	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	25	3081	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	963					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.2888G>T	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217161	0.22373	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01369	4.98;4.97;4.97	5.41	1.37	0.22104	.	0.885835	0.09788	N	0.755734	T	0.01222	0.0040	L	0.36672	1.1	0.09310	N	0.999999	B;P;P;P	0.44195	0.124;0.828;0.454;0.454	B;B;B;B	0.36289	0.03;0.221;0.098;0.098	T	0.50363	-0.8837	10	0.28530	T	0.3	.	4.4869	0.11794	0.0:0.4798:0.1558:0.3644	.	955;945;963;963	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	V	963;955;901;812;901;944	ENSP00000384144:G963V;ENSP00000437313:G901V;ENSP00000433397:G901V	ENSP00000278752:G955V	G	-	2	0	HYOU1	118421753	0.095000	0.21747	0.080000	0.20451	0.031000	0.12232	0.042000	0.13949	0.099000	0.17552	0.655000	0.94253	GGA		0.547	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	Missense_Mutation	5	34	1	0	3.59834e-05	0.001168	4.39136e-05	5	34				
ARHGEF12	23365	broad.mit.edu	37	11	120350915	120350915	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:120350915G>T	ENST00000397843.2	+	38	4179	c.4013G>T	c.(4012-4014)cGg>cTg	p.R1338L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1319L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1235L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1338					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTGCTCCACGGGATTCAGTG	0.478			T	MLL	AML																																		uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(4012-4014)CGG>CTG		Rho guanine nucleotide exchange factor (GEF) 12							111.0	107.0	108.0					11																	120350915		1891	4108	5999	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120350915G>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4013G>T	11.37:g.120350915G>T	ENSP00000380942:p.Arg1338Leu					ARHGEF12_uc009zat.2_Missense_Mutation_p.R1319L|ARHGEF12_uc009zau.1_Missense_Mutation_p.R1235L	p.R1338L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	38	4020	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1338					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4013G>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015275	0.54468	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.67698	-0.17;-0.28;-0.16	5.65	-3.29	0.05017	.	0.962215	0.08512	N	0.934803	T	0.44286	0.1286	N	0.19112	0.55	0.20196	N	0.999921	B;B	0.26512	0.151;0.094	B;B	0.22601	0.04;0.018	T	0.23261	-1.0193	10	0.26408	T	0.33	0.0909	6.9515	0.24548	0.3865:0.2809:0.3326:0.0	.	1319;1338	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	L	1338;1319;1235	ENSP00000380942:R1338L;ENSP00000349056:R1319L;ENSP00000432984:R1235L	ENSP00000349056:R1319L	R	+	2	0	ARHGEF12	119856125	0.014000	0.17966	0.966000	0.40874	0.994000	0.84299	-0.042000	0.12063	-0.438000	0.07232	0.650000	0.86243	CGG		0.478	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		16	44	1	0	4.14922e-12	0.004007	6.67329e-12	16	44				
TECTA	7007	broad.mit.edu	37	11	121016361	121016361	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:121016361G>T	ENST00000392793.1	+	12	3912	c.3641G>T	c.(3640-3642)gGc>gTc	p.G1214V	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.G1214V			O75443	TECTA_HUMAN	tectorin alpha	1214	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACTGATTTTGGCCTGAAGGTT	0.517																																							uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(3640-3642)GGC>GTC		tectorin alpha precursor							179.0	158.0	165.0					11																	121016361		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016361G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3641G>T	11.37:g.121016361G>T	ENSP00000376543:p.Gly1214Val						p.G1214V	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3641	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1214			VWFD 3.			Missense_Mutation	SNP	ENST00000392793.1	37	c.3641G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035149	0.93575	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.61859	0.07;0.07	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	M	0.93763	3.455	0.80722	D	1	D	0.56521	0.976	P	0.58013	0.831	D	0.85384	0.1121	10	0.87932	D	0	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	1214	O75443	TECTA_HUMAN	V	1214	ENSP00000376543:G1214V;ENSP00000264037:G1214V	ENSP00000264037:G1214V	G	+	2	0	TECTA	120521571	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.827000	0.99397	2.779000	0.95612	0.591000	0.81541	GGC		0.517	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		7	101	1	0	8.12818e-05	0.001984	9.60912e-05	7	101				
C11orf63	79864	broad.mit.edu	37	11	122756812	122756812	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:122756812G>T	ENST00000531316.1	+	1	347	c.255G>T	c.(253-255)ctG>ctT	p.L85L	C11orf63_ENST00000227349.2_Silent_p.L85L|C11orf63_ENST00000307257.6_Silent_p.L85L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	85					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGGGAAGCCTGCACGAGATGG	0.532																																							uc001pym.2		NA																	0				ovary(3)	3						c.(253-255)CTG>CTT		hypothetical protein LOC79864 isoform 1							113.0	115.0	114.0					11																	122756812		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122756812G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.255G>T	11.37:g.122756812G>T						C11orf63_uc001pyl.1_Silent_p.L85L	p.L85L	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	552	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	85					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.255G>T	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		20	49	1	0	1.96292e-10	0.010504	3.00899e-10	20	49				
OR6M1	390261	broad.mit.edu	37	11	123676174	123676174	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:123676174T>A	ENST00000309154.2	-	1	921	c.884A>T	c.(883-885)cAg>cTg	p.Q295L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CAACACTTCCTGTACCTTCTC	0.408																																							uc010rzz.1		NA																	0				skin(2)	2						c.(883-885)CAG>CTG		olfactory receptor, family 6, subfamily M,							129.0	128.0	128.0					11																	123676174		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676174T>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.884A>T	11.37:g.123676174T>A	ENSP00000311038:p.Gln295Leu						p.Q295L	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	884	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	295			Cytoplasmic (Potential).		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.884A>T	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	T	8.367	0.834334	0.16820	.	.	ENSG00000196099	ENST00000309154	T	0.37235	1.21	3.48	3.48	0.39840	.	0.225617	0.22087	U	0.064814	T	0.22551	0.0544	N	0.20685	0.6	0.20563	N	0.999888	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	10	0.87932	D	0	.	8.285	0.31924	0.0:0.0:0.0:1.0	.	295	Q8NGM8	OR6M1_HUMAN	L	295	ENSP00000311038:Q295L	ENSP00000311038:Q295L	Q	-	2	0	OR6M1	123181384	0.000000	0.05858	0.743000	0.31040	0.239000	0.25481	0.155000	0.16362	1.432000	0.47375	0.533000	0.62120	CAG		0.408	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		6	44	0	0	0	0.001984	0	6	44				
OR4D5	219875	broad.mit.edu	37	11	123810330	123810330	+	Missense_Mutation	SNP	C	C	T	rs570618349		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:123810330C>T	ENST00000307033.2	+	1	81	c.7C>T	c.(7-9)Cca>Tca	p.P3S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCAGATGAATCCAGCAAATCA	0.418																																							uc001pzk.1		NA																	0				ovary(1)	1						c.(7-9)CCA>TCA		olfactory receptor, family 4, subfamily D,							84.0	84.0	84.0					11																	123810330		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810330C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.7C>T	11.37:g.123810330C>T	ENSP00000305970:p.Pro3Ser						p.P3S	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	7	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	3			Extracellular (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.7C>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.102378	0.01828	.	.	ENSG00000171014	ENST00000307033	T	0.02890	4.12	5.01	1.84	0.25277	.	0.639652	0.13788	N	0.362705	T	0.01387	0.0045	N	0.11000	0.08	0.26556	N	0.973824	B	0.20550	0.046	B	0.23275	0.045	T	0.47522	-0.9111	10	0.07644	T	0.81	-0.0271	2.9374	0.05819	0.1861:0.5338:0.1804:0.0997	.	3	Q8NGN0	OR4D5_HUMAN	S	3	ENSP00000305970:P3S	ENSP00000305970:P3S	P	+	1	0	OR4D5	123315540	0.000000	0.05858	0.919000	0.36401	0.534000	0.34807	-0.121000	0.10643	0.476000	0.27440	0.563000	0.77884	CCA		0.418	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		9	54	0	0	0	0.006214	0	9	54				
PKNOX2	63876	broad.mit.edu	37	11	125299986	125299986	+	Missense_Mutation	SNP	G	G	T	rs368519080		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:125299986G>T	ENST00000298282.9	+	12	1412	c.1141G>T	c.(1141-1143)Gct>Tct	p.A381S	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.A317S	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	381					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAACTCCATCGCTGCGGGGGT	0.627																																							uc001qbu.2		NA																	0				ovary(3)	3						c.(1141-1143)GCT>TCT		PBX/knotted 1 homeobox 2							61.0	68.0	65.0					11																	125299986		1949	4140	6089	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125299986G>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1141G>T	11.37:g.125299986G>T	ENSP00000298282:p.Ala381Ser					PKNOX2_uc010saz.1_Missense_Mutation_p.A352S|PKNOX2_uc010sba.1_Missense_Mutation_p.A352S|PKNOX2_uc010sbb.1_Missense_Mutation_p.A317S|PKNOX2_uc001qbv.2_Missense_Mutation_p.A146S	p.A381S	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1455	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	381					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1141G>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953225	0.73902	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.93	4.82	4.82	0.62117	.	0.055393	0.64402	D	0.000001	D	0.88250	0.6386	L	0.46157	1.445	0.58432	D	0.999999	D;P;P	0.61697	0.99;0.889;0.789	P;B;B	0.59889	0.865;0.351;0.17	D	0.86338	0.1703	10	0.29301	T	0.29	-6.314	18.252	0.90006	0.0:0.0:1.0:0.0	.	317;352;381	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	S	352;352;381;317	ENSP00000434732:A352S;ENSP00000433971:A352S;ENSP00000298282:A381S;ENSP00000441470:A317S	ENSP00000298282:A381S	A	+	1	0	PKNOX2	124805196	1.000000	0.71417	0.977000	0.42913	0.344000	0.29017	9.809000	0.99208	2.399000	0.81585	0.462000	0.41574	GCT		0.627	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			7	64	1	0	8.12818e-05	0.001984	9.60912e-05	7	64				
NFRKB	4798	broad.mit.edu	37	11	129753093	129753093	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:129753093C>T	ENST00000446488.3	-	8	928	c.825G>A	c.(823-825)ccG>ccA	p.P275P	NFRKB_ENST00000524746.1_Silent_p.P275P|NFRKB_ENST00000304521.5_Silent_p.P275P|NFRKB_ENST00000524794.1_Silent_p.P300P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	275					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCAAAAGGTCCGGGTGATCCT	0.468																																							uc001qfi.2		NA																	0				ovary(3)	3						c.(823-825)CCG>CCA		nuclear factor related to kappaB binding protein							129.0	118.0	122.0					11																	129753093		2201	4297	6498	SO:0001819	synonymous_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129753093C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.825G>A	11.37:g.129753093C>T						NFRKB_uc001qfg.2_Silent_p.P300P|NFRKB_uc001qfh.2_Silent_p.P298P|NFRKB_uc010sbw.1_Silent_p.P287P	p.P275P	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	9	1026	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	275					Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	c.825G>A	CCDS44770.1																																																																																				0.468	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		20	46	0	0	0	0.00278	0	20	46				
PRDM10	56980	broad.mit.edu	37	11	129793258	129793258	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:129793258T>C	ENST00000360871.3	-	13	2150	c.1919A>G	c.(1918-1920)tAc>tGc	p.Y640C	PRDM10_ENST00000304538.6_Missense_Mutation_p.Y554C|PRDM10_ENST00000358825.5_Missense_Mutation_p.Y644C|PRDM10_ENST00000526082.1_Missense_Mutation_p.Y558C|PRDM10_ENST00000423662.2_Missense_Mutation_p.Y558C|PRDM10_ENST00000528746.1_Missense_Mutation_p.Y614C	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGTGCACTGGTAGATCTTTTC	0.512											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001qfm.2		NA																	0				pancreas(1)	1						c.(1930-1932)TAC>TGC		PR domain containing 10 isoform 1							109.0	89.0	96.0					11																	129793258		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129793258T>C	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1919A>G	11.37:g.129793258T>C	ENSP00000354118:p.Tyr640Cys		OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PRDM10_uc001qfj.2_Missense_Mutation_p.Y558C|PRDM10_uc001qfk.2_Missense_Mutation_p.Y554C|PRDM10_uc001qfl.2_Missense_Mutation_p.Y558C|PRDM10_uc010sbx.1_Missense_Mutation_p.Y554C|PRDM10_uc001qfn.2_Missense_Mutation_p.Y640C	p.Y644C	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	14	2163	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	644			C2H2-type 6.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1931A>G	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023759	0.75390	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.060011	0.64402	D	0.000002	T	0.72985	0.3529	M	0.62266	1.93	0.50313	D	0.999865	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.70487	0.969;0.924;0.947;0.947;0.946;0.924	T	0.76280	-0.3017	10	0.87932	D	0	-16.2147	15.4706	0.75437	0.0:0.0:0.0:1.0	.	554;640;644;558;554;558	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	C	644;554;640;558;614;558;357	ENSP00000351686:Y644C;ENSP00000302669:Y554C;ENSP00000354118:Y640C;ENSP00000398431:Y558C;ENSP00000431262:Y614C;ENSP00000432237:Y558C;ENSP00000435940:Y357C	ENSP00000302669:Y554C	Y	-	2	0	PRDM10	129298468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.807000	0.69157	2.073000	0.62155	0.455000	0.32223	TAC		0.512	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	13	0	0	0	0.009096	0	4	13				
NCAPD3	23310	broad.mit.edu	37	11	134026925	134026925	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:134026925T>C	ENST00000534548.2	-	32	4304	c.4240A>G	c.(4240-4242)Agc>Ggc	p.S1414G	NCAPD3_ENST00000526787.2_5'Flank	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1414					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCGGGGGTGCTGATGGCCCGC	0.507																																							uc001qhd.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(4240-4242)AGC>GGC		non-SMC condensin II complex, subunit D3							216.0	174.0	188.0					11																	134026925		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134026925T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4240A>G	11.37:g.134026925T>C	ENSP00000433681:p.Ser1414Gly					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.S364G	p.S1414G	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	32	4846	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1414					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4240A>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924576	0.52653	.	.	ENSG00000151503	ENST00000534548	T	0.34859	1.34	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.955	T	0.61501	-0.7050	10	0.87932	D	0	-23.3264	13.4587	0.61214	0.0:0.0:0.0:1.0	.	1414;474	P42695;Q96FA6	CNDD3_HUMAN;.	G	1414	ENSP00000433681:S1414G	ENSP00000433681:S1414G	S	-	1	0	NCAPD3	133532135	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	4.338000	0.59316	2.232000	0.73038	0.528000	0.53228	AGC		0.507	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		14	89	0	0	0	0.004007	0	14	89				
NCAPD3	23310	broad.mit.edu	37	11	134062584	134062584	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:134062584C>A	ENST00000534548.2	-	16	2109	c.2045G>T	c.(2044-2046)aGc>aTc	p.S682I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	682					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GTTAACCTACCTCAGTTCCTG	0.483																																							uc001qhd.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(2044-2046)AGC>ATC		non-SMC condensin II complex, subunit D3							83.0	83.0	83.0					11																	134062584		2201	4297	6498	SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134062584C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2045+1G>T	11.37:g.134062584C>A						NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.S682I	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	16	2651	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	682					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.2045G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482619	0.63962	.	.	ENSG00000151503	ENST00000534548	T	0.63913	-0.07	5.88	4.97	0.65823	Armadillo-type fold (1);	0.148060	0.85682	D	0.000000	T	0.72112	0.3420	M	0.62723	1.935	0.80722	D	1	D	0.60160	0.987	P	0.57846	0.828	T	0.72757	-0.4197	9	.	.	.	-9.2672	14.7517	0.69530	0.0:0.9308:0.0:0.0692	.	682	P42695	CNDD3_HUMAN	I	682	ENSP00000433681:S682I	.	S	-	2	0	NCAPD3	133567794	1.000000	0.71417	0.913000	0.36048	0.128000	0.20619	2.917000	0.48821	1.481000	0.48307	0.591000	0.81541	AGC		0.483	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Missense_Mutation	10	35	1	0	0.00621372	0.006214	0.00666455	10	35				
WNK1	65125	broad.mit.edu	37	12	977171	977171	+	Intron	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:977171G>T	ENST00000315939.6	+	9	2782				WNK1_ENST00000574564.1_Missense_Mutation_p.R59L|WNK1_ENST00000530271.2_Missense_Mutation_p.R845L|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.R760L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCCAGCGGCGTAAGAGCACC	0.517																																					Colon(19;451 567 6672 12618 28860)		uc001qiq.2		NA																	0					0						c.(175-177)CGT>CTT		hereditary sensory neuropathy, type II							107.0	109.0	108.0					12																	977171		1932	4138	6070	SO:0001627	intron_variant	378465							g.chr12:977171G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3260G>T	12.37:g.977171G>T						WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.R59L	NM_213655	NP_998820			OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)		1	302	+	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)							A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.176G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189798	0.57909	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.15256	2.44;2.44	5.67	5.67	0.87782	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03413	-1.1039	8	0.25106	T	0.35	.	19.7725	0.96373	0.0:0.0:1.0:0.0	.	845	F5H2M7	.	L	760;845	ENSP00000444465:R760L;ENSP00000433548:R845L	ENSP00000433548:R845L	R	+	2	0	WNK1	847432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.673000	0.90976	0.467000	0.42956	CGT		0.517	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		17	73	1	0	2.48551e-13	0.00499	4.12633e-13	17	73				
ITFG2	55846	broad.mit.edu	37	12	2932953	2932953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:2932953G>T	ENST00000228799.2	+	11	1223	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	ITFG2_ENST00000419778.2_Nonsense_Mutation_p.E185*|ITFG2_ENST00000542548.1_Nonsense_Mutation_p.E250*	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	362					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGCCTGCAAAGAGGGCCGCAA	0.552																																							uc001qlb.1		NA																	0					0						c.(1084-1086)GAG>TAG		integrin alpha FG-GAP repeat containing 2							169.0	175.0	173.0					12																	2932953		2203	4300	6503	SO:0001587	stop_gained	55846							g.chr12:2932953G>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1084G>T	12.37:g.2932953G>T	ENSP00000228799:p.Glu362*					ITFG2_uc010seb.1_Nonsense_Mutation_p.E185*|ITFG2_uc010sec.1_RNA	p.E362*	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		11	1148	+			362					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Nonsense_Mutation	SNP	ENST00000228799.2	37	c.1084G>T	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	40	8.010924	0.98607	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	.	.	.	4.99	4.99	0.66335	.	0.454259	0.24158	N	0.041013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-5.8577	14.5681	0.68194	0.0:0.1467:0.8533:0.0	.	.	.	.	X	362;185;250	.	ENSP00000228799:E362X	E	+	1	0	ITFG2	2803214	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.938000	0.87678	2.319000	0.78375	0.561000	0.74099	GAG		0.552	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		42	169	1	0	7.05121e-23	0.010771	1.32162e-22	42	169				
PRMT8	56341	broad.mit.edu	37	12	3677990	3677990	+	Silent	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:3677990G>C	ENST00000382622.3	+	5	990	c.600G>C	c.(598-600)gtG>gtC	p.V200V	PRMT8_ENST00000452611.2_Silent_p.V191V|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	200	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCAACACGGTGATCTTTGCCA	0.572																																							uc001qmf.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(598-600)GTG>GTC		HMT1 hnRNP methyltransferase-like 4							311.0	229.0	257.0					12																	3677990		2203	4300	6503	SO:0001819	synonymous_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3677990G>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.600G>C	12.37:g.3677990G>C						PRMT8_uc009zed.2_Silent_p.V191V|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Silent_p.V14V	p.V200V	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		5	967	+			200					B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	c.600G>C	CCDS8521.2																																																																																				0.572	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		19	76	0	0	0	0.008871	0	19	76				
FGF6	2251	broad.mit.edu	37	12	4554610	4554610	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:4554610G>T	ENST00000228837.2	-	1	170	c.127C>A	c.(127-129)Cgt>Agt	p.R43S		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	43					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTGTTGGCACGGGTGCCTGCA	0.662																																							uc001qmr.1		NA																	0				lung(2)|ovary(1)	3						c.(127-129)CGT>AGT		fibroblast growth factor 6 precursor							72.0	77.0	76.0					12																	4554610		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4554610G>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.127C>A	12.37:g.4554610G>T	ENSP00000228837:p.Arg43Ser						p.R43S	NM_020996	NP_066276	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		1	171	-			43					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.127C>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140125	0.37825	.	.	ENSG00000111241	ENST00000228837	T	0.24538	1.85	5.0	4.1	0.47936	.	0.351103	0.35525	N	0.003157	T	0.21427	0.0516	L	0.39147	1.195	0.58432	D	0.999999	B	0.11235	0.004	B	0.11329	0.006	T	0.03374	-1.1043	10	0.30854	T	0.27	.	12.3065	0.54906	0.0:0.0:0.5334:0.4666	.	43	P10767	FGF6_HUMAN	S	43	ENSP00000228837:R43S	ENSP00000228837:R43S	R	-	1	0	FGF6	4424871	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	2.660000	0.46749	1.223000	0.43536	0.561000	0.74099	CGT		0.662	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		26	31	1	0	1.1804e-14	0.003954	2.04554e-14	26	31				
CDCA3	83461	broad.mit.edu	37	12	6958844	6958844	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:6958844C>A	ENST00000538862.2	-	4	1330	c.429G>T	c.(427-429)gaG>gaT	p.E143D	USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000540683.1_Missense_Mutation_p.E143D|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.E143D|CDCA3_ENST00000422785.3_Missense_Mutation_p.E143D|CDCA3_ENST00000229265.6_Missense_Mutation_p.E118D			Q99618	CDCA3_HUMAN	cell division cycle associated 3	143					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TGGAGGGGAACTCAGTCTGGT	0.547																																							uc001qrg.2		NA																	0					0						c.(427-429)GAG>GAT		cell division cycle associated 3							70.0	73.0	72.0					12																	6958844		2203	4300	6503	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6958844C>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.429G>T	12.37:g.6958844C>A	ENSP00000442068:p.Glu143Asp					CDCA3_uc001qre.2_Missense_Mutation_p.E143D|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	p.E143D	NM_031299	NP_112589	Q99618	CDCA3_HUMAN			4	557	-			143					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.429G>T	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713373	0.48517	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000229265;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.34	3.5	0.40072	.	0.284743	0.32386	N	0.006162	T	0.41096	0.1144	M	0.65975	2.015	0.09310	N	0.999991	P;P	0.37864	0.61;0.59	B;B	0.41202	0.345;0.35	T	0.22730	-1.0208	9	0.31617	T	0.26	-10.2716	7.7999	0.29168	0.0:0.8099:0.0:0.1901	.	143;143	Q99618;F8WDL1	CDCA3_HUMAN;.	D	143;118;143;143;143	.	ENSP00000229265:E118D	E	-	3	2	U47924.25;CDCA3	6829105	1.000000	0.71417	0.308000	0.25141	0.494000	0.33585	0.597000	0.24059	0.919000	0.36945	0.650000	0.86243	GAG		0.547	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		38	43	1	0	6.05902e-23	0.003755	1.14068e-22	38	43				
APOBEC1	339	broad.mit.edu	37	12	7805356	7805356	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:7805356G>A	ENST00000229304.4	-	3	140	c.120C>T	c.(118-120)taC>taT	p.Y40Y		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	40					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTTGATTTCGTAGAGCAGAC	0.448																																					Pancreas(135;929 1826 4531 10527 41012)	Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2		NA																	0					0						c.(118-120)TAC>TAT		apolipoprotein B mRNA editing enzyme							42.0	44.0	43.0					12																	7805356		2203	4300	6503	SO:0001819	synonymous_variant	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805356G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.120C>T	12.37:g.7805356G>A						APOBEC1_uc001qtc.2_Translation_Start_Site|APOBEC1_uc010sgf.1_Silent_p.Y40Y	p.Y40Y	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	154	-			40					Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	c.120C>T	CCDS8579.1																																																																																				0.448	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		10	39	0	0	0	0.008291	0	10	39				
PZP	5858	broad.mit.edu	37	12	9348939	9348939	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:9348939G>A	ENST00000261336.2	-	10	1107	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	PZP_ENST00000381997.2_Missense_Mutation_p.P229L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	360					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGCAAAAAAGGGGATTCCTTG	0.418																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1078-1080)CCC>CTC		pregnancy-zone protein precursor							120.0	106.0	111.0					12																	9348939		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9348939G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1079C>T	12.37:g.9348939G>A	ENSP00000261336:p.Pro360Leu					PZP_uc009zgl.2_Missense_Mutation_p.P229L	p.P360L	NM_002864	NP_002855					10	1108	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1079C>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386515	0.42308	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.43294	1.12;0.95	3.12	3.12	0.35913	.	0.340943	0.24330	U	0.039473	T	0.67813	0.2933	M	0.90922	3.16	0.30350	N	0.784901	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.988	T	0.70149	-0.4951	10	0.87932	D	0	.	10.4464	0.44497	0.0:0.0:1.0:0.0	.	229;360	P20742-2;P20742	.;PZP_HUMAN	L	360;229	ENSP00000261336:P360L;ENSP00000371427:P229L	ENSP00000261336:P360L	P	-	2	0	PZP	9240206	0.992000	0.36948	0.144000	0.22314	0.468000	0.32798	3.474000	0.53129	1.725000	0.51514	0.306000	0.20318	CCC		0.418	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	26	0	0	0	0.00308	0	7	26				
CLEC12B	387837	broad.mit.edu	37	12	10167231	10167231	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:10167231C>A	ENST00000338896.5	+	3	428	c.300C>A	c.(298-300)aaC>aaA	p.N100K	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000396502.1_Missense_Mutation_p.N100K|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GCAACTCCAACAACTTGTCCA	0.428																																							uc001qwz.2		NA																	0					0						c.(298-300)AAC>AAA		C-type lectin domain family 12, member B isoform							105.0	98.0	101.0					12																	10167231		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167231C>A	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.300C>A	12.37:g.10167231C>A	ENSP00000344563:p.Asn100Lys					CLEC12B_uc001qwx.1_Missense_Mutation_p.N100K|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA	p.N100K	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN			3	428	+			100			Extracellular (Potential).		Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.300C>A	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.747413	0.00086	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.39056	1.1;1.1	4.01	-4.98	0.03019	Ly49-like N-terminal (1);	1.416670	0.04203	N	0.330373	T	0.19485	0.0468	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13150	-1.0520	10	0.09843	T	0.71	.	1.0773	0.01635	0.3936:0.2643:0.1976:0.1446	.	100;100	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	K	100	ENSP00000379759:N100K;ENSP00000344563:N100K	ENSP00000344563:N100K	N	+	3	2	CLEC12B	10058498	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.026000	0.03596	-0.838000	0.04218	-0.959000	0.02639	AAC		0.428	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		12	33	1	0	7.03913e-09	0.001368	1.02453e-08	12	33				
DDX47	51202	broad.mit.edu	37	12	12966355	12966355	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:12966355G>T	ENST00000358007.3	+	1	76	c.54G>T	c.(52-54)gtG>gtT	p.V18V	DDX47_ENST00000352940.4_Silent_p.V18V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	18					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGCCGATTGTGGAAGAGGAGG	0.567											OREG0021680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rav.2		NA																	0					0						c.(52-54)GTG>GTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							61.0	60.0	60.0					12																	12966355		2203	4300	6503	SO:0001819	synonymous_variant	51202					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12966355G>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.54G>T	12.37:g.12966355G>T			OREG0021680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	DDX47_uc009zhw.1_Silent_p.V18V|DDX47_uc001rax.2_Silent_p.V18V|DDX47_uc001ray.2_Silent_p.V18V|DDX47_uc010shn.1_Silent_p.V18V	p.V18V	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	4	652	+		Prostate(47;0.0526)	18					B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Silent	SNP	ENST00000358007.3	37	c.54G>T	CCDS8655.1																																																																																				0.567	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		4	9	1	0	0.00024832	0.009096	0.000286393	4	9				
PIK3C2G	5288	broad.mit.edu	37	12	18573954	18573954	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:18573954C>A	ENST00000266497.5	+	15	2310	c.2272C>A	c.(2272-2274)Cca>Aca	p.P758T	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P799T|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.P758T			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	758	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGAATATCTCCCACAGCTAGT	0.343																																							uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2272-2274)CCA>ACA		phosphoinositide-3-kinase, class 2 gamma							108.0	101.0	103.0					12																	18573954		1820	4079	5899	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18573954C>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2272C>A	12.37:g.18573954C>A	ENSP00000266497:p.Pro758Thr					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.P799T|PIK3C2G_uc010sic.1_Missense_Mutation_p.P577T	p.P758T	NM_004570	NP_004561	O75747	P3C2G_HUMAN			16	2388	+		Hepatocellular(102;0.194)	758					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2272C>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464374	0.63513	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.70869	-0.52;-0.52;-0.52	4.26	4.26	0.50523	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.82323	2.585	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86711	0.1936	10	0.87932	D	0	-15.3632	14.99	0.71381	0.0:1.0:0.0:0.0	.	798;799;758	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	T	758;758;799	ENSP00000404845:P758T;ENSP00000266497:P758T;ENSP00000445381:P799T	ENSP00000266497:P758T	P	+	1	0	PIK3C2G	18465221	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.837000	0.55820	2.657000	0.90304	0.557000	0.71058	CCA		0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		23	38	1	0	5.49717e-05	0.00333	6.64665e-05	23	38				
PDE3A	5139	broad.mit.edu	37	12	20790087	20790087	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:20790087T>G	ENST00000359062.3	+	9	2095	c.2055T>G	c.(2053-2055)atT>atG	p.I685M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	685					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGGACTCAATTATGGAGCAGC	0.343																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2053-2055)ATT>ATG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						87.0	82.0	84.0					12																	20790087		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20790087T>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2055T>G	12.37:g.20790087T>G	ENSP00000351957:p.Ile685Met						p.I685M	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			9	2077	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	685					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2055T>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015490	0.35511	.	.	ENSG00000172572	ENST00000359062	T	0.77098	-1.07	4.64	-2.52	0.06346	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.149114	0.27056	U	0.021157	T	0.52025	0.1709	L	0.29908	0.895	0.20821	N	0.999843	P	0.42735	0.788	B	0.31245	0.126	T	0.52939	-0.8508	10	0.59425	D	0.04	.	2.8948	0.05687	0.156:0.3903:0.1018:0.3519	.	685	Q14432	PDE3A_HUMAN	M	685	ENSP00000351957:I685M	ENSP00000351957:I685M	I	+	3	3	PDE3A	20681354	0.146000	0.22672	0.994000	0.49952	0.994000	0.84299	-0.679000	0.05203	-0.216000	0.10048	0.482000	0.46254	ATT		0.343	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			5	19	0	0	0	0.001168	0	5	19				
SLCO1B7	338821	broad.mit.edu	37	12	21205070	21205070	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:21205070T>A	ENST00000421593.2	+	9	1231	c.1231T>A	c.(1231-1233)Tat>Aat	p.Y411N	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.Y458N|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.Y458N|RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	411	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACCACTTTCTTATTGCAACTC	0.373																																							uc010sin.1		NA																	0					0						c.(1231-1233)TAT>AAT		liver-specific organic anion transporter 3TM12							126.0	126.0	126.0					12																	21205070		2203	4300	6503	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21205070T>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1231T>A	12.37:g.21205070T>A	ENSP00000394168:p.Tyr411Asn					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.Y458N	p.Y411N	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			9	1231	+			411					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1231T>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	5.176	0.218092	0.09810	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.38077	1.16;1.16;1.16	3.09	3.09	0.35607	.	1.236970	0.06087	N	0.662949	T	0.25306	0.0615	L	0.28115	0.83	0.26999	N	0.964956	B;B	0.22276	0.024;0.067	B;B	0.22386	0.039;0.039	T	0.24799	-1.0150	10	0.18710	T	0.47	.	6.3936	0.21601	0.0:0.0:0.2532:0.7468	.	411;458	G3V0H7;F5H094	.;.	N	458;458;411	ENSP00000370952:Y458N;ENSP00000452013:Y458N;ENSP00000394168:Y411N	ENSP00000370952:Y458N	Y	+	1	0	SLCO1B7;RP11-545J16.1	21096337	0.035000	0.19736	1.000000	0.80357	0.964000	0.63967	-0.001000	0.12947	1.402000	0.46780	0.329000	0.21502	TAT		0.373	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		9	38	0	0	0	0.004482	0	9	38				
IAPP	3375	broad.mit.edu	37	12	21531345	21531345	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:21531345T>G	ENST00000240652.3	+	3	391	c.255T>G	c.(253-255)aaT>aaG	p.N85K	SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR|IAPP_ENST00000539393.1_Missense_Mutation_p.N85K	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	85					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						AGCCACTGAATTACTTGCCCC	0.398																																							uc001rev.2		NA																	0					0						c.(253-255)AAT>AAG		islet amyloid polypeptide precursor	Perindopril(DB00790)						90.0	87.0	88.0					12																	21531345		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21531345T>G		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.255T>G	12.37:g.21531345T>G	ENSP00000240652:p.Asn85Lys					SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	p.N85K	NM_000415	NP_000406	P10997	IAPP_HUMAN			3	407	+			85					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.255T>G	CCDS8688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.36|11.36	1.617009|1.617009	0.28801|0.28801	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000535428|ENST00000539393;ENST00000240652	.|T;T	.|0.77229	.|-1.08;-1.08	4.99|4.99	3.84|3.84	0.44239|0.44239	.|.	.|0.655096	.|0.14867	.|N	.|0.293745	T|T	0.64216|0.64216	0.2578|0.2578	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.32245	.|0.361	.|B	.|0.25140	.|0.058	T|T	0.57797|0.57797	-0.7749|-0.7749	4|9	.|0.66056	.|D	.|0.02	-0.3259|-0.3259	5.791|5.791	0.18361|0.18361	0.0:0.2596:0.0:0.7404|0.0:0.2596:0.0:0.7404	.|.	.|85	.|P10997	.|IAPP_HUMAN	S|K	81|85	.|ENSP00000437357:N85K;ENSP00000240652:N85K	.|ENSP00000240652:N85K	I|N	+|+	2|3	0|2	IAPP|IAPP	21422612|21422612	0.001000|0.001000	0.12720|0.12720	0.074000|0.074000	0.20217|0.20217	0.034000|0.034000	0.12701|0.12701	0.927000|0.927000	0.28818|0.28818	0.758000|0.758000	0.33059|0.33059	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.398	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		15	34	0	0	0	0.00245	0	15	34				
IAPP	3375	broad.mit.edu	37	12	21531349	21531349	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:21531349T>A	ENST00000240652.3	+	3	395	c.259T>A	c.(259-261)Ttg>Atg	p.L87M	SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR|IAPP_ENST00000539393.1_Missense_Mutation_p.L87M	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	87					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						ACTGAATTACTTGCCCCTTTA	0.383																																							uc001rev.2		NA																	0					0						c.(259-261)TTG>ATG		islet amyloid polypeptide precursor	Perindopril(DB00790)						86.0	83.0	84.0					12																	21531349		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21531349T>A		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.259T>A	12.37:g.21531349T>A	ENSP00000240652:p.Leu87Met					SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	p.L87M	NM_000415	NP_000406	P10997	IAPP_HUMAN			3	411	+			87					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.259T>A	CCDS8688.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765502	0.49574	.	.	ENSG00000121351	ENST00000539393;ENST00000240652	T;T	0.81415	-1.49;-1.49	4.99	-2.67	0.06059	.	0.917744	0.09023	N	0.859877	T	0.78489	0.4291	.	.	.	0.09310	N	1	P	0.52316	0.952	P	0.51582	0.674	T	0.68674	-0.5346	9	0.62326	D	0.03	-1.4439	5.2858	0.15700	0.1182:0.5123:0.1209:0.2486	.	87	P10997	IAPP_HUMAN	M	87	ENSP00000437357:L87M;ENSP00000240652:L87M	ENSP00000240652:L87M	L	+	1	2	IAPP	21422616	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.268000	0.08607	-0.259000	0.09432	-0.256000	0.11100	TTG		0.383	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		8	41	0	0	0	0.00308	0	8	41				
ST8SIA1	6489	broad.mit.edu	37	12	22354535	22354535	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:22354535C>G	ENST00000396037.4	-	5	1503	c.1022G>C	c.(1021-1023)aGa>aCa	p.R341T	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.R198T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	341					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCTGCATTCTCAGTGCACC	0.463																																							uc001rfo.3		NA																	0				ovary(3)	3						c.(1021-1023)AGA>ACA		alpha-2,8-sialyltransferase 1							114.0	116.0	115.0					12																	22354535		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354535C>G	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.1022G>C	12.37:g.22354535C>G	ENSP00000379353:p.Arg341Thr					ST8SIA1_uc009zix.2_Missense_Mutation_p.R198T	p.R341T	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			5	1504	-			341			Lumenal (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.1022G>C	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062012	0.55432	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T;T	0.28895	1.59;1.59	5.73	4.62	0.57501	.	0.092939	0.64402	D	0.000001	T	0.33847	0.0877	M	0.71206	2.165	0.50467	D	0.999877	P;P	0.38504	0.634;0.494	B;B	0.39339	0.234;0.297	T	0.11421	-1.0588	10	0.49607	T	0.09	-19.5064	10.1428	0.42744	0.0:0.823:0.0:0.177	.	198;341	G3V1U7;Q92185	.;SIA8A_HUMAN	T	341;198	ENSP00000379353:R341T;ENSP00000446363:R198T	ENSP00000379353:R341T	R	-	2	0	ST8SIA1	22245802	1.000000	0.71417	0.965000	0.40720	0.847000	0.48162	4.718000	0.61930	2.861000	0.98227	0.655000	0.94253	AGA		0.463	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		31	104	0	0	0	0.008361	0	31	104				
SOX5	6660	broad.mit.edu	37	12	23687398	23687399	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:23687398_23687399TG>AT	ENST00000451604.2	-	15	2147_2148	c.2046_2047CA>AT	c.(2044-2049)gcCAtg>gcATtg	p.M683L	SOX5_ENST00000546136.1_Missense_Mutation_p.M670L|SOX5_ENST00000541536.1_Missense_Mutation_p.M562L|SOX5_ENST00000309359.1_Missense_Mutation_p.M670L|SOX5_ENST00000545921.1_Missense_Mutation_p.M673L|SOX5_ENST00000537393.1_Missense_Mutation_p.M648L|SOX5_ENST00000381381.2_Missense_Mutation_p.M562L|SOX5_ENST00000396007.2_Missense_Mutation_p.M297L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	683					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATCCCAGCCATGGCGATGGCTC	0.554																																							uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(2044-2049)GCCATG>GCATTG		SRY (sex determining region Y)-box 5 isoform a																																				SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23687398_23687399TG>AT	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2046_2047delinsAT	12.37:g.23687398_23687399delinsAT	ENSP00000398273:p.Met683Leu					SOX5_uc001rfx.2_Missense_Mutation_p.M670L|SOX5_uc001rfy.2_Missense_Mutation_p.M562L|SOX5_uc001rfv.2_Missense_Mutation_p.M297L|SOX5_uc010siv.1_Missense_Mutation_p.M670L	p.M683L	NM_006940	NP_008871	P35711	SOX5_HUMAN			15	2148_2149	-			683					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	DNP	ENST00000451604.2	37	c.2046_2047CA>AT	CCDS8699.1																																																																																				0.554	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		14	21	0	0	0	0.004672	0	14	21				
KRAS	3845	broad.mit.edu	37	12	25398220	25398220	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:25398220A>T	ENST00000256078.4	-	2	162	c.99T>A	c.(97-99)gaT>gaA	p.D33E	KRAS_ENST00000556131.1_Missense_Mutation_p.D33E|KRAS_ENST00000311936.3_Missense_Mutation_p.D33E|KRAS_ENST00000557334.1_Missense_Mutation_p.D33E	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	33					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTATTGTTGGATCATATTCGT	0.373		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		0				large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(97-99)GAT>GAA		c-K-ras2 protein isoform a precursor							67.0	58.0	61.0					12																	25398220		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398220A>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.99T>A	12.37:g.25398220A>T	ENSP00000256078:p.Asp33Glu	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.D33E|KRAS_uc001rgr.2_RNA	p.D33E	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	280	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		33			Effector region.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.99T>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.170084	0.78452	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.68	-2.86	0.05717	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	L	0.41027	1.25	0.80722	D	1	D;D	0.69078	0.975;0.997	P;D	0.70016	0.81;0.967	T	0.75684	-0.3232	10	0.87932	D	0	.	13.1152	0.59295	0.4352:0.0:0.5648:0.0	.	33;33	P01116-2;P01116	.;RASK_HUMAN	E	33	ENSP00000308495:D33E;ENSP00000452512:D33E;ENSP00000256078:D33E;ENSP00000451856:D33E	ENSP00000256078:D33E	D	-	3	2	KRAS	25289487	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	1.350000	0.34010	-0.501000	0.06605	0.460000	0.39030	GAT		0.373	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	11	0	0	0	0.001168	0	6	11				
REP15	387849	broad.mit.edu	37	12	27849605	27849605	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:27849605A>T	ENST00000310791.2	+	1	178	c.110A>T	c.(109-111)gAg>gTg	p.E37V	RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	37					receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	endosome membrane (GO:0010008)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					AAACTGAAGGAGTACCTTGGA	0.453																																							uc001rig.1		NA																	0				ovary(1)	1						c.(109-111)GAG>GTG		RAB15 effector protein							97.0	87.0	90.0					12																	27849605		2203	4300	6503	SO:0001583	missense	387849					early endosome membrane		g.chr12:27849605A>T	BC140921	CCDS31762.1	12p11.22	2010-09-02			ENSG00000174236	ENSG00000174236			33748	protein-coding gene	gene with protein product		610848				16195351	Standard	NM_001029874		Approved	RAB15EP	uc001rig.1	Q6BDI9		ENST00000310791.2:c.110A>T	12.37:g.27849605A>T	ENSP00000310335:p.Glu37Val						p.E37V	NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN			1	178	+	Lung SC(9;0.0873)		37					B2RU16	Missense_Mutation	SNP	ENST00000310791.2	37	c.110A>T	CCDS31762.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593013	0.46214	.	.	ENSG00000174236	ENST00000310791	T	0.39997	1.05	5.11	2.72	0.32119	.	0.249234	0.31210	N	0.008043	T	0.38321	0.1036	L	0.59436	1.845	0.35186	D	0.772884	P	0.49358	0.923	B	0.43103	0.408	T	0.51919	-0.8644	10	0.72032	D	0.01	-0.5657	7.7418	0.28845	0.7869:0.1398:0.0733:0.0	.	37	Q6BDI9	REP15_HUMAN	V	37	ENSP00000310335:E37V	ENSP00000310335:E37V	E	+	2	0	REP15	27740872	1.000000	0.71417	0.955000	0.39395	0.866000	0.49608	3.367000	0.52350	0.407000	0.25591	0.528000	0.53228	GAG		0.453	REP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402894.1	NM_001029874		16	11	0	0	0	0.004007	0	16	11				
TMTC1	83857	broad.mit.edu	37	12	29904677	29904677	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:29904677C>A	ENST00000539277.1	-	5	918	c.860G>T	c.(859-861)gGc>gTc	p.G287V	TMTC1_ENST00000381224.2_Missense_Mutation_p.G179V|TMTC1_ENST00000551659.1_Missense_Mutation_p.G287V|TMTC1_ENST00000552618.1_Missense_Mutation_p.G287V|TMTC1_ENST00000256062.5_Missense_Mutation_p.G179V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	287						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGAGTGGCAGCCACCCCAAGC	0.627																																							uc001rjb.2		NA																	0					0						c.(535-537)GGC>GTC		transmembrane and tetratricopeptide repeat							78.0	72.0	74.0					12																	29904677		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29904677C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.860G>T	12.37:g.29904677C>A	ENSP00000442046:p.Gly287Val					TMTC1_uc001rjc.1_Missense_Mutation_p.G179V	p.G179V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			5	1010	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		287					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.536G>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922180	0.33908	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.69926	-0.29;-0.17;-0.44;-0.16;1.39	4.73	3.83	0.44106	.	0.781535	0.11802	N	0.528013	T	0.54515	0.1863	L	0.34521	1.04	0.53005	D	0.999964	P;B	0.42296	0.775;0.061	B;B	0.39258	0.295;0.062	T	0.46148	-0.9212	9	.	.	.	-3.066	10.8388	0.46702	0.0:0.5673:0.4327:0.0	.	179;287	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	V	179;287;287;287;179	ENSP00000256062:G179V;ENSP00000448112:G287V;ENSP00000449043:G287V;ENSP00000442046:G287V;ENSP00000370622:G179V	.	G	-	2	0	TMTC1	29795944	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.067000	0.50010	1.290000	0.44636	0.555000	0.69702	GGC		0.627	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		13	36	1	0	5.50884e-06	0.001368	6.94735e-06	13	36				
TMTC1	83857	broad.mit.edu	37	12	29904703	29904703	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:29904703C>A	ENST00000539277.1	-	5	892	c.834G>T	c.(832-834)cgG>cgT	p.R278R	TMTC1_ENST00000381224.2_Silent_p.R170R|TMTC1_ENST00000551659.1_Silent_p.R278R|TMTC1_ENST00000552618.1_Silent_p.R278R|TMTC1_ENST00000256062.5_Silent_p.R170R	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	278						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGTGAGGGAACCGCTGCTGCT	0.647																																							uc001rjb.2		NA																	0					0						c.(508-510)CGG>CGT		transmembrane and tetratricopeptide repeat							62.0	58.0	60.0					12																	29904703		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29904703C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.834G>T	12.37:g.29904703C>A						TMTC1_uc001rjc.1_Silent_p.R170R	p.R170R	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			5	984	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		278					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.510G>T	CCDS53772.1																																																																																				0.647	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		6	23	1	0	2.0095e-06	0.001984	2.62175e-06	6	23				
TMTC1	83857	broad.mit.edu	37	12	29911707	29911707	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:29911707C>A	ENST00000539277.1	-	3	542	c.484G>T	c.(484-486)Gct>Tct	p.A162S	TMTC1_ENST00000381224.2_Missense_Mutation_p.A54S|TMTC1_ENST00000551659.1_Missense_Mutation_p.A162S|TMTC1_ENST00000552618.1_Missense_Mutation_p.A162S|TMTC1_ENST00000256062.5_Missense_Mutation_p.A54S	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	162						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACGATCCCAGCCACCTTGGAA	0.378																																							uc001rjb.2		NA																	0					0						c.(160-162)GCT>TCT		transmembrane and tetratricopeptide repeat							78.0	63.0	68.0					12																	29911707		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29911707C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.484G>T	12.37:g.29911707C>A	ENSP00000442046:p.Ala162Ser					TMTC1_uc001rjc.1_Missense_Mutation_p.A54S	p.A54S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			3	634	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		162			Helical; (Potential).		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.160G>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750805	0.31046	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;D;D;D;T	0.95205	-0.84;-3.64;-3.64;-3.64;0.88	5.28	4.15	0.48705	.	0.241593	0.43416	D	0.000569	D	0.89030	0.6599	L	0.39633	1.23	0.31732	N	0.636889	B;B	0.33826	0.427;0.028	B;B	0.31495	0.131;0.012	D	0.86629	0.1884	9	.	.	.	-13.5612	8.1567	0.31173	0.0:0.8322:0.0:0.1678	.	54;162	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	S	54;162;162;162;54	ENSP00000256062:A54S;ENSP00000448112:A162S;ENSP00000449043:A162S;ENSP00000442046:A162S;ENSP00000370622:A54S	.	A	-	1	0	TMTC1	29802974	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.406000	0.34646	2.624000	0.88883	0.655000	0.94253	GCT		0.378	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		6	21	1	0	3.59834e-05	0.001168	4.39136e-05	6	21				
SYT10	341359	broad.mit.edu	37	12	33559883	33559883	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:33559883A>G	ENST00000228567.3	-	3	1214	c.918T>C	c.(916-918)taT>taC	p.Y306Y	SYT10_ENST00000535526.1_Silent_p.Y125Y|RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	306	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTAGTTGATCATATGCTACAG	0.343																																							uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(916-918)TAT>TAC		synaptotagmin X							107.0	107.0	107.0					12																	33559883		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33559883A>G	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.918T>C	12.37:g.33559883A>G						SYT10_uc009zju.1_Silent_p.Y116Y	p.Y306Y	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			3	1215	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		306			Cytoplasmic (Potential).|C2 1.		Q495U2	Silent	SNP	ENST00000228567.3	37	c.918T>C	CCDS8732.1																																																																																				0.343	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		7	20	0	0	0	0.004482	0	7	20				
ADAMTS20	80070	broad.mit.edu	37	12	43858450	43858450	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:43858450C>T	ENST00000389420.3	-	10	1452	c.1453G>A	c.(1453-1455)Gga>Aga	p.G485R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G485R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	485	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTTGTTTCCATCATATCGT	0.398																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1453-1455)GGA>AGA		a disintegrin-like and metalloprotease with							117.0	109.0	111.0					12																	43858450		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858450C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1453G>A	12.37:g.43858450C>T	ENSP00000374071:p.Gly485Arg						p.G485R	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1453	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	485			Disintegrin.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1453G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297952	0.81025	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.03580	3.88;3.88	4.75	4.75	0.60458	Metallopeptidase, catalytic domain (1);	0.485631	0.16731	N	0.201845	T	0.07503	0.0189	L	0.41710	1.295	0.80722	D	1	P	0.48016	0.904	P	0.46362	0.514	T	0.26780	-1.0093	10	0.72032	D	0.01	.	18.6296	0.91355	0.0:1.0:0.0:0.0	.	485	P59510	ATS20_HUMAN	R	485	ENSP00000374071:G485R;ENSP00000448341:G485R	ENSP00000374068:G485R	G	-	1	0	ADAMTS20	42144717	1.000000	0.71417	0.794000	0.32065	0.669000	0.39330	5.725000	0.68507	2.563000	0.86464	0.591000	0.81541	GGA		0.398	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		10	55	0	0	0	0.006214	0	10	55				
PCED1B	91523	broad.mit.edu	37	12	47471813	47471813	+	5'Flank	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:47471813C>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.G325C|AMIGO2_ENST00000266581.4_Missense_Mutation_p.G325C|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G325C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G325C			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TTATCTGGACCCACCCAGATG	0.468																																							uc001rpm.2		NA																	0				ovary(1)|skin(1)	2						c.(973-975)GGT>TGT		adhesion molecule with Ig-like domain 2							156.0	158.0	157.0					12																	47471813		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471813C>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471813C>A	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.G325C|AMIGO2_uc001rpl.2_Missense_Mutation_p.G325C	p.G325C	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	1628	-	Renal(347;0.138)|Lung SC(27;0.192)		325			Extracellular (Potential).|Ig-like C2-type.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.973G>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	9.972	1.225665	0.22542	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.13	-2.17	0.07059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.881971	0.10138	N	0.711272	T	0.10852	0.0265	L	0.43923	1.385	0.22424	N	0.999115	B	0.10296	0.003	B	0.12837	0.008	T	0.34477	-0.9827	10	0.38643	T	0.18	-8.7888	7.6101	0.28124	0.0:0.2187:0.1363:0.645	.	325	Q86SJ2	AMGO2_HUMAN	C	325	ENSP00000266581:G325C;ENSP00000449034:G325C;ENSP00000406020:G325C;ENSP00000320848:G325C	ENSP00000266581:G325C	G	-	1	0	AMIGO2	45758080	0.000000	0.05858	0.040000	0.18447	0.929000	0.56500	-0.050000	0.11904	-0.183000	0.10585	0.555000	0.69702	GGT		0.468	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		20	91	1	0	1.50039e-11	0.012319	2.37271e-11	20	91				
DDN	23109	broad.mit.edu	37	12	49391466	49391466	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:49391466C>A	ENST00000421952.2	-	2	1214	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	398	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGTGTCTGGCTATGGCGGGG	0.612																																							uc001rsv.1		NA																	0				large_intestine(1)	1						c.(1192-1194)AGC>ATC		dendrin							32.0	35.0	34.0					12																	49391466		2200	4299	6499	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391466C>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1193G>T	12.37:g.49391466C>A	ENSP00000390590:p.Ser398Ile					uc001rsw.2_5'Flank	p.S398I	NM_015086	NP_055901	O94850	DEND_HUMAN			2	1211	-			398			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1193G>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444066	0.43429	.	.	ENSG00000181418	ENST00000421952	T	0.58210	0.35	3.85	3.85	0.44370	.	0.000000	0.50627	D	0.000107	T	0.59032	0.2164	L	0.27053	0.805	0.41333	D	0.987254	D	0.76494	0.999	D	0.83275	0.996	T	0.63598	-0.6601	10	0.66056	D	0.02	-13.9718	13.7123	0.62675	0.0:1.0:0.0:0.0	.	398	O94850	DEND_HUMAN	I	398	ENSP00000390590:S398I	ENSP00000390590:S398I	S	-	2	0	DDN	47677733	0.977000	0.34250	0.995000	0.50966	0.120000	0.20174	1.595000	0.36708	2.448000	0.82819	0.561000	0.74099	AGC		0.612	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			5	35	1	0	0.000157383	0.00308	0.000182879	5	35				
CELA1	1990	broad.mit.edu	37	12	51723585	51723585	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:51723585C>G	ENST00000293636.1	-	7	682	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	214	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						ACTTGCCATTCACCAAGCAAT	0.557																																							uc001ryi.1		NA																	0				breast(1)	1						c.(640-642)GTG>GTC		chymotrypsin-like elastase family, member 1							72.0	72.0	72.0					12																	51723585		2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51723585C>G		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.642G>C	12.37:g.51723585C>G							p.V214V	NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN			7	683	-			214			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.642G>C	CCDS8812.1																																																																																				0.557	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		26	58	0	0	0	0.005443	0	26	58				
KRT71	112802	broad.mit.edu	37	12	52946599	52946599	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:52946599G>A	ENST00000267119.5	-	1	332	c.263C>T	c.(262-264)gCc>gTc	p.A88V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	88	Gly-rich.|Head.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AGGCCCCAGGGCCACACTGCC	0.642																																							uc001sao.2		NA																	0				ovary(1)|skin(1)	2						c.(262-264)GCC>GTC		keratin 71							83.0	83.0	83.0					12																	52946599		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52946599G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.263C>T	12.37:g.52946599G>A	ENSP00000267119:p.Ala88Val						p.A88V	NM_033448	NP_258259	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	1	333	-			88			Head.|Gly-rich.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.263C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916348	0.33815	.	.	ENSG00000139648	ENST00000267119	T	0.78364	-1.17	5.1	2.24	0.28232	.	0.150175	0.30109	N	0.010383	T	0.70193	0.3196	L	0.59436	1.845	0.33422	D	0.57998	B	0.20671	0.047	B	0.16289	0.015	T	0.68857	-0.5298	10	0.49607	T	0.09	.	8.3398	0.32237	0.1352:0.355:0.5098:0.0	.	88	Q3SY84	K2C71_HUMAN	V	88	ENSP00000267119:A88V	ENSP00000267119:A88V	A	-	2	0	KRT71	51232866	0.962000	0.33011	0.761000	0.31378	0.834000	0.47266	1.171000	0.31896	0.253000	0.21552	-0.264000	0.10439	GCC		0.642	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		11	58	0	0	0	0.010729	0	11	58				
KRT79	338785	broad.mit.edu	37	12	53223890	53223890	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:53223890C>T	ENST00000330553.5	-	4	806	c.772G>A	c.(772-774)Gca>Aca	p.A258T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	258	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCATGTATGCTGCATCCACA	0.582																																							uc001sbb.2		NA																	0				ovary(2)|skin(2)	4						c.(772-774)GCA>ACA		keratin 6L							135.0	110.0	119.0					12																	53223890		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53223890C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.772G>A	12.37:g.53223890C>T	ENSP00000328358:p.Ala258Thr					KRT79_uc001sba.2_Missense_Mutation_p.A29T	p.A258T	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			4	805	-			258			Rod.|Coil 1B.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.772G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825272	0.71143	.	.	ENSG00000185640	ENST00000330553	D	0.89875	-2.58	4.54	3.62	0.41486	Filament (1);	0.718439	0.11962	N	0.512610	D	0.90307	0.6968	M	0.85630	2.765	0.28610	N	0.908704	B	0.25441	0.126	B	0.30179	0.112	D	0.86234	0.1639	10	0.66056	D	0.02	.	12.0801	0.53665	0.1733:0.8267:0.0:0.0	.	258	Q5XKE5	K2C79_HUMAN	T	258	ENSP00000328358:A258T	ENSP00000328358:A258T	A	-	1	0	KRT79	51510157	0.999000	0.42202	0.008000	0.14137	0.073000	0.16967	4.333000	0.59285	1.465000	0.48006	0.655000	0.94253	GCA		0.582	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		11	22	0	0	0	0.010729	0	11	22				
NCKAP1L	3071	broad.mit.edu	37	12	54910700	54910700	+	Missense_Mutation	SNP	G	G	T	rs375104374		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:54910700G>T	ENST00000293373.6	+	11	1098	c.1019G>T	c.(1018-1020)cGg>cTg	p.R340L	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R290L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	340					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATTGTCAACGGCGGCAATTT	0.507																																							uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1018-1020)CGG>CTG		NCK-associated protein 1-like							118.0	112.0	114.0					12																	54910700		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54910700G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1019G>T	12.37:g.54910700G>T	ENSP00000293373:p.Arg340Leu					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R290L	p.R340L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			11	1098	+			340					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1019G>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998193	0.93227	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57273	0.41;0.41	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.78049	2.395	0.48762	D	0.999707	D	0.64830	0.994	D	0.68353	0.957	T	0.76416	-0.2967	10	0.87932	D	0	-15.0223	16.554	0.84481	0.0:0.0:1.0:0.0	.	340	P55160	NCKPL_HUMAN	L	340;290	ENSP00000293373:R340L;ENSP00000445596:R290L	ENSP00000293373:R340L	R	+	2	0	NCKAP1L	53196967	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.043000	0.76572	2.578000	0.87016	0.591000	0.81541	CGG		0.507	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		20	76	1	0	3.51602e-12	0.008871	5.67099e-12	20	76				
ITGA7	3679	broad.mit.edu	37	12	56089355	56089355	+	Missense_Mutation	SNP	C	C	A	rs372579627		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:56089355C>A	ENST00000555728.1	-	15	2114	c.2086G>T	c.(2086-2088)Gcc>Tcc	p.A696S	ITGA7_ENST00000347027.6_Missense_Mutation_p.A646S|ITGA7_ENST00000553804.1_Missense_Mutation_p.A656S|ITGA7_ENST00000257880.7_Missense_Mutation_p.A696S|ITGA7_ENST00000394230.2_Missense_Mutation_p.A656S|ITGA7_ENST00000452168.2_Missense_Mutation_p.A559S|ITGA7_ENST00000394229.2_Missense_Mutation_p.A652S|ITGA7_ENST00000257879.6_Missense_Mutation_p.A652S			Q13683	ITA7_HUMAN	integrin, alpha 7	696			A -> V (in dbSNP:rs17855684). {ECO:0000269|PubMed:15489334}.		blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGAAGCGGGCGCGGACCAGC	0.587																																							uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1966-1968)GCC>TCC		integrin alpha 7 isoform 1 precursor		C	SER/ALA,SER/ALA,SER/ALA	0,4406		0,0,2203	77.0	73.0	74.0		1966,1675,1954	3.9	0.8	12		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	99,99,99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign,benign,benign	656/1142,559/1045,652/1138	56089355	1,13005	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56089355C>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2086G>T	12.37:g.56089355C>A	ENSP00000452387:p.Ala696Ser					ITGA7_uc001shg.2_Missense_Mutation_p.A652S|ITGA7_uc010sps.1_Missense_Mutation_p.A559S|ITGA7_uc009znw.2_5'UTR|ITGA7_uc009znx.2_Missense_Mutation_p.A533S	p.A656S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			14	2186	-			696			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1966G>T		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160389	0.38119	0.0	1.16E-4	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.84	3.94	0.45596	Integrin alpha-2 (1);	0.329101	0.29480	N	0.012035	T	0.46946	0.1419	L	0.58583	1.82	0.26566	N	0.973641	B;B;B;P	0.47910	0.032;0.017;0.032;0.902	B;B;B;P	0.51582	0.118;0.036;0.046;0.674	T	0.32079	-0.9920	10	0.10636	T	0.68	.	6.592	0.22651	0.1795:0.7281:0.0:0.0924	.	559;696;656;715	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	656;652;646;559;696;656;652;696	ENSP00000452120:A656S;ENSP00000257879:A652S;ENSP00000343009:A646S;ENSP00000393844:A559S;ENSP00000257880:A696S;ENSP00000377777:A656S;ENSP00000377776:A652S;ENSP00000452387:A696S	ENSP00000257879:A652S	A	-	1	0	ITGA7	54375622	0.024000	0.19004	0.764000	0.31436	0.943000	0.58893	0.650000	0.24858	1.160000	0.42584	0.561000	0.74099	GCC		0.587	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		14	47	1	0	1.3612e-06	0.003163	1.79244e-06	14	47				
PMEL	6490	broad.mit.edu	37	12	56351763	56351763	+	Missense_Mutation	SNP	C	C	A	rs145035997		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:56351763C>A	ENST00000548747.1	-	5	1237	c.575G>T	c.(574-576)cGg>cTg	p.R192L	PMEL_ENST00000550447.1_Intron|PMEL_ENST00000548493.1_Missense_Mutation_p.R192L|PMEL_ENST00000536427.1_Missense_Mutation_p.R192L|PMEL_ENST00000552882.1_Missense_Mutation_p.R192L|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Missense_Mutation_p.R106L|PMEL_ENST00000550464.1_Missense_Mutation_p.R106L|PMEL_ENST00000449260.2_Missense_Mutation_p.R192L|PMEL_ENST00000360714.4_Missense_Mutation_p.R192L			P40967	PMEL_HUMAN	premelanosome protein	192					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGGATCCCCGGCGATGGTA	0.567																																							uc001sip.2		NA																	0					0						c.(574-576)CGG>CTG		silver homolog							93.0	81.0	85.0					12																	56351763		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351763C>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.575G>T	12.37:g.56351763C>A	ENSP00000448828:p.Arg192Leu					SILV_uc001siq.2_Missense_Mutation_p.R192L|SILV_uc010spx.1_Missense_Mutation_p.R106L|SILV_uc001sir.2_Missense_Mutation_p.R192L	p.R192L	NM_006928	NP_008859	P40967	PMEL_HUMAN			5	606	-			192					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.575G>T	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253370	0.80135	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000546543	T;T;T;T;T;T;T;T;T	0.16196	2.64;2.65;2.68;2.65;2.65;2.64;2.36;2.68;2.66	4.68	3.79	0.43588	.	0.000000	0.47455	D	0.000225	T	0.43612	0.1255	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.50398	-0.8833	10	0.87932	D	0	-0.0621	12.6109	0.56549	0.0:0.9169:0.0:0.0831	.	106;192;192	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	L	192;192;106;192;192;192;192;106;143	ENSP00000402758:R192L;ENSP00000449690:R192L;ENSP00000450036:R106L;ENSP00000448828:R192L;ENSP00000447374:R192L;ENSP00000353940:R192L;ENSP00000438695:R192L;ENSP00000445005:R106L;ENSP00000446662:R143L	ENSP00000353940:R192L	R	-	2	0	PMEL	54638030	1.000000	0.71417	0.991000	0.47740	0.708000	0.40852	5.241000	0.65384	1.578000	0.49821	0.655000	0.94253	CGG		0.567	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		22	33	1	0	1.50039e-11	0.012319	2.37271e-11	22	33				
PAN2	9924	broad.mit.edu	37	12	56726626	56726626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:56726626C>A	ENST00000425394.2	-	2	629	c.253G>T	c.(253-255)Gag>Tag	p.E85*	PAN2_ENST00000440411.3_Nonsense_Mutation_p.E85*|PAN2_ENST00000548043.1_Nonsense_Mutation_p.E85*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.E85*	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGCATCTCCTCGTGCAAGTCA	0.512																																							uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(253-255)GAG>TAG		PAN2 polyA specific ribonuclease subunit homolog							138.0	131.0	134.0					12																	56726626		2203	4300	6503	SO:0001587	stop_gained	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56726626C>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.253G>T	12.37:g.56726626C>A	ENSP00000401721:p.Glu85*					PAN2_uc001skz.2_Nonsense_Mutation_p.E85*|PAN2_uc001sky.2_Nonsense_Mutation_p.E85*	p.E85*	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			2	626	-			85						Nonsense_Mutation	SNP	ENST00000425394.2	37	c.253G>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	39	7.490417	0.98316	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-16.8717	15.5022	0.75709	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000257931:E85X	E	-	1	0	PAN2	55012893	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.260000	0.74910	0.585000	0.79938	GAG		0.512	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		21	67	1	0	1.55795e-14	0.012319	2.67526e-14	21	67				
ARHGAP9	64333	broad.mit.edu	37	12	57872537	57872537	+	Missense_Mutation	SNP	G	G	T	rs142371581	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:57872537G>T	ENST00000356411.2	-	3	458	c.320C>A	c.(319-321)cCg>cAg	p.P107Q	ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P107Q|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P178Q|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P186Q|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P107Q			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	107					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAACAACTTCGGCCCTGGAAA	0.567																																							uc001sod.2		NA																	0				lung(1)	1						c.(532-534)CCG>CAG		Rho GTPase activating protein 9 isoform 1							35.0	35.0	35.0					12																	57872537		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872537G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.320C>A	12.37:g.57872537G>T	ENSP00000348782:p.Pro107Gln					ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.P107Q|ARHGAP9_uc001soc.2_Missense_Mutation_p.P107Q|ARHGAP9_uc001soe.1_Missense_Mutation_p.P186Q|ARHGAP9_uc010sro.1_Missense_Mutation_p.P107Q	p.P178Q	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		6	726	-			107					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.533C>A		.	.	.	.	.	.	.	.	.	.	G	11.89	1.772555	0.31411	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000552249	T;T;T;T;T	0.48201	3.02;3.02;1.68;2.97;0.82	4.49	3.53	0.40419	.	0.925553	0.09095	N	0.849309	T	0.50973	0.1647	L	0.44542	1.39	0.09310	N	1	D;P;P;P;P	0.54397	0.966;0.866;0.882;0.772;0.662	P;B;P;B;B	0.52189	0.692;0.346;0.674;0.424;0.346	T	0.39702	-0.9601	10	0.66056	D	0.02	.	9.9321	0.41528	0.0:0.207:0.793:0.0	.	107;186;107;107;107	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	Q	107;107;107;178;156;25	ENSP00000377380:P107Q;ENSP00000348782:P107Q;ENSP00000394307:P107Q;ENSP00000377386:P178Q;ENSP00000448358:P25Q	ENSP00000344852:P156Q	P	-	2	0	ARHGAP9	56158804	0.157000	0.22836	0.246000	0.24233	0.010000	0.07245	1.406000	0.34646	2.517000	0.84864	0.655000	0.94253	CCG		0.567	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		8	21	1	0	0.000157383	0.00308	0.000182879	8	21				
CTDSP2	10106	broad.mit.edu	37	12	58220837	58220837	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:58220837T>C	ENST00000398073.2	-	4	599	c.296A>G	c.(295-297)cAa>cGa	p.Q99R	MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Intron	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	99	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GATCCTTCCTTGATCTTCCTC	0.502																																							uc001sqm.2		NA																	0				central_nervous_system(1)	1						c.(295-297)CAA>CGA		nuclear LIM interactor-interacting factor 2							109.0	106.0	107.0					12																	58220837		1962	4145	6107	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58220837T>C	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.296A>G	12.37:g.58220837T>C	ENSP00000381148:p.Gln99Arg					CTDSP2_uc010ssg.1_5'Flank|CTDSP2_uc009zqf.2_5'UTR|CTDSP2_uc009zqg.2_Intron|uc001sqn.2_5'Flank|MIR26A2_hsa-mir-26a-2|MI0000750_5'Flank	p.Q99R	NM_005730	NP_005721	O14595	CTDS2_HUMAN			4	825	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		99			FCP1 homology.		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.296A>G	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155146	0.38021	.	.	ENSG00000175215	ENST00000398073	T	0.16897	2.31	4.92	4.92	0.64577	NLI interacting factor (1);HAD-like domain (2);	0.055015	0.64402	D	0.000001	T	0.10852	0.0265	N	0.17474	0.49	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.15464	-1.0436	10	0.14252	T	0.57	-15.1998	13.9525	0.64126	0.0:0.0:0.0:1.0	.	99	O14595	CTDS2_HUMAN	R	99	ENSP00000381148:Q99R	ENSP00000381148:Q99R	Q	-	2	0	CTDSP2	56507104	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.072000	0.50049	2.193000	0.70182	0.460000	0.39030	CAA		0.502	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		26	39	0	0	0	0.005443	0	26	39				
DPY19L2	283417	broad.mit.edu	37	12	63987882	63987882	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:63987882G>C	ENST00000324472.4	-	16	1748	c.1565C>G	c.(1564-1566)aCa>aGa	p.T522R		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	522					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAATGTTTGTAGCTAAAAC	0.239																																							uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1564-1566)ACA>AGA		dpy-19-like 2							29.0	30.0	30.0					12																	63987882		2179	4255	6434	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63987882G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1565C>G	12.37:g.63987882G>C	ENSP00000315988:p.Thr522Arg					DPY19L2_uc009zqk.1_RNA	p.T522R	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	16	1746	-			522					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1565C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	4.221	0.039878	0.08148	.	.	ENSG00000177990	ENST00000324472	T	0.52295	0.67	3.18	2.17	0.27698	.	1.346300	0.04761	N	0.426246	T	0.44746	0.1308	L	0.46157	1.445	0.80722	D	1	B	0.23806	0.091	B	0.33121	0.158	T	0.45366	-0.9266	9	.	.	.	.	6.9169	0.24365	0.0:0.0:0.7256:0.2744	.	522	Q6NUT2	D19L2_HUMAN	R	522	ENSP00000315988:T522R	.	T	-	2	0	DPY19L2	62274149	0.993000	0.37304	0.983000	0.44433	0.184000	0.23303	1.677000	0.37576	1.776000	0.52262	0.306000	0.20318	ACA		0.239	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		12	14	0	0	0	0.001855	0	12	14				
DPY19L2	283417	broad.mit.edu	37	12	64041051	64041051	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:64041051G>A	ENST00000324472.4	-	5	866	c.683C>T	c.(682-684)cCt>cTt	p.P228L	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	228					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCATTAAGAGGTTCTATTCT	0.323																																							uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(682-684)CCT>CTT		dpy-19-like 2							36.0	38.0	38.0					12																	64041051		2198	4287	6485	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041051G>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.683C>T	12.37:g.64041051G>A	ENSP00000315988:p.Pro228Leu					DPY19L2_uc009zqk.1_RNA	p.P228L	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	864	-			228					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.683C>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	9.942	1.217891	0.22373	.	.	ENSG00000177990	ENST00000324472	T	0.39997	1.05	2.35	0.0401	0.14207	.	0.416749	0.23724	U	0.045189	T	0.33818	0.0876	L	0.60455	1.87	0.22500	N	0.999045	B	0.29805	0.257	B	0.36030	0.216	T	0.16600	-1.0397	9	.	.	.	.	3.0816	0.06264	0.1862:0.2891:0.5247:0.0	.	228	Q6NUT2	D19L2_HUMAN	L	228	ENSP00000315988:P228L	.	P	-	2	0	DPY19L2	62327318	1.000000	0.71417	0.896000	0.35187	0.741000	0.42261	2.156000	0.42310	0.309000	0.22966	0.184000	0.17185	CCT		0.323	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		10	33	0	0	0	0.001855	0	10	33				
GRIP1	23426	broad.mit.edu	37	12	66773138	66773138	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:66773138G>T	ENST00000398016.3	-	19	2455	c.2387C>A	c.(2386-2388)cCa>cAa	p.P796Q	GRIP1_ENST00000286445.7_Missense_Mutation_p.P848Q|GRIP1_ENST00000359742.4_Missense_Mutation_p.P848Q	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTAGTGACTGGGGACAAGCT	0.483																																							uc001stk.2		NA																	0				ovary(2)	2						c.(2386-2388)CCA>CAA		glutamate receptor interacting protein 1							189.0	184.0	185.0					12																	66773138		1913	4132	6045	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66773138G>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2387C>A	12.37:g.66773138G>T	ENSP00000381098:p.Pro796Gln					GRIP1_uc010sta.1_Missense_Mutation_p.P740Q|GRIP1_uc001stj.2_Missense_Mutation_p.P578Q|GRIP1_uc001stl.1_Missense_Mutation_p.P688Q|GRIP1_uc001stm.2_Missense_Mutation_p.P796Q	p.P796Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	19	2628	-			848					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2387C>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.284638|3.284638	0.59867|0.59867	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	D;D;D;D;D;D|.	0.86097|.	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.219359|.	0.48286|.	N|.	0.000188|.	T|T	0.76399|0.76399	0.3982|0.3982	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	P;P;B;D|.	0.60160|.	0.889;0.954;0.171;0.987|.	P;P;B;P|.	0.62089|.	0.726;0.548;0.137;0.898|.	T|T	0.76605|0.76605	-0.2898|-0.2898	9|5	.|.	.|.	.|.	-12.495|-12.495	18.3867|18.3867	0.90469|0.90469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	796;848;796;848|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	Q|K	796;848;848;796;740;688|663	ENSP00000381098:P796Q;ENSP00000352780:P848Q;ENSP00000286445:P848Q;ENSP00000446047:P796Q;ENSP00000446024:P740Q;ENSP00000446011:P688Q|.	.|.	P|Q	-|-	2|1	0|0	GRIP1|GRIP1	65059405|65059405	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.243000|0.243000	0.25628|0.25628	9.040000|9.040000	0.93783|0.93783	2.639000|2.639000	0.89480|0.89480	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.483	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			13	124	1	0	6.31663e-08	0.003163	8.85996e-08	13	124				
LGR5	8549	broad.mit.edu	37	12	71977430	71977430	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:71977430C>G	ENST00000266674.5	+	18	1951	c.1640C>G	c.(1639-1641)cCc>cGc	p.P547R	LGR5_ENST00000540815.2_Missense_Mutation_p.P523R|LGR5_ENST00000536515.1_Missense_Mutation_p.P475R|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	547					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTTCTAGGCCCCTTCAAACCC	0.428																																							uc001swl.2		NA																	0				lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1639-1641)CCC>CGC		leucine-rich repeat-containing G protein-coupled							182.0	175.0	178.0					12																	71977430		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977430C>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1640C>G	12.37:g.71977430C>G	ENSP00000266674:p.Pro547Arg					LGR5_uc001swm.2_Missense_Mutation_p.P523R|LGR5_uc001swn.1_RNA	p.P547R	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	1688	+			547			Extracellular (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1640C>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289494	0.80914	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.92446	-3.04;-3.04;-3.04	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000007	D	0.96614	0.8895	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.96758	0.9559	10	0.87932	D	0	.	19.812	0.96551	0.0:1.0:0.0:0.0	.	523;547	O75473-2;O75473	.;LGR5_HUMAN	R	547;547;475;523	ENSP00000266674:P547R;ENSP00000443033:P475R;ENSP00000441035:P523R	ENSP00000266674:P547R	P	+	2	0	LGR5	70263697	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.770000	0.85390	2.685000	0.91497	0.655000	0.94253	CCC		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		23	81	0	0	0	0.00333	0	23	81				
NAP1L1	4673	broad.mit.edu	37	12	76453598	76453598	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:76453598C>T	ENST00000261182.8	-	6	895	c.409G>A	c.(409-411)Gat>Aat	p.D137N	NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D137N|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D96N|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D137N|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D74N|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D137N|NAP1L1_ENST00000547993.1_5'Flank|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D96N|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D137N	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	137	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCTTCTTCATCTGGTTTCCAT	0.289																																							uc001sxw.2		NA																	0				ovary(1)|skin(1)	2						c.(409-411)GAT>AAT		nucleosome assembly protein 1-like 1							94.0	90.0	92.0					12																	76453598		2202	4297	6499	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76453598C>T		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.409G>A	12.37:g.76453598C>T	ENSP00000261182:p.Asp137Asn					NAP1L1_uc001sxv.2_Missense_Mutation_p.D95N|NAP1L1_uc001sxz.2_Intron|NAP1L1_uc001sxx.2_Missense_Mutation_p.D137N|NAP1L1_uc001sxy.2_Missense_Mutation_p.D74N|NAP1L1_uc010sty.1_Missense_Mutation_p.D95N|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Missense_Mutation_p.D137N|NAP1L1_uc001syb.2_Missense_Mutation_p.D137N|NAP1L1_uc001sya.2_Missense_Mutation_p.D95N|NAP1L1_uc001syc.2_Missense_Mutation_p.D137N	p.D137N	NM_139207	NP_631946	P55209	NP1L1_HUMAN			6	821	-		Colorectal(145;0.09)	137			Asp/Glu-rich (acidic).		B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.409G>A	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.760842	0.96906	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000551992;ENST00000548273;ENST00000547704;ENST00000551524	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;1.78	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.58354	1.805	0.80722	D	1	D;P;P;D;B;P	0.57899	0.981;0.915;0.848;0.969;0.338;0.795	P;P;P;P;B;P	0.62298	0.876;0.836;0.628;0.9;0.26;0.714	T	0.56098	-0.8035	10	0.42905	T	0.14	.	19.3898	0.94576	0.0:1.0:0.0:0.0	.	137;96;137;137;74;137	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;F8W543;P55209	.;.;.;.;.;NP1L1_HUMAN	N	137;131;137;74;96;137;137;137;96;137;96;137;96	ENSP00000261182:D137N;ENSP00000450236:D131N;ENSP00000376947:D137N;ENSP00000448167:D74N;ENSP00000444759:D96N;ENSP00000445008:D137N;ENSP00000447793:D137N;ENSP00000447196:D137N;ENSP00000449649:D96N;ENSP00000448764:D137N;ENSP00000446787:D96N;ENSP00000446756:D137N;ENSP00000448661:D96N	ENSP00000261182:D137N	D	-	1	0	NAP1L1	74739865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.306000	0.78905	2.743000	0.94032	0.644000	0.83932	GAT		0.289	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		8	25	0	0	0	0.00308	0	8	25				
NAV3	89795	broad.mit.edu	37	12	78522620	78522620	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:78522620C>A	ENST00000397909.2	+	18	4588	c.4415C>A	c.(4414-4416)gCt>gAt	p.A1472D	NAV3_ENST00000536525.2_Missense_Mutation_p.A1472D|NAV3_ENST00000266692.7_Missense_Mutation_p.A1295D|NAV3_ENST00000228327.6_Missense_Mutation_p.A1472D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1472	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTCTGCAGCTGGAAAATAC	0.443										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4414-4416)GCT>GAT		neuron navigator 3							95.0	91.0	92.0					12																	78522620		1869	4111	5980	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78522620C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4415C>A	12.37:g.78522620C>A	ENSP00000381007:p.Ala1472Asp	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.A1472D|NAV3_uc010sub.1_Missense_Mutation_p.A958D|NAV3_uc009zsf.2_Missense_Mutation_p.A303D	p.A1472D	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			18	4588	+			1472			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4415C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.59|15.59	2.877595|2.877595	0.51801|0.51801	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29142|.	1.72;1.72;1.73;1.58;2.51|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.171732|.	0.26761|.	U|.	0.022623|.	T|T	0.66548|0.66548	0.2800|0.2800	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26258|.	0.089;0.018;0.145;0.045|.	B;B;B;B|.	0.28784|.	0.045;0.032;0.094;0.024|.	T|T	0.59963|0.59963	-0.7355|-0.7355	10|5	0.30078|.	T|.	0.28|.	-10.5303|-10.5303	20.0755|20.0755	0.97742|0.97742	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1472;1295;1472;1472|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	D|R	1472;1472;1472;1295;93;101|366	ENSP00000446132:A1472D;ENSP00000381007:A1472D;ENSP00000228327:A1472D;ENSP00000266692:A1295D;ENSP00000448303:A101D|.	ENSP00000228327:A1472D|.	A|S	+|+	2|3	0|2	NAV3|NAV3	77046751|77046751	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	4.682000|4.682000	0.61671|0.61671	2.749000|2.749000	0.94314|0.94314	0.460000|0.460000	0.39030|0.39030	GCT|AGC		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		17	33	1	0	3.52763e-06	0.00499	4.5192e-06	17	33				
MYF6	4618	broad.mit.edu	37	12	81101569	81101569	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:81101569C>T	ENST00000228641.3	+	1	293	c.71C>T	c.(70-72)cCa>cTa	p.P24L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	24					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACTCTGCAGCCATTAGAAGTG	0.527																																							uc001szf.1		NA																	0				central_nervous_system(1)	1						c.(70-72)CCA>CTA		myogenic factor 6							95.0	98.0	97.0					12																	81101569		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101569C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.71C>T	12.37:g.81101569C>T	ENSP00000228641:p.Pro24Leu						p.P24L	NM_002469	NP_002460	P23409	MYF6_HUMAN			1	124	+			24					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.71C>T	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216788	0.39201	.	.	ENSG00000111046	ENST00000228641	T	0.75938	-0.98	5.62	4.65	0.58169	Myogenic basic muscle-specific protein (2);	0.279607	0.41097	D	0.000952	T	0.53818	0.1820	N	0.08118	0	0.54753	D	0.999982	B	0.23185	0.081	B	0.22152	0.038	T	0.53215	-0.8470	10	0.39692	T	0.17	.	11.1918	0.48690	0.4037:0.5963:0.0:0.0	.	24	P23409	MYF6_HUMAN	L	24	ENSP00000228641:P24L	ENSP00000228641:P24L	P	+	2	0	MYF6	79625700	0.998000	0.40836	0.963000	0.40424	0.985000	0.73830	3.842000	0.55858	2.662000	0.90505	0.655000	0.94253	CCA		0.527	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		25	49	0	0	0	0.00333	0	25	49				
SLC6A15	55117	broad.mit.edu	37	12	85270331	85270331	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:85270331C>A	ENST00000266682.5	-	6	1353	c.812G>T	c.(811-813)aGa>aTa	p.R271I	SLC6A15_ENST00000552192.1_Missense_Mutation_p.R164I|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	271					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AAGGAATGCTCTGATGAGGAA	0.318																																							uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(811-813)AGA>ATA		solute carrier family 6, member 15 isoform 1							86.0	86.0	86.0					12																	85270331		2203	4295	6498	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270331C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.812G>T	12.37:g.85270331C>A	ENSP00000266682:p.Arg271Ile					SLC6A15_uc010sul.1_Missense_Mutation_p.R164I	p.R271I	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			6	1305	-			271					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.812G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896574	0.72639	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	T;T	0.78481	-1.18;-1.18	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94180	0.7431	10	0.87932	D	0	.	19.9077	0.97014	0.0:1.0:0.0:0.0	.	271	Q9H2J7	S6A15_HUMAN	I	271;164	ENSP00000266682:R271I;ENSP00000450145:R164I	ENSP00000266682:R271I	R	-	2	0	SLC6A15	83794462	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	7.487000	0.81328	2.712000	0.92718	0.561000	0.74099	AGA		0.318	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		19	34	1	0	2.32416e-17	0.002299	4.15465e-17	19	34				
LRRIQ1	84125	broad.mit.edu	37	12	85466740	85466740	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:85466740C>T	ENST00000393217.2	+	11	2812	c.2751C>T	c.(2749-2751)caC>caT	p.H917H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	917										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTGCCATCACTTGGGCACCT	0.398																																							uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2749-2751)CAC>CAT		leucine-rich repeats and IQ motif containing 1							100.0	87.0	91.0					12																	85466740		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85466740C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2751C>T	12.37:g.85466740C>T						LRRIQ1_uc001tab.1_Silent_p.H917H	p.H917H	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	2862	+			917					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2751C>T	CCDS41816.1																																																																																				0.398	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		14	19	0	0	0	0.003163	0	14	19				
ANKS1B	56899	broad.mit.edu	37	12	100169423	100169423	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:100169423C>A	ENST00000547776.2	-	7	863	c.864G>T	c.(862-864)gtG>gtT	p.V288V	ANKS1B_ENST00000329257.7_Silent_p.V288V|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	288						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TAGATCTTCCCACGCCTTCTA	0.348																																							uc001tge.1		NA																	0					0						c.(862-864)GTG>GTT		cajalin 2 isoform a							120.0	106.0	110.0					12																	100169423		1851	4090	5941	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100169423C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.864G>T	12.37:g.100169423C>A						ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.V254V	p.V288V	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	7	1281	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	288					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.864G>T	CCDS55872.1																																																																																				0.348	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		9	22	1	0	0.000673444	0.008291	0.00075369	9	22				
SCYL2	55681	broad.mit.edu	37	12	100728014	100728014	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:100728014A>T	ENST00000360820.2	+	14	2269	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	611					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACTAAACTGGAGCAACTTCAT	0.328																																							uc001thn.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(1831-1833)GAG>GTG		SCY1-like 2 protein							111.0	109.0	110.0					12																	100728014		2203	4296	6499	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100728014A>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1832A>T	12.37:g.100728014A>T	ENSP00000354061:p.Glu611Val					SCYL2_uc001thm.1_Missense_Mutation_p.E611V	p.E611V	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			14	1882	+			611					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1832A>T	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.966164	0.92855	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.34072	1.75;1.38	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.61676	-0.7014	10	0.59425	D	0.04	.	15.6868	0.77418	1.0:0.0:0.0:0.0	.	611	Q6P3W7	SCYL2_HUMAN	V	611	ENSP00000448366:E611V;ENSP00000354061:E611V	ENSP00000354061:E611V	E	+	2	0	SCYL2	99252145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.078000	0.94023	2.153000	0.67306	0.477000	0.44152	GAG		0.328	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		16	36	0	0	0	0.008871	0	16	36				
SLC5A8	160728	broad.mit.edu	37	12	101551060	101551060	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:101551060C>T	ENST00000536262.2	-	15	2388	c.1830G>A	c.(1828-1830)ttG>ttA	p.L610L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCAGCTTCACAAACGAGTCC	0.373																																					GBM(60;420 1056 13605 22380 47675)	GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(1828-1830)TTG>TTA		solute carrier family 5 (iodide transporter),							132.0	116.0	122.0					12																	101551060		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101551060C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1830G>A	12.37:g.101551060C>T							p.L610L	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			15	2220	-			610			Cytoplasmic (Potential).			Silent	SNP	ENST00000536262.2	37	c.1830G>A	CCDS9080.1																																																																																				0.373	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	22	0	0	0	0.009096	0	4	22				
MYBPC1	4604	broad.mit.edu	37	12	102038463	102038463	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:102038463C>A	ENST00000550270.1	+	10	779	c.779C>A	c.(778-780)cCt>cAt	p.P260H	MYBPC1_ENST00000545503.2_Missense_Mutation_p.P260H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P285H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P247H|MYBPC1_ENST00000549145.1_Missense_Mutation_p.P273H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P234H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P248H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P260H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P246H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P285H|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P241H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P161H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P260H|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P260H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P260H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	260	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTCTTGATCCTGCATATCAG	0.348																																							uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(778-780)CCT>CAT		myosin binding protein C, slow type isoform 3							75.0	72.0	73.0					12																	102038463		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102038463C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.779C>A	12.37:g.102038463C>A	ENSP00000449702:p.Pro260His					MYBPC1_uc001tif.1_Missense_Mutation_p.P273H|MYBPC1_uc001tig.2_Missense_Mutation_p.P285H|MYBPC1_uc010svq.1_Missense_Mutation_p.P247H|MYBPC1_uc001tih.2_Missense_Mutation_p.P285H|MYBPC1_uc001tij.2_Missense_Mutation_p.P260H|MYBPC1_uc010svr.1_Missense_Mutation_p.P260H|MYBPC1_uc010svs.1_Missense_Mutation_p.P260H|MYBPC1_uc010svt.1_Missense_Mutation_p.P248H|MYBPC1_uc010svu.1_Missense_Mutation_p.P241H|MYBPC1_uc001tik.2_Missense_Mutation_p.P234H	p.P260H	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			10	881	+			260			Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.779C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665168	0.88251	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.19;0.17;0.16;0.17;0.18;0.15;0.18;0.16;0.18;0.16;0.23;0.17;0.17;0.22;0.17	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000092	T	0.77658	0.4163	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.995;1.0;0.999;1.0;0.999;0.995;1.0;1.0;0.996;1.0;1.0	T	0.79200	-0.1901	10	0.87932	D	0	.	19.4511	0.94867	0.0:1.0:0.0:0.0	.	241;248;260;260;247;234;260;260;285;285;273	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	H	234;260;260;260;247;246;285;273;260;285;260;241;248;285;161;260	ENSP00000448175:P234H;ENSP00000400908:P260H;ENSP00000388989:P260H;ENSP00000353822:P260H;ENSP00000376665:P247H;ENSP00000447362:P246H;ENSP00000354845:P285H;ENSP00000447660:P273H;ENSP00000447900:P260H;ENSP00000440034:P260H;ENSP00000446128:P241H;ENSP00000442847:P248H;ENSP00000354849:P285H;ENSP00000447116:P161H;ENSP00000449702:P260H	ENSP00000353822:P260H	P	+	2	0	MYBPC1	100562594	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.694000	0.91930	0.655000	0.94253	CCT		0.348	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			4	18	1	0	0.00024832	0.009096	0.000286393	4	18				
BTBD11	121551	broad.mit.edu	37	12	107712990	107712990	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:107712990G>T	ENST00000280758.5	+	1	801	c.273G>T	c.(271-273)ctG>ctT	p.L91L	BTBD11_ENST00000420571.2_Silent_p.L91L|BTBD11_ENST00000490090.2_Silent_p.L91L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	91						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCGGCTGCTGCCGGACCTAG	0.706																																							uc001tmk.1		NA																	0				skin(2)|ovary(1)	3						c.(271-273)CTG>CTT		BTB (POZ) domain containing 11 isoform a							8.0	10.0	9.0					12																	107712990		2190	4280	6470	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:107712990G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.273G>T	12.37:g.107712990G>T						BTBD11_uc009zut.1_Silent_p.L91L|BTBD11_uc001tmj.2_Silent_p.L91L	p.L91L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			1	794	+			91					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.273G>T	CCDS31893.1																																																																																				0.706	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		3	6	1	0	6.4e-05	0.004672	7.65288e-05	3	6				
SSH1	54434	broad.mit.edu	37	12	109182873	109182873	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:109182873C>A	ENST00000326495.5	-	15	2134	c.2041G>T	c.(2041-2043)Gcc>Tcc	p.A681S	SSH1_ENST00000360239.3_Missense_Mutation_p.A369S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	681					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTAGGAAGGCTGGCTGGGTG	0.657																																							uc001tnm.2		NA																	0				ovary(4)	4						c.(2041-2043)GCC>TCC		slingshot 1 isoform 1							42.0	42.0	42.0					12																	109182873		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182873C>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2041G>T	12.37:g.109182873C>A	ENSP00000315713:p.Ala681Ser					SSH1_uc001tnl.2_Missense_Mutation_p.A369S	p.A681S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			15	2128	-			681					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2041G>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	6.882	0.532191	0.13127	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.80994	-1.44;-1.44	5.19	-3.05	0.05396	.	1.575820	0.03139	N	0.166371	T	0.53514	0.1801	N	0.08118	0	0.09310	N	1	B;B	0.33940	0.009;0.433	B;B	0.33454	0.006;0.164	T	0.53599	-0.8416	10	0.06099	T	0.92	-7.0972	0.7786	0.01036	0.199:0.2415:0.1589:0.4006	.	681;369	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	369;681	ENSP00000353374:A369S;ENSP00000315713:A681S	ENSP00000315713:A681S	A	-	1	0	SSH1	107707002	0.001000	0.12720	0.066000	0.19879	0.414000	0.31173	-0.394000	0.07296	-0.143000	0.11334	0.650000	0.86243	GCC		0.657	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		9	14	1	0	0.000442599	0.006214	0.000502282	9	14				
SSH1	54434	broad.mit.edu	37	12	109200079	109200079	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:109200079C>G	ENST00000326495.5	-	9	916	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	SSH1_ENST00000551165.1_Missense_Mutation_p.E275Q|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.E286Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	275					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTCTTACCTCTTTGGAAGTC	0.527																																							uc001tnm.2		NA																	0				ovary(4)	4						c.(823-825)GAG>CAG		slingshot 1 isoform 1							261.0	222.0	235.0					12																	109200079		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109200079C>G	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.823G>C	12.37:g.109200079C>G	ENSP00000315713:p.Glu275Gln					SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Missense_Mutation_p.E286Q|SSH1_uc001tnn.3_Missense_Mutation_p.E275Q	p.E275Q	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			9	910	-			275					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.823G>C	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973459	0.53614	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470	T;T;T	0.37584	1.19;1.19;1.19	5.84	5.84	0.93424	DEK, C-terminal (1);	0.095542	0.64402	D	0.000001	T	0.30947	0.0781	N	0.11560	0.145	0.80722	D	1	B;B;B	0.32338	0.067;0.365;0.226	B;B;B	0.41174	0.051;0.09;0.349	T	0.14980	-1.0453	10	0.36615	T	0.2	-29.5518	19.1247	0.93378	0.0:1.0:0.0:0.0	.	286;275;275	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	Q	275;275;286	ENSP00000315713:E275Q;ENSP00000448824:E275Q;ENSP00000326107:E286Q	ENSP00000326107:E286Q	E	-	1	0	SSH1	107724208	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.093000	0.64517	2.768000	0.95171	0.643000	0.83706	GAG		0.527	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		47	78	0	0	0	0.00361	0	47	78				
MYL2	4633	broad.mit.edu	37	12	111351114	111351114	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:111351114C>T	ENST00000228841.8	-	5	336	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	MYL2_ENST00000548438.1_Missense_Mutation_p.E83K	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	97	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						AGAATGGTTTCCTCAGGGTCC	0.587																																					GBM(14;268 426 18829 21617 25540)	GBM(14;268 426 18829 21617 25540)	uc001try.3		NA																	0				ovary(1)	1						c.(289-291)GAA>AAA		slow cardiac myosin regulatory light chain 2							121.0	103.0	109.0					12																	111351114		2203	4300	6503	SO:0001583	missense	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111351114C>T		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.289G>A	12.37:g.111351114C>T	ENSP00000228841:p.Glu97Lys					MYL2_uc001trx.3_Missense_Mutation_p.E78K	p.E97K	NM_000432	NP_000423	P10916	MLRV_HUMAN			5	360	-			97			EF-hand 2.		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.289G>A	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281444	0.80692	.	.	ENSG00000111245	ENST00000228841;ENST00000548438;ENST00000550439	T;T	0.80994	-1.44;-1.44	5.07	5.07	0.68467	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89357	0.6692	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.90699	0.4619	10	0.87932	D	0	.	17.2184	0.86950	0.0:1.0:0.0:0.0	.	97	P10916	MLRV_HUMAN	K	97;83;78	ENSP00000228841:E97K;ENSP00000447154:E83K	ENSP00000228841:E97K	E	-	1	0	MYL2	109835497	1.000000	0.71417	0.997000	0.53966	0.239000	0.25481	7.145000	0.77365	2.356000	0.79943	0.561000	0.74099	GAA		0.587	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		15	27	0	0	0	0.003163	0	15	27				
CUX2	23316	broad.mit.edu	37	12	111729346	111729346	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:111729346C>A	ENST00000261726.6	+	5	580	c.426C>A	c.(424-426)ctC>ctA	p.L142L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	142					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGAGCTCCTCAGCCCCAAAG	0.602																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(424-426)CTC>CTA		cut-like 2							33.0	38.0	36.0					12																	111729346		1884	4120	6004	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111729346C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.426C>A	12.37:g.111729346C>A						CUX2_uc001tsb.1_Silent_p.L197L	p.L142L	NM_015267	NP_056082	O14529	CUX2_HUMAN			5	579	+			142					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.426C>A	CCDS41837.1																																																																																				0.602	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	20	1	0	0.00621372	0.006214	0.00666455	8	20				
HECTD4	283450	broad.mit.edu	37	12	112622545	112622545	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:112622545C>T	ENST00000430131.2	-	60	10104	c.8959G>A	c.(8959-8961)Gac>Aac	p.D2987N	HECTD4_ENST00000377560.5_Missense_Mutation_p.D3237N|HECTD4_ENST00000550722.1_Missense_Mutation_p.D3263N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2987					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACGCCCTCGTCCAGGTGGGTG	0.667																																							uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(8959-8961)GAC>AAC		chromosome 12 open reading frame 51							127.0	152.0	144.0					12																	112622545		2098	4219	6317	SO:0001583	missense	283450							g.chr12:112622545C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8959G>A	12.37:g.112622545C>T	ENSP00000404379:p.Asp2987Asn						p.D2987N	NM_001109662	NP_001103132					54	8977	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.8959G>A		.	.	.	.	.	.	.	.	.	.	C	14.57	2.573915	0.45902	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.46819	0.86;0.86;0.86	5.55	5.55	0.83447	.	.	.	.	.	T	0.36082	0.0954	N	0.14661	0.345	0.48696	D	0.999695	B	0.23058	0.079	B	0.15870	0.014	T	0.20140	-1.0284	9	0.87932	D	0	.	19.4986	0.95083	0.0:1.0:0.0:0.0	.	2987	Q9Y4D8	K0614_HUMAN	N	3237;2987;3263	ENSP00000366783:D3237N;ENSP00000404379:D2987N;ENSP00000449784:D3263N	ENSP00000366783:D3237N	D	-	1	0	C12orf51	111106928	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	7.065000	0.76727	2.611000	0.88343	0.655000	0.94253	GAC		0.667	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		30	90	0	0	0	0.012213	0	30	90				
C12orf49	79794	broad.mit.edu	37	12	117175674	117175674	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:117175674C>T	ENST00000261318.3	-	1	192	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	RNFT2_ENST00000257575.4_5'Flank|RNFT2_ENST00000319176.7_5'Flank|RNFT2_ENST00000392549.2_5'Flank|C12orf49_ENST00000536380.1_Silent_p.P33P|RNFT2_ENST00000407967.3_5'Flank	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	11						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CCGCAGAAGCCGGCGCCACAC	0.731																																							uc001tvz.1		NA																	0				ovary(1)	1						c.(31-33)CGG>CAG		hypothetical protein LOC79794 precursor							32.0	25.0	27.0					12																	117175674		2199	4297	6496	SO:0001583	missense	79794					extracellular region		g.chr12:117175674C>T	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.32G>A	12.37:g.117175674C>T	ENSP00000261318:p.Arg11Gln					RNFT2_uc009zwn.2_5'Flank|RNFT2_uc001twb.3_5'Flank|RNFT2_uc001twa.3_5'Flank|C12orf49_uc009zwm.1_Silent_p.P33P	p.R11Q	NM_024738	NP_079014	Q9H741	CL049_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0281)	1	170	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		11					Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	37	c.32G>A	CCDS9179.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946868	0.92593	.	.	ENSG00000111412	ENST00000261318	T	0.55588	0.51	4.53	4.53	0.55603	.	0.061160	0.64402	D	0.000006	T	0.68054	0.2959	M	0.70275	2.135	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.72554	-0.4258	10	0.72032	D	0.01	-19.0013	14.588	0.68342	0.0:1.0:0.0:0.0	.	11	Q9H741	CL049_HUMAN	Q	11	ENSP00000261318:R11Q	ENSP00000261318:R11Q	R	-	2	0	C12orf49	115660057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.556000	0.53734	2.351000	0.79841	0.655000	0.94253	CGG		0.731	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738		6	8	0	0	0	0.001168	0	6	8				
NOS1	4842	broad.mit.edu	37	12	117685232	117685232	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:117685232C>T	ENST00000338101.4	-	18	2850	c.2846G>A	c.(2845-2847)aGg>aAg	p.R949K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R915K			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTTCAGGATCCTCTCCCCTCC	0.562																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(2743-2745)AGG>AAG		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						103.0	105.0	104.0					12																	117685232		1980	4163	6143	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117685232C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2846G>A	12.37:g.117685232C>T	ENSP00000337459:p.Arg949Lys						p.R915K	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	18	3430	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		915			FMN (By similarity).|Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2744G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702321	0.96812	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.76968	-1.06;-1.06	4.62	4.62	0.57501	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.87180	2.865	0.80722	D	1	D	0.55800	0.973	P	0.61940	0.896	D	0.90886	0.4757	10	0.72032	D	0.01	-27.5691	17.6803	0.88241	0.0:1.0:0.0:0.0	.	915	P29475	NOS1_HUMAN	K	810;915;915;949	ENSP00000320758:R915K;ENSP00000337459:R949K	ENSP00000320758:R915K	R	-	2	0	NOS1	116169615	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.928000	0.70088	2.408000	0.81797	0.655000	0.94253	AGG		0.562	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			19	49	0	0	0	0.008871	0	19	49				
ZCCHC8	55596	broad.mit.edu	37	12	122973980	122973980	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:122973980T>A	ENST00000336229.4	-	5	584	c.454A>T	c.(454-456)Aaa>Taa	p.K152*	ZCCHC8_ENST00000536306.1_5'UTR|ZCCHC8_ENST00000543897.1_5'UTR|SNORA9_ENST00000516383.1_RNA	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	152					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)		TCTTCCACTTTGTGGTCCTCC	0.368																																							uc001ucn.2		NA																	0					0						c.(454-456)AAA>TAA		zinc finger, CCHC domain containing 8							108.0	106.0	107.0					12																	122973980		1845	4097	5942	SO:0001587	stop_gained	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122973980T>A	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.454A>T	12.37:g.122973980T>A	ENSP00000337313:p.Lys152*					ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	p.K152*	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)	5	585	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		152					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Nonsense_Mutation	SNP	ENST00000336229.4	37	c.454A>T		.	.	.	.	.	.	.	.	.	.	T	18.54	3.646095	0.67358	.	.	ENSG00000033030	ENST00000336229	.	.	.	5.45	5.45	0.79879	.	0.299519	0.41294	D	0.000917	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-27.9339	13.2525	0.60060	0.0:0.0:0.0:1.0	.	.	.	.	X	152	.	ENSP00000337313:K152X	K	-	1	0	ZCCHC8	121539933	1.000000	0.71417	0.787000	0.31911	0.100000	0.18952	5.353000	0.66034	2.059000	0.61396	0.254000	0.18369	AAA		0.368	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		6	12	0	0	0	0.001984	0	6	12				
TMEM132B	114795	broad.mit.edu	37	12	126135313	126135313	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:126135313T>A	ENST00000299308.3	+	7	1721	c.1713T>A	c.(1711-1713)cgT>cgA	p.R571R	TMEM132B_ENST00000535886.1_Silent_p.R83R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	571						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCACAGTGCGTGTCCTCACCC	0.592																																							uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1711-1713)CGT>CGA		transmembrane protein 132B							73.0	83.0	79.0					12																	126135313		2186	4287	6473	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126135313T>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1713T>A	12.37:g.126135313T>A						TMEM132B_uc001uhf.1_Silent_p.R83R	p.R571R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	1721	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		571			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.1713T>A	CCDS41859.1																																																																																				0.592	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		10	30	0	0	0	0.010729	0	10	30				
ULK1	8408	broad.mit.edu	37	12	132403802	132403802	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:132403802T>G	ENST00000321867.4	+	24	2908	c.2557T>G	c.(2557-2559)Ttc>Gtc	p.F853V	ULK1_ENST00000540647.1_Missense_Mutation_p.F98V	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	853					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CACGCTGCTGTTCGTGCAGCA	0.682																																							uc001uje.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2557-2559)TTC>GTC		Unc-51-like kinase 1							29.0	28.0	29.0					12																	132403802		2196	4291	6487	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132403802T>G	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2557T>G	12.37:g.132403802T>G	ENSP00000324560:p.Phe853Val						p.F853V	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	24	2825	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		853					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2557T>G	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	t	27.3	4.815899	0.90790	.	.	ENSG00000177169	ENST00000321867;ENST00000541761;ENST00000540647	T;T;T	0.41400	1.0;1.69;1.0	5.29	5.29	0.74685	Serine/threonine-protein kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63519	-0.6619	10	0.72032	D	0.01	-29.7003	15.2325	0.73401	0.0:0.0:0.0:1.0	.	853	O75385	ULK1_HUMAN	V	853;201;98	ENSP00000324560:F853V;ENSP00000444298:F201V;ENSP00000441794:F98V	ENSP00000324560:F853V	F	+	1	0	ULK1	130969755	1.000000	0.71417	0.037000	0.18230	0.910000	0.53928	7.627000	0.83176	1.997000	0.58415	0.444000	0.29173	TTC		0.682	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			9	16	0	0	0	0.008291	0	9	16				
GOLGA3	2802	broad.mit.edu	37	12	133354352	133354352	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:133354352G>A	ENST00000450791.2	-	18	3805	c.3622C>T	c.(3622-3624)Cac>Tac	p.H1208Y	GOLGA3_ENST00000456883.2_Missense_Mutation_p.H1208Y|GOLGA3_ENST00000204726.3_Missense_Mutation_p.H1208Y			Q08378	GOGA3_HUMAN	golgin A3	1208					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCTTGAAGTGGCGGCGGTTA	0.617																																							uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3622-3624)CAC>TAC		Golgi autoantigen, golgin subfamily a, 3							45.0	41.0	42.0					12																	133354352		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133354352G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3622C>T	12.37:g.133354352G>A	ENSP00000410378:p.His1208Tyr					GOLGA3_uc001ula.1_Missense_Mutation_p.H1208Y	p.H1208Y	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	19	4181	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1208			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3622C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932127	0.92389	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.26067	1.76;1.76;1.76	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.51942	-0.8641	10	0.66056	D	0.02	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1208;1208	Q08378-2;Q08378	.;GOGA3_HUMAN	Y	1208	ENSP00000204726:H1208Y;ENSP00000410378:H1208Y;ENSP00000409303:H1208Y	ENSP00000204726:H1208Y	H	-	1	0	GOLGA3	131864425	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.579000	0.98204	2.631000	0.89168	0.561000	0.74099	CAC		0.617	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		11	11	0	0	0	0.008291	0	11	11				
GOLGA3	2802	broad.mit.edu	37	12	133372567	133372567	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:133372567C>A	ENST00000450791.2	-	10	2523	c.2340G>T	c.(2338-2340)gcG>gcT	p.A780A	GOLGA3_ENST00000537452.1_Silent_p.A780A|GOLGA3_ENST00000545875.1_Silent_p.A780A|GOLGA3_ENST00000456883.2_Silent_p.A780A|GOLGA3_ENST00000204726.3_Silent_p.A780A			Q08378	GOGA3_HUMAN	golgin A3	780					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTGCAAAGCCGCCTCCAAGA	0.587																																							uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2338-2340)GCG>GCT		Golgi autoantigen, golgin subfamily a, 3							61.0	62.0	62.0					12																	133372567		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133372567C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2340G>T	12.37:g.133372567C>A						GOLGA3_uc001ula.1_Silent_p.A780A|GOLGA3_uc001ulb.2_Silent_p.A780A	p.A780A	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	11	2899	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	780			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.2340G>T	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		12	31	1	0	2.27111e-07	0.001368	3.08624e-07	12	31				
LNX2	222484	broad.mit.edu	37	13	28122554	28122554	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:28122554T>A	ENST00000316334.3	-	10	2120	c.1991A>T	c.(1990-1992)cAc>cTc	p.H664L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	664	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TAGTGCAGAGTGGCTCATGCC	0.453																																							uc001url.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(1990-1992)CAC>CTC		ligand of numb-protein X 2							102.0	81.0	88.0					13																	28122554		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28122554T>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1991A>T	13.37:g.28122554T>A	ENSP00000325929:p.His664Leu						p.H664L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	10	2300	-		Lung SC(185;0.0156)	664			PDZ 4.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1991A>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578805	0.86645	.	.	ENSG00000139517	ENST00000316334	T	0.28255	1.62	5.98	4.78	0.61160	PDZ/DHR/GLGF (4);	0.046163	0.85682	D	0.000000	T	0.46756	0.1409	M	0.63169	1.94	0.80722	D	1	P	0.38048	0.616	P	0.51550	0.673	T	0.45425	-0.9262	10	0.87932	D	0	.	13.2921	0.60276	0.0:0.0:0.1324:0.8676	.	664	Q8N448	LNX2_HUMAN	L	664	ENSP00000325929:H664L	ENSP00000325929:H664L	H	-	2	0	LNX2	27020554	1.000000	0.71417	0.863000	0.33907	0.834000	0.47266	8.040000	0.89188	1.054000	0.40438	0.477000	0.44152	CAC		0.453	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			4	13	0	0	0	0.009096	0	4	13				
FLT1	2321	broad.mit.edu	37	13	29004227	29004227	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:29004227A>G	ENST00000282397.4	-	8	1317	c.1066T>C	c.(1066-1068)Tct>Cct	p.S356P	FLT1_ENST00000539099.1_Missense_Mutation_p.S356P|FLT1_ENST00000541932.1_Missense_Mutation_p.S356P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	356	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTTCATAGAGAGCCGGTAA	0.433																																							uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1066-1068)TCT>CCT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						114.0	108.0	110.0					13																	29004227		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29004227A>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1066T>C	13.37:g.29004227A>G	ENSP00000282397:p.Ser356Pro					FLT1_uc010aar.1_Missense_Mutation_p.S356P|FLT1_uc001usc.3_Missense_Mutation_p.S356P|FLT1_uc010tdp.1_Missense_Mutation_p.S356P	p.S356P	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	8	1351	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	356			Ig-like C2-type 4.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1066T>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	8.090	0.774255	0.16051	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.68331	-0.32;-0.32;-0.32	5.72	4.52	0.55395	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);	0.267280	0.37809	N	0.001927	T	0.47875	0.1469	N	0.25426	0.745	0.09310	N	1	B;B;B;B	0.23990	0.095;0.095;0.095;0.019	B;B;B;B	0.30029	0.11;0.11;0.11;0.056	T	0.37979	-0.9682	10	0.02654	T	1	.	8.7322	0.34505	0.803:0.1291:0.068:0.0	.	356;356;356;356	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	P	356	ENSP00000282397:S356P;ENSP00000437631:S356P;ENSP00000442630:S356P	ENSP00000282397:S356P	S	-	1	0	FLT1	27902227	0.995000	0.38212	0.008000	0.14137	0.701000	0.40568	3.502000	0.53332	0.957000	0.37930	0.533000	0.62120	TCT		0.433	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			13	46	0	0	0	0.00245	0	13	46				
PDS5B	23047	broad.mit.edu	37	13	33275556	33275556	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:33275556A>G	ENST00000315596.10	+	17	2023	c.1837A>G	c.(1837-1839)Ata>Gta	p.I613V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	613					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACCTGTGCACATAGATACCGA	0.393																																							uc010abf.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(1837-1839)ATA>GTA		PDS5, regulator of cohesion maintenance, homolog							83.0	78.0	80.0					13																	33275556		1835	4079	5914	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33275556A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1837A>G	13.37:g.33275556A>G	ENSP00000313851:p.Ile613Val					PDS5B_uc010abg.2_RNA	p.I613V	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	17	1995	+		Lung SC(185;0.0367)	613					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1837A>G	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266743	0.40095	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.18	5.18	0.71444	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	L	0.28556	0.865	0.58432	D	0.999999	P	0.38863	0.65	B	0.40375	0.327	T	0.44922	-0.9296	9	0.28530	T	0.3	-25.4175	15.315	0.74069	1.0:0.0:0.0:0.0	.	613	Q9NTI5	PDS5B_HUMAN	V	613	.	ENSP00000313851:I613V	I	+	1	0	PDS5B	32173556	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.181000	0.94874	2.085000	0.62840	0.533000	0.62120	ATA		0.393	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		13	6	0	0	0	0.001855	0	13	6				
NBEA	26960	broad.mit.edu	37	13	35615209	35615209	+	Missense_Mutation	SNP	G	G	T	rs267603808		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:35615209G>T	ENST00000400445.3	+	2	968	c.434G>T	c.(433-435)cGa>cTa	p.R145L	NBEA_ENST00000379939.2_Missense_Mutation_p.R145L|NBEA_ENST00000540320.1_Missense_Mutation_p.R145L|NBEA_ENST00000310336.4_Missense_Mutation_p.R145L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	145					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCATTCTACGAAAAAGTGTT	0.408																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(433-435)CGA>CTA		neurobeachin							98.0	90.0	93.0					13																	35615209		1890	4149	6039	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35615209G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.434G>T	13.37:g.35615209G>T	ENSP00000383295:p.Arg145Leu						p.R145L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	3	640	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	145					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.434G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125652	0.77436	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.46249	0.1383	L	0.48642	1.525	0.80722	D	1	P	0.48764	0.915	B	0.35510	0.204	T	0.54853	-0.8231	10	0.56958	D	0.05	.	19.2626	0.93974	0.0:0.0:1.0:0.0	.	145	Q5T321	.	L	145	ENSP00000440951:R145L;ENSP00000383295:R145L;ENSP00000369271:R145L;ENSP00000308534:R145L	ENSP00000308534:R145L	R	+	2	0	NBEA	34513209	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	5.764000	0.68826	2.544000	0.85801	0.585000	0.79938	CGA		0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		27	48	1	0	1.33986e-20	0.004656	2.47583e-20	27	48				
DCLK1	9201	broad.mit.edu	37	13	36367543	36367543	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:36367543G>T	ENST00000360631.3	-	16	2229	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	DCLK1_ENST00000379893.1_Missense_Mutation_p.P366H|DCLK1_ENST00000255448.4_Missense_Mutation_p.P673H			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	673					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATTCGGCTTGGGGCCTGTGTT	0.428																																							uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(2017-2019)CCC>CAC		doublecortin-like kinase 1							226.0	220.0	222.0					13																	36367543		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36367543G>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2018C>A	13.37:g.36367543G>T	ENSP00000353846:p.Pro673His					DCLK1_uc001uve.3_Missense_Mutation_p.P366H|DCLK1_uc010teh.1_Missense_Mutation_p.P366H|DCLK1_uc010abk.2_Missense_Mutation_p.P193H	p.P673H	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	16	2251	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	673					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.2018C>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.948985	0.73787	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893	T;T;T	0.68181	-0.28;-0.29;-0.31	5.49	5.49	0.81192	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	M	0.73962	2.25	0.43145	D	0.994902	D;D;D;D	0.64830	0.987;0.981;0.994;0.987	P;P;D;P	0.63381	0.834;0.823;0.914;0.834	T	0.78580	-0.2149	10	0.33141	T	0.24	.	19.3844	0.94551	0.0:0.0:1.0:0.0	.	366;673;673;366	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	H	365;673;673;366	ENSP00000255448:P673H;ENSP00000353846:P673H;ENSP00000369223:P366H	ENSP00000255448:P673H	P	-	2	0	DCLK1	35265543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.293000	0.72731	2.575000	0.86900	0.650000	0.86243	CCC		0.428	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		48	47	1	0	1.35964e-18	0.00361	2.46943e-18	48	47				
CSNK1A1L	122011	broad.mit.edu	37	13	37679016	37679016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:37679016G>T	ENST00000379800.3	-	1	787	c.378C>A	c.(376-378)taC>taA	p.Y126*		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	126	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTGTATGCACGTATTCAATTC	0.403																																							uc001uwm.1		NA																	0				large_intestine(1)	1						c.(376-378)TAC>TAA		casein kinase 1, alpha 1-like							180.0	165.0	170.0					13																	37679016		2203	4300	6503	SO:0001587	stop_gained	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679016G>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.378C>A	13.37:g.37679016G>T	ENSP00000369126:p.Tyr126*						p.Y126*	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	786	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	126			Protein kinase.		Q5T2N2	Nonsense_Mutation	SNP	ENST00000379800.3	37	c.378C>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689664	0.88735	.	.	ENSG00000180138	ENST00000379800	.	.	.	1.01	-0.265	0.12946	.	0.213073	0.42053	D	0.000778	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1087	0.10049	0.7314:0.0:0.2686:0.0	.	.	.	.	X	126	.	ENSP00000369126:Y126X	Y	-	3	2	CSNK1A1L	36577016	1.000000	0.71417	0.492000	0.27490	0.491000	0.33493	2.634000	0.46528	-0.105000	0.12132	-0.367000	0.07326	TAC		0.403	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		8	64	1	0	3.09899e-07	0.004482	4.18449e-07	8	64				
TRPC4	7223	broad.mit.edu	37	13	38225495	38225495	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:38225495G>T	ENST00000379705.3	-	8	2843	c.1986C>A	c.(1984-1986)agC>agA	p.S662R	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.S489R|TRPC4_ENST00000355779.2_Missense_Mutation_p.S662R|TRPC4_ENST00000447043.1_Missense_Mutation_p.S662R|TRPC4_ENST00000338947.5_Missense_Mutation_p.S489R|TRPC4_ENST00000379681.3_Missense_Mutation_p.S662R|TRPC4_ENST00000358477.2_Missense_Mutation_p.S662R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	662	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGACTTGGGGCTCGGGATGA	0.423																																							uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1984-1986)AGC>AGA		transient receptor potential cation channel,							136.0	133.0	134.0					13																	38225495		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38225495G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1986C>A	13.37:g.38225495G>T	ENSP00000369027:p.Ser662Arg					TRPC4_uc010abv.2_Missense_Mutation_p.S242R|TRPC4_uc001uwt.2_Missense_Mutation_p.S662R|TRPC4_uc010tey.1_Missense_Mutation_p.S662R|TRPC4_uc010abw.2_Missense_Mutation_p.S489R|TRPC4_uc010abx.2_Missense_Mutation_p.S662R|TRPC4_uc010aby.2_Intron	p.S662R	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	8	2221	-			662			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1986C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577117	0.65878	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.8	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.91192	0.7225	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.994;0.991;0.996;0.994;0.99	D	0.90921	0.4783	10	0.87932	D	0	-24.9335	10.6796	0.45807	0.2054:0.0:0.7946:0.0	.	662;662;489;662;662	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	R	662;662;489;489;662;662;662	ENSP00000369027:S662R;ENSP00000369003:S662R;ENSP00000342580:S489R;ENSP00000369001:S489R;ENSP00000348025:S662R;ENSP00000351264:S662R;ENSP00000414316:S662R	ENSP00000342580:S489R	S	-	3	2	TRPC4	37123495	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.677000	0.46892	0.797000	0.33971	0.561000	0.74099	AGC		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		12	53	1	0	6.40141e-05	0.010729	7.65288e-05	12	53				
TRPC4	7223	broad.mit.edu	37	13	38237773	38237773	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:38237773G>T	ENST00000379705.3	-	6	2325	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.L490M|TRPC4_ENST00000379679.1_Missense_Mutation_p.L317M|TRPC4_ENST00000355779.2_Missense_Mutation_p.L490M|TRPC4_ENST00000447043.1_Missense_Mutation_p.L490M|TRPC4_ENST00000338947.5_Missense_Mutation_p.L317M|TRPC4_ENST00000379681.3_Missense_Mutation_p.L490M|TRPC4_ENST00000358477.2_Missense_Mutation_p.L490M|TRPC4_ENST00000494529.1_5'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	490					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCAGACGCAGAGAACTGAAG	0.438																																							uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1468-1470)CTG>ATG		transient receptor potential cation channel,							79.0	78.0	78.0					13																	38237773		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237773G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1468C>A	13.37:g.38237773G>T	ENSP00000369027:p.Leu490Met					TRPC4_uc010abv.2_Missense_Mutation_p.L70M|TRPC4_uc001uwt.2_Missense_Mutation_p.L490M|TRPC4_uc010tey.1_Missense_Mutation_p.L490M|TRPC4_uc010abw.2_Missense_Mutation_p.L317M|TRPC4_uc010abx.2_Missense_Mutation_p.L490M|TRPC4_uc010aby.2_Missense_Mutation_p.L490M	p.L490M	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	1703	-			490			Helical; (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1468C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333931	0.60853	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.99032	-5.35;-5.35;-5.35;-5.35;-5.35;-5.35;-5.35;-5.35	6.08	3.34	0.38264	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	M	0.81179	2.53	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.998;0.995;0.975	D;D;D;D;D;D	0.85130	0.959;0.988;0.997;0.988;0.962;0.982	D	0.99180	1.0867	10	0.72032	D	0.01	-9.8108	9.4151	0.38517	0.3524:0.0:0.6476:0.0	.	490;490;490;317;490;490	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	M	490;490;317;317;490;490;490;490	ENSP00000369027:L490M;ENSP00000369003:L490M;ENSP00000342580:L317M;ENSP00000369001:L317M;ENSP00000348025:L490M;ENSP00000351264:L490M;ENSP00000368995:L490M;ENSP00000414316:L490M	ENSP00000342580:L317M	L	-	1	2	TRPC4	37135773	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.215000	0.42862	0.412000	0.25729	-0.150000	0.13652	CTG		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		4	31	1	0	0.00909568	0.009096	0.00964006	4	31				
ENOX1	55068	broad.mit.edu	37	13	43934144	43934144	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:43934144C>T	ENST00000261488.6	-	7	1009	c.432G>A	c.(430-432)gtG>gtA	p.V144V	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000412891.1_Silent_p.V144V|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	144	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTCCGACAAACACGGTCTTAC	0.378																																							uc001uza.3		NA																	0				pancreas(1)|skin(1)	2						c.(430-432)GTG>GTA		ecto-NOX disulfide-thiol exchanger 1							78.0	74.0	75.0					13																	43934144		2203	4300	6503	SO:0001819	synonymous_variant	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934144C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.432G>A	13.37:g.43934144C>T						ENOX1_uc001uzb.3_Silent_p.V144V|ENOX1_uc001uzc.3_Silent_p.V144V|ENOX1_uc010tfm.1_5'UTR	p.V144V	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	732	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	144			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	ENST00000261488.6	37	c.432G>A	CCDS9389.1																																																																																				0.378	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		8	19	0	0	0	0.00308	0	8	19				
ENOX1	55068	broad.mit.edu	37	13	43935502	43935502	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:43935502G>T	ENST00000261488.6	-	6	872	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000412891.1_Missense_Mutation_p.L99M|ENOX1_ENST00000482207.1_5'Flank	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	99	Pro-rich.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGAGGTACCAGTCCAAGGCCT	0.453																																							uc001uza.3		NA																	0				pancreas(1)|skin(1)	2						c.(295-297)CTG>ATG		ecto-NOX disulfide-thiol exchanger 1							93.0	99.0	97.0					13																	43935502		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43935502G>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.295C>A	13.37:g.43935502G>T	ENSP00000261488:p.Leu99Met					ENOX1_uc001uzb.3_Missense_Mutation_p.L99M|ENOX1_uc001uzc.3_Missense_Mutation_p.L99M|ENOX1_uc010tfm.1_5'Flank	p.L99M	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	595	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	99			Pro-rich.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.295C>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	8.076	0.771283	0.16051	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.45276	0.9;0.9	5.52	3.47	0.39725	.	0.000000	0.64402	D	0.000003	T	0.25531	0.0621	L	0.27053	0.805	0.80722	D	1	B	0.33528	0.416	B	0.28638	0.092	T	0.06391	-1.0829	10	0.34782	T	0.22	-15.308	8.9285	0.35655	0.2685:0.0:0.7315:0.0	.	99	Q8TC92	ENOX1_HUMAN	M	99	ENSP00000261488:L99M;ENSP00000415054:L99M	ENSP00000261488:L99M	L	-	1	2	ENOX1	42833502	0.525000	0.26290	0.998000	0.56505	0.785000	0.44390	0.841000	0.27613	1.345000	0.45676	0.655000	0.94253	CTG		0.453	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		14	22	1	0	0.000151284	0.001855	0.000178105	14	22				
SPERT	220082	broad.mit.edu	37	13	46287685	46287685	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:46287685G>A	ENST00000310521.1	+	3	605	c.525G>A	c.(523-525)ctG>ctA	p.L175L	SPERT_ENST00000378966.3_Silent_p.L139L	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	175						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACAAGTCTCTGCGGGAGGAGA	0.602																																							uc001van.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(523-525)CTG>CTA		spermatid associated							77.0	75.0	75.0					13																	46287685		2203	4300	6503	SO:0001819	synonymous_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287685G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.525G>A	13.37:g.46287685G>A						SPERT_uc001vao.2_Silent_p.L139L	p.L175L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	605	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	175			Potential.		A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	c.525G>A	CCDS9399.1																																																																																				0.602	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		8	56	0	0	0	0.004482	0	8	56				
CYSLTR2	57105	broad.mit.edu	37	13	49281037	49281037	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:49281037C>A	ENST00000282018.3	+	1	87	c.84C>A	c.(82-84)agC>agA	p.S28R		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	28					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATAACAACAGCAGGAACTGCA	0.378																																							uc010acx.1		NA																	0				lung(2)	2						c.(82-84)AGC>AGA		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						86.0	89.0	88.0					13																	49281037		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281037C>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.84C>A	13.37:g.49281037C>A	ENSP00000282018:p.Ser28Arg					CYSLTR2_uc010acy.1_Missense_Mutation_p.S28R|CYSLTR2_uc010acz.1_Missense_Mutation_p.S28R|CYSLTR2_uc010ada.1_Missense_Mutation_p.S28R|CYSLTR2_uc010adb.1_Missense_Mutation_p.S28R|CYSLTR2_uc010adc.1_Missense_Mutation_p.S28R|CYSLTR2_uc010add.1_Missense_Mutation_p.S28R|CYSLTR2_uc010acw.1_Missense_Mutation_p.S28R|CYSLTR2_uc001vck.2_Missense_Mutation_p.S28R	p.S28R	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	767	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	28			Extracellular (Potential).		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.84C>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257058	0.22965	.	.	ENSG00000152207	ENST00000282018	T	0.37584	1.19	5.82	0.699	0.18093	.	1.748350	0.02999	N	0.147836	T	0.18841	0.0452	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13335	-1.0513	10	0.29301	T	0.29	.	3.1258	0.06407	0.0959:0.4379:0.2051:0.2611	.	28	Q9NS75	CLTR2_HUMAN	R	28	ENSP00000282018:S28R	ENSP00000282018:S28R	S	+	3	2	CYSLTR2	48179038	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.295000	0.08298	0.102000	0.17638	0.591000	0.81541	AGC		0.378	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			8	43	1	0	0.00448238	0.004482	0.00487215	8	43				
ATP7B	540	broad.mit.edu	37	13	52548750	52548750	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:52548750A>G	ENST00000242839.4	-	2	762	c.606T>C	c.(604-606)aaT>aaC	p.N202N	ATP7B_ENST00000448424.2_Silent_p.N202N|ATP7B_ENST00000400366.3_Silent_p.N202N|ATP7B_ENST00000542656.1_Silent_p.N170N|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Silent_p.N202N|ATP7B_ENST00000418097.2_Silent_p.N202N|ATP7B_ENST00000344297.5_Silent_p.N202N	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	202	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATCCCATGTCATTTACATGGT	0.473									Wilson disease																														uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(604-606)AAT>AAC		ATPase, Cu++ transporting, beta polypeptide							89.0	90.0	90.0					13																	52548750		2005	4180	6185	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548750A>G	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.606T>C	13.37:g.52548750A>G						ATP7B_uc010adv.2_Silent_p.N202N|ATP7B_uc001vfx.2_Silent_p.N202N|ATP7B_uc001vfy.2_Silent_p.N202N|ATP7B_uc010tgt.1_Silent_p.N202N|ATP7B_uc010tgu.1_Silent_p.N202N|ATP7B_uc010tgv.1_Silent_p.N202N|ATP7B_uc010tgw.1_Silent_p.N170N	p.N202N	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	763	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	202			HMA 2.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.606T>C	CCDS41892.1																																																																																				0.473	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		21	83	0	0	0	0.012319	0	21	83				
NEK3	4752	broad.mit.edu	37	13	52710340	52710340	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:52710340C>T	ENST00000400357.2	-	11	2328	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	NEK3_ENST00000452082.2_Silent_p.Q366Q|NEK3_ENST00000339406.3_Silent_p.Q362Q|NEK3_ENST00000378101.2_Silent_p.Q362Q			P51956	NEK3_HUMAN	NIMA-related kinase 3	362					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TTTTCTCCCACTGTCGTCTAT	0.403																																							uc001vgi.2		NA																	0				ovary(1)|stomach(1)	2						c.(1084-1086)CAG>CAA		NIMA-related kinase 3 isoform a							149.0	141.0	144.0					13																	52710340		1879	4099	5978	SO:0001819	synonymous_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52710340C>T	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1035G>A	13.37:g.52710340C>T						NEK3_uc001vgg.2_Silent_p.Q339Q|NEK3_uc001vgh.2_Silent_p.Q366Q|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Silent_p.Q345Q	p.Q362Q	NM_152720	NP_689933	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	15	1321	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	362					A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Silent	SNP	ENST00000400357.2	37	c.1086G>A	CCDS53871.1																																																																																				0.403	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			14	44	0	0	0	0.003163	0	14	44				
PCDH8	5100	broad.mit.edu	37	13	53418746	53418746	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:53418746G>T	ENST00000377942.3	-	3	3365	c.3162C>A	c.(3160-3162)tcC>tcA	p.S1054S	PCDH8_ENST00000338862.4_Silent_p.S957S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1054					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCCAGGAGGGGACTGGTAGA	0.562																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(3160-3162)TCC>TCA		protocadherin 8 isoform 1 precursor							81.0	85.0	84.0					13																	53418746		2203	4300	6503	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53418746G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.3162C>A	13.37:g.53418746G>T						PCDH8_uc001vhj.2_Silent_p.S957S	p.S1054S	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3365	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	1054			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.3162C>A	CCDS9438.1																																																																																				0.562	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		14	63	1	0	2.61681e-11	0.00245	4.11906e-11	14	63				
PCDH17	27253	broad.mit.edu	37	13	58208940	58208940	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:58208940G>A	ENST00000377918.3	+	1	2286	c.2260G>A	c.(2260-2262)Ggg>Agg	p.G754R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAGCTGGGTGGGGGCAAGGG	0.557																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2260-2262)GGG>AGG		protocadherin 17 precursor							80.0	74.0	76.0					13																	58208940		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208940G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2260G>A	13.37:g.58208940G>A	ENSP00000367151:p.Gly754Arg					PCDH17_uc010aec.1_Missense_Mutation_p.G754R	p.G754R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3152	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	754			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2260G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981871	0.34942	.	.	ENSG00000118946	ENST00000377918	T	0.50277	0.75	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.45856	0.1363	L	0.36672	1.1	0.43130	D	0.99486	P;P	0.45428	0.858;0.777	P;B	0.45712	0.491;0.297	T	0.29822	-0.9999	9	.	.	.	.	17.2954	0.87169	0.0:0.0:1.0:0.0	.	754;754	O14917-2;O14917	.;PCD17_HUMAN	R	754	ENSP00000367151:G754R	.	G	+	1	0	PCDH17	57106941	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.553000	0.73918	2.607000	0.88179	0.591000	0.81541	GGG		0.557	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	31	0	0	0	0.00308	0	8	31				
PCDH17	27253	broad.mit.edu	37	13	58208942	58208942	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:58208942G>T	ENST00000377918.3	+	1	2288	c.2262G>T	c.(2260-2262)ggG>ggT	p.G754G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCTGGGTGGGGGCAAGGGCA	0.557																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2260-2262)GGG>GGT		protocadherin 17 precursor							83.0	76.0	78.0					13																	58208942		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208942G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2262G>T	13.37:g.58208942G>T						PCDH17_uc010aec.1_Silent_p.G754G	p.G754G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3154	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	754			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2262G>T	CCDS31986.1																																																																																				0.557	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	30	1	0	5.18039e-06	0.00308	6.58689e-06	8	30				
DIAPH3	81624	broad.mit.edu	37	13	60348955	60348955	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:60348955C>T	ENST00000400324.4	-	26	3386	c.3166G>A	c.(3166-3168)Ggt>Agt	p.G1056S	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.G1010S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.G1045S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.G986S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.G1056S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.G1056S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1056					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCTCATCACCCTCTGTGAAA	0.498																																							uc001vht.2		NA																	0				ovary(2)	2						c.(3166-3168)GGT>AGT		diaphanous homolog 3 isoform a							72.0	73.0	72.0					13																	60348955		1957	4165	6122	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60348955C>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3166G>A	13.37:g.60348955C>T	ENSP00000383178:p.Gly1056Ser					DIAPH3_uc001vhu.2_Missense_Mutation_p.G793S	p.G1056S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	26	3385	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	1056			Potential.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.3166G>A	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890695	0.52014	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.54;-1.53;-1.53	6.02	4.3	0.51218	Actin-binding FH2/DRF autoregulatory (1);	0.167332	0.53938	D	0.000048	D	0.86146	0.5863	M	0.77820	2.39	0.34512	D	0.707175	P;B	0.48230	0.907;0.028	P;B	0.51550	0.673;0.019	D	0.87958	0.2728	10	0.29301	T	0.29	.	11.6931	0.51527	0.1244:0.8119:0.0:0.0637	.	793;1056	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	S	1056;1056;1045;1010;986;1045;986;1010;1056;793	ENSP00000383178:G1056S;ENSP00000383184:G1056S;ENSP00000367141:G1045S;ENSP00000383173:G986S;ENSP00000383174:G1010S;ENSP00000267215:G1056S	ENSP00000267214:G793S	G	-	1	0	DIAPH3	59246956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.832000	0.48152	0.889000	0.36185	-0.119000	0.15052	GGT		0.498	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		17	26	0	0	0	0.007413	0	17	26				
DIAPH3	81624	broad.mit.edu	37	13	60566710	60566710	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:60566710C>A	ENST00000400324.4	-	10	1242	c.1022G>T	c.(1021-1023)tGt>tTt	p.C341F	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.C295F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.C330F|DIAPH3_ENST00000400319.1_Missense_Mutation_p.C271F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.C341F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.C341F	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	341	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GAGCTGCATACAAGCTACCTA	0.378																																							uc001vht.2		NA																	0				ovary(2)	2						c.(1021-1023)TGT>TTT		diaphanous homolog 3 isoform a							62.0	57.0	59.0					13																	60566710		1906	4136	6042	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60566710C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1022G>T	13.37:g.60566710C>A	ENSP00000383178:p.Cys341Phe					DIAPH3_uc001vhu.2_Missense_Mutation_p.C78F|DIAPH3_uc001vhv.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.C330F|DIAPH3_uc010aed.1_Missense_Mutation_p.C295F|DIAPH3_uc010aee.1_Missense_Mutation_p.C271F	p.C341F	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	10	1241	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	341			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1022G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038333	0.75617	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.67	5.67	0.87782	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93638	0.7968	M	0.92649	3.33	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.94550	0.7753	10	0.87932	D	0	.	19.7668	0.96349	0.0:1.0:0.0:0.0	.	271;295;330;78;341	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	F	341;341;330;295;271;330;271;295;341;78;341	ENSP00000383178:C341F;ENSP00000383184:C341F;ENSP00000367141:C330F;ENSP00000383173:C271F;ENSP00000383174:C295F;ENSP00000267215:C341F	ENSP00000267214:C78F	C	-	2	0	DIAPH3	59464711	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.398000	0.79919	2.671000	0.90904	0.460000	0.39030	TGT		0.378	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		3	12	1	0	0.004672	0.004672	0.00503002	3	12				
DACH1	1602	broad.mit.edu	37	13	72049304	72049304	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:72049304G>A	ENST00000359684.2	-	11	2213	c.2214C>T	c.(2212-2214)ggC>ggT	p.G738G	DACH1_ENST00000354591.4_Silent_p.G484G|DACH1_ENST00000305425.4_Silent_p.G686G|DACH1_ENST00000313174.7_Silent_p.G538G			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	738					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTGTTCTGCCGCCACTGCGGT	0.408																																							uc010thn.1		NA																	0				breast(1)	1						c.(2050-2052)GGC>GGT		dachshund homolog 1 isoform a							82.0	83.0	83.0					13																	72049304		1863	4107	5970	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049304G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2214C>T	13.37:g.72049304G>A						DACH1_uc010tho.1_Silent_p.G536G|DACH1_uc010thp.1_Silent_p.G482G	p.G684G	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	11	2475	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	736					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.2052C>T																																																																																					0.408	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		16	24	0	0	0	0.00499	0	16	24				
DACH1	1602	broad.mit.edu	37	13	72255997	72255997	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:72255997G>T	ENST00000359684.2	-	2	899	c.900C>A	c.(898-900)tcC>tcA	p.S300S	DACH1_ENST00000354591.4_Silent_p.S300S|DACH1_ENST00000305425.4_Silent_p.S300S|DACH1_ENST00000313174.7_Silent_p.S300S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	300	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTTCTCTGGGGAGGTGACAC	0.418																																							uc010thn.1		NA																	0				breast(1)	1						c.(892-894)TCC>TCA		dachshund homolog 1 isoform a							110.0	106.0	107.0					13																	72255997		1906	4139	6045	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72255997G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.900C>A	13.37:g.72255997G>T						DACH1_uc010tho.1_Silent_p.S298S|DACH1_uc010thp.1_Silent_p.S298S	p.S298S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1317	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	298			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.894C>A																																																																																					0.418	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		3	34	1	0	2.89027e-11	0.002299	4.53689e-11	3	34				
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	IGR	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:75814354C>G								AL162571.1 (31181 upstream) : LINC01078 (10261 downstream)																							CCACCAGTTCCCATGGAAAAC	0.488																																							uc010ths.1		NA																	0					0						c.(121-123)TGG>TGC		Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).																																				SO:0001628	intergenic_variant	647288							g.chr13:75814354C>G																													13.37:g.75814354C>G							p.W41C	NR_027466						1	164	-									Missense_Mutation	SNP		37	c.123G>C																																																																																				0	0.488									4	66	0	0	0	0.000602	0	4	66				
SPRY2	10253	broad.mit.edu	37	13	80911327	80911327	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:80911327C>A	ENST00000377102.1	-	2	1491	c.514G>T	c.(514-516)Ggc>Tgc	p.G172C	SPRY2_ENST00000377104.3_Missense_Mutation_p.G172C|SPRY2_ENST00000540649.1_Missense_Mutation_p.G172C			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	172					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GCGTGCAGGCCCAAATCTTCC	0.552																																							uc001vli.2		NA																	0				ovary(1)|lung(1)	2						c.(514-516)GGC>TGC		sprouty 2							87.0	77.0	80.0					13																	80911327		2203	4300	6503	SO:0001583	missense	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911327C>A	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.514G>T	13.37:g.80911327C>A	ENSP00000366306:p.Gly172Cys					SPRY2_uc001vlj.2_Missense_Mutation_p.G172C	p.G172C	NM_005842	NP_005833	O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1492	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	172					B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.514G>T	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559818	0.45590	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.57436	0.4;0.4;0.4	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	M	0.66939	2.045	0.58432	D	0.999998	D	0.55172	0.97	B	0.44044	0.439	T	0.63668	-0.6585	10	0.72032	D	0.01	.	14.3576	0.66748	0.0:0.8513:0.1487:0.0	.	172	O43597	SPY2_HUMAN	C	172	ENSP00000366308:G172C;ENSP00000366306:G172C;ENSP00000439027:G172C	ENSP00000366306:G172C	G	-	1	0	SPRY2	79809328	1.000000	0.71417	0.964000	0.40570	0.963000	0.63663	4.387000	0.59626	2.226000	0.72624	0.555000	0.69702	GGC		0.552	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			7	30	1	0	1.06961e-07	0.00308	1.48315e-07	7	30				
SLITRK1	114798	broad.mit.edu	37	13	84455035	84455035	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:84455035C>A	ENST00000377084.2	-	1	1493	c.608G>T	c.(607-609)gGt>gTt	p.G203V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	203					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTCCGCAATACCAGGGATTTG	0.542																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(607-609)GGT>GTT		slit and trk like 1 protein precursor							75.0	73.0	74.0					13																	84455035		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455035C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.608G>T	13.37:g.84455035C>A	ENSP00000366288:p.Gly203Val						p.G203V	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1494	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	203			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.608G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098324	0.56183	.	.	ENSG00000178235	ENST00000377084	T	0.53206	0.63	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.39514	1.22	0.80722	D	1	P	0.50156	0.932	P	0.61201	0.885	T	0.58081	-0.7699	10	0.49607	T	0.09	-8.4229	16.4091	0.83701	0.0:1.0:0.0:0.0	.	203	Q96PX8	SLIK1_HUMAN	V	203	ENSP00000366288:G203V	ENSP00000366288:G203V	G	-	2	0	SLITRK1	83353036	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.930000	0.70104	2.461000	0.83175	0.561000	0.74099	GGT		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		15	46	1	0	1.52009e-12	0.003163	2.49195e-12	15	46				
SLITRK1	114798	broad.mit.edu	37	13	84455189	84455189	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:84455189C>A	ENST00000377084.2	-	1	1339	c.454G>T	c.(454-456)Gac>Tac	p.D152Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	152					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTTCAAGTCCTGGAAGGCC	0.488																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(454-456)GAC>TAC		slit and trk like 1 protein precursor							73.0	76.0	75.0					13																	84455189		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455189C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.454G>T	13.37:g.84455189C>A	ENSP00000366288:p.Asp152Tyr						p.D152Y	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1340	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	152			LRR 4.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.454G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120866	0.56613	.	.	ENSG00000178235	ENST00000377084	T	0.57907	0.37	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	L	0.49778	1.585	0.80722	D	1	P	0.43750	0.816	P	0.53490	0.727	T	0.65158	-0.6236	10	0.62326	D	0.03	-16.8466	15.8282	0.78730	0.0:1.0:0.0:0.0	.	152	Q96PX8	SLIK1_HUMAN	Y	152	ENSP00000366288:D152Y	ENSP00000366288:D152Y	D	-	1	0	SLITRK1	83353190	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.823000	0.62694	2.310000	0.77875	0.561000	0.74099	GAC		0.488	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		14	49	1	0	4.3838e-07	0.001855	5.8727e-07	14	49				
SLITRK6	84189	broad.mit.edu	37	13	86368804	86368804	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:86368804G>C	ENST00000400286.2	-	2	2438	c.1840C>G	c.(1840-1842)Ctt>Gtt	p.L614V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	614					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATAATCAGAAGTCCCAATATT	0.413																																							uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1840-1842)CTT>GTT		slit and trk like 6 precursor							133.0	126.0	128.0					13																	86368804		1981	4167	6148	SO:0001583	missense	84189					integral to membrane		g.chr13:86368804G>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1840C>G	13.37:g.86368804G>C	ENSP00000383143:p.Leu614Val					SLITRK6_uc010afe.1_Intron	p.L614V	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2299	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		614			Helical; (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1840C>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437731	0.43224	.	.	ENSG00000184564	ENST00000400286	T	0.64085	-0.08	5.65	3.9	0.45041	.	0.000000	0.64402	U	0.000012	T	0.74921	0.3780	M	0.74647	2.275	0.47037	D	0.99929	D	0.76494	0.999	D	0.65874	0.939	T	0.77600	-0.2527	10	0.87932	D	0	-6.6396	10.5277	0.44958	0.1579:0.0:0.8421:0.0	.	614	Q9H5Y7	SLIK6_HUMAN	V	614	ENSP00000383143:L614V	ENSP00000383143:L614V	L	-	1	0	SLITRK6	85266805	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.858000	0.48356	1.372000	0.46190	0.655000	0.94253	CTT		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		15	48	0	0	0	0.00245	0	15	48				
SLITRK6	84189	broad.mit.edu	37	13	86370512	86370512	+	Missense_Mutation	SNP	C	C	A	rs548291854		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:86370512C>A	ENST00000400286.2	-	2	730	c.132G>T	c.(130-132)atG>atT	p.M44I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	44	LRRNT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AATTTATTAGCATTGTGCCAT	0.408																																							uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(130-132)ATG>ATT		slit and trk like 6 precursor							104.0	97.0	99.0					13																	86370512		1892	4111	6003	SO:0001583	missense	84189					integral to membrane		g.chr13:86370512C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.132G>T	13.37:g.86370512C>A	ENSP00000383143:p.Met44Ile					SLITRK6_uc010afe.1_5'Flank	p.M44I	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	591	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		44			LRRNT 1.|Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.132G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294929	0.23564	.	.	ENSG00000184564	ENST00000400286	T	0.55234	0.53	6.17	4.43	0.53597	.	0.181276	0.53938	N	0.000051	T	0.31857	0.0810	N	0.08118	0	0.36534	D	0.870877	B	0.02656	0.0	B	0.01281	0.0	T	0.20739	-1.0266	10	0.52906	T	0.07	-8.6919	10.4607	0.44578	0.271:0.5984:0.1306:0.0	.	44	Q9H5Y7	SLIK6_HUMAN	I	44	ENSP00000383143:M44I	ENSP00000383143:M44I	M	-	3	0	SLITRK6	85268513	0.997000	0.39634	0.855000	0.33649	0.971000	0.66376	1.679000	0.37597	0.907000	0.36646	0.655000	0.94253	ATG		0.408	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		9	29	1	0	1.76689e-08	0.006214	2.52626e-08	9	29				
ABCC4	10257	broad.mit.edu	37	13	95714958	95714958	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:95714958C>A	ENST00000376887.4	-	26	3480	c.3366G>T	c.(3364-3366)caG>caT	p.Q1122H	ABCC4_ENST00000412704.1_Splice_Site_p.Q1075H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1122	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACTTGCATACCTGAGGTATGA	0.348																																							uc001vmd.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(3364-3366)CAG>CAT		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						154.0	144.0	147.0					13																	95714958		2203	4300	6503	SO:0001630	splice_region_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95714958C>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3366+1G>T	13.37:g.95714958C>A						ABCC4_uc010afj.2_Missense_Mutation_p.Q6H|ABCC4_uc010afk.2_Missense_Mutation_p.Q1075H	p.Q1122H	NM_005845	NP_005836	O15439	MRP4_HUMAN			26	3485	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1122			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3366G>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211400	0.79240	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.95918	-3.85;-3.85	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98311	0.9440	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98824	1.0748	9	.	.	.	.	15.8763	0.79166	0.0:0.9342:0.0:0.0658	.	1075;712;1122	O15439-2;O75555;O15439	.;.;MRP4_HUMAN	H	1075;1122	ENSP00000388657:Q1075H;ENSP00000366084:Q1122H	.	Q	-	3	2	ABCC4	94512959	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.786000	0.69006	2.937000	0.99478	0.650000	0.86243	CAG		0.348	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	Missense_Mutation	24	79	1	0	3.01185e-09	0.003954	4.44843e-09	24	79				
FARP1	10160	broad.mit.edu	37	13	99042248	99042248	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:99042248G>T	ENST00000319562.6	+	10	1158	c.893G>T	c.(892-894)aGt>aTt	p.S298I	FARP1_ENST00000595437.1_Missense_Mutation_p.S298I|FARP1_ENST00000376586.2_Missense_Mutation_p.S298I	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	298	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGATGGCCAGTCGGGATTTC	0.438																																							uc001vnj.2		NA																	0				breast(2)	2						c.(892-894)AGT>ATT		FERM, RhoGEF, and pleckstrin domain protein 1							125.0	127.0	127.0					13																	99042248		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99042248G>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.893G>T	13.37:g.99042248G>T	ENSP00000322926:p.Ser298Ile					FARP1_uc001vnh.2_Missense_Mutation_p.S298I	p.S298I	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		10	1229	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		298			FERM.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.893G>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898274	0.91962	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	D;D	0.84516	-1.86;-1.86	5.34	5.34	0.76211	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.038779	0.85682	D	0.000000	D	0.93471	0.7917	M	0.91249	3.19	0.80722	D	1	P;P	0.49783	0.928;0.909	P;P	0.59012	0.765;0.85	D	0.94485	0.7696	10	0.87932	D	0	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	298;298	Q9Y4F1;C9JME2	FARP1_HUMAN;.	I	298;3;298	ENSP00000365771:S298I;ENSP00000322926:S298I	ENSP00000322926:S298I	S	+	2	0	FARP1	97840249	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	6.617000	0.74210	2.664000	0.90586	0.655000	0.94253	AGT		0.438	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		15	55	1	0	8.60227e-14	0.004007	1.44648e-13	15	55				
NALCN	259232	broad.mit.edu	37	13	101714375	101714375	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:101714375A>C	ENST00000251127.6	-	41	4781	c.4700T>G	c.(4699-4701)gTg>gGg	p.V1567G	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1567					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTTGGCCACCTCCTCCTC	0.607																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4699-4701)GTG>GGG		voltage gated channel like 1							131.0	92.0	105.0					13																	101714375		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101714375A>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4700T>G	13.37:g.101714375A>C	ENSP00000251127:p.Val1567Gly						p.V1567G	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			41	4889	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1567			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4700T>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322118	0.81580	.	.	ENSG00000102452	ENST00000251127	D	0.98889	-5.21	5.94	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99372	1.0920	10	0.87932	D	0	.	13.3642	0.60674	0.8684:0.1316:0.0:0.0	.	1567	Q8IZF0	NALCN_HUMAN	G	1567	ENSP00000251127:V1567G	ENSP00000251127:V1567G	V	-	2	0	NALCN	100512376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.933000	0.75874	1.053000	0.40415	0.528000	0.53228	GTG		0.607	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	30	0	0	0	0.001168	0	4	30				
TMCO3	55002	broad.mit.edu	37	13	114175005	114175005	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:114175005G>A	ENST00000434316.2	+	8	1659	c.1300G>A	c.(1300-1302)Gtc>Atc	p.V434I	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	434						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CTTCATGGCCGTCATGCCGAC	0.512																																							uc001vtu.3		NA																	0					0						c.(1300-1302)GTC>ATC		transmembrane and coiled-coil domains 3							90.0	82.0	85.0					13																	114175005		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114175005G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1300G>A	13.37:g.114175005G>A	ENSP00000389399:p.Val434Ile					TMCO3_uc001vtt.3_Missense_Mutation_p.V434I	p.V434I	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		8	1661	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	434			Helical; (Potential).		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1300G>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	3.923	-0.017761	0.07681	.	.	ENSG00000150403	ENST00000434316	T	0.16743	2.32	4.93	-0.676	0.11361	Cation/H+ exchanger (1);	0.548821	0.18602	N	0.136413	T	0.07593	0.0191	N	0.20685	0.6	0.19945	N	0.999949	B;B	0.14805	0.006;0.011	B;B	0.11329	0.004;0.006	T	0.41484	-0.9506	10	0.07813	T	0.8	-19.7283	6.8379	0.23947	0.3041:0.0:0.5796:0.1163	.	434;434	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	I	434	ENSP00000389399:V434I	ENSP00000389399:V434I	V	+	1	0	TMCO3	113223006	1.000000	0.71417	0.001000	0.08648	0.289000	0.27227	3.778000	0.55371	-0.088000	0.12506	-0.394000	0.06481	GTC		0.512	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		3	33	0	0	0	0.004672	0	3	33				
OR11H12	440153	broad.mit.edu	37	14	19378008	19378008	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:19378008C>G	ENST00000550708.1	+	1	487	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGATCAGTACCTTGCTATCTG	0.438																																							uc010tkp.1		NA																	0				ovary(2)	2						c.(415-417)CTT>GTT		olfactory receptor, family 11, subfamily H,							33.0	31.0	31.0					14																	19378008		1487	3139	4626	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378008C>G		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.415C>G	14.37:g.19378008C>G	ENSP00000449002:p.Leu139Val						p.L139V	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	415	+	all_cancers(95;0.00108)		139			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.415C>G	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	9.279	1.047734	0.19827	.	.	ENSG00000257115	ENST00000550708	T	0.02067	4.47	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.207229	0.23474	N	0.047794	T	0.01523	0.0049	N	0.11789	0.175	0.22581	N	0.998964	P	0.46784	0.884	P	0.47786	0.557	T	0.43972	-0.9358	9	0.09843	T	0.71	.	4.4583	0.11654	1.0E-4:0.5742:0.4258:0.0	.	139	B2RN74	O11HC_HUMAN	V	139	ENSP00000449002:L139V	ENSP00000449002:L139V	L	+	1	0	CR383656.1	18448008	0.000000	0.05858	0.137000	0.22149	0.058000	0.15608	-2.532000	0.00943	0.619000	0.30197	0.064000	0.15345	CTT		0.438	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		10	80	0	0	0	0.006122	0	10	80				
OR4M1	441670	broad.mit.edu	37	14	20249031	20249031	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:20249031G>T	ENST00000315957.4	+	1	631	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCACACAGGTTGTCCGGAT	0.468																																							uc010tku.1		NA																	0					0						c.(550-552)GTT>TTT		olfactory receptor, family 4, subfamily M,							269.0	248.0	255.0					14																	20249031		2202	4281	6483	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249031G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.550G>T	14.37:g.20249031G>T	ENSP00000319654:p.Val184Phe						p.V184F	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	550	+	all_cancers(95;0.00108)		184			Extracellular (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.550G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.95	2.688611	0.48097	.	.	ENSG00000176299	ENST00000315957	T	0.00237	8.47	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000411	T	0.00440	0.0014	M	0.74546	2.27	0.32345	N	0.559284	D	0.63880	0.993	D	0.67382	0.951	T	0.62661	-0.6807	10	0.33940	T	0.23	-18.103	10.0384	0.42142	0.0:0.0:0.7989:0.2011	.	184	Q8NGD0	OR4M1_HUMAN	F	184	ENSP00000319654:V184F	ENSP00000319654:V184F	V	+	1	0	OR4M1	19318871	0.019000	0.18553	1.000000	0.80357	0.994000	0.84299	0.070000	0.14573	2.464000	0.83262	0.506000	0.49869	GTT		0.468	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			14	164	1	0	2.4624e-09	0.008871	3.65596e-09	14	164				
OR4K5	79317	broad.mit.edu	37	14	20389373	20389373	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:20389373G>T	ENST00000315915.4	+	1	633	c.608G>T	c.(607-609)aGt>aTt	p.S203I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTCAATAGTGGAATTCTT	0.418																																							uc010tkw.1		NA																	0				ovary(1)|skin(1)	2						c.(607-609)AGT>ATT		olfactory receptor, family 4, subfamily K,							269.0	280.0	276.0					14																	20389373		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389373G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.608G>T	14.37:g.20389373G>T	ENSP00000319511:p.Ser203Ile						p.S203I	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	608	+	all_cancers(95;0.00108)		203			Helical; Name=5; (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.608G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.731560	0.48939	.	.	ENSG00000176281	ENST00000315915	T	0.38240	1.15	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.61540	0.2355	M	0.81341	2.54	0.24479	N	0.994355	D	0.89917	1.0	D	0.83275	0.996	T	0.57323	-0.7831	10	0.87932	D	0	.	14.4529	0.67397	0.0:0.0:1.0:0.0	.	203	Q8NGD3	OR4K5_HUMAN	I	203	ENSP00000319511:S203I	ENSP00000319511:S203I	S	+	2	0	OR4K5	19459213	0.727000	0.28069	0.667000	0.29798	0.731000	0.41821	3.746000	0.55127	2.259000	0.74868	0.561000	0.74099	AGT		0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		57	87	1	0	2.44813e-32	0.00361	4.71328e-32	57	87				
OR4K1	79544	broad.mit.edu	37	14	20403925	20403925	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:20403925G>C	ENST00000285600.4	+	1	159	c.100G>C	c.(100-102)Gtc>Ctc	p.V34L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTCTCTATAGTCTATGTGAC	0.378																																							uc001vwj.1		NA																	0				skin(2)|ovary(1)	3						c.(100-102)GTC>CTC		olfactory receptor, family 4, subfamily K,							349.0	375.0	366.0					14																	20403925		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403925G>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.100G>C	14.37:g.20403925G>C	ENSP00000285600:p.Val34Leu						p.V34L	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	100	+	all_cancers(95;0.00108)		34			Helical; Name=1; (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.100G>C	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.149631	0.01714	.	.	ENSG00000155249	ENST00000285600	T	0.00418	7.49	4.77	0.625	0.17665	.	0.302462	0.24033	N	0.042178	T	0.00109	0.0003	N	0.01438	-0.865	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	10	0.11485	T	0.65	.	4.2281	0.10590	0.3994:0.1673:0.4333:0.0	.	34	Q8NGD4	OR4K1_HUMAN	L	34	ENSP00000285600:V34L	ENSP00000285600:V34L	V	+	1	0	OR4K1	19473765	0.000000	0.05858	0.004000	0.12327	0.771000	0.43674	-0.319000	0.08039	-0.055000	0.13244	0.561000	0.74099	GTC		0.378	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			42	173	0	0	0	0.009718	0	42	173				
OR11G2	390439	broad.mit.edu	37	14	20665680	20665680	+	Missense_Mutation	SNP	G	G	T	rs375394817	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:20665680G>T	ENST00000357366.3	+	1	186	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGGAGGGGCAGATCCTCCTCT	0.542																																							uc010tlb.1		NA																	0				ovary(1)|skin(1)	2						c.(184-186)CAG>CAT		olfactory receptor, family 11, subfamily G,							88.0	72.0	77.0					14																	20665680		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665680G>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.186G>T	14.37:g.20665680G>T	ENSP00000349930:p.Gln62His						p.Q62H	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	186	+	all_cancers(95;0.00108)		62			Extracellular (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.186G>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	g	13.11	2.140136	0.37825	.	.	ENSG00000196832	ENST00000357366	T	0.00601	6.29	4.53	2.66	0.31614	.	0.330540	0.21887	N	0.067644	T	0.00936	0.0031	M	0.76170	2.325	0.21105	N	0.999781	B	0.31968	0.349	B	0.32289	0.143	T	0.38672	-0.9650	10	0.87932	D	0	.	8.9471	0.35764	0.1902:0.0:0.8098:0.0	.	62	Q8NGC1	O11G2_HUMAN	H	62	ENSP00000349930:Q62H	ENSP00000349930:Q62H	Q	+	3	2	OR11G2	19735520	0.000000	0.05858	0.829000	0.32907	0.804000	0.45430	-0.226000	0.09139	0.505000	0.28104	0.555000	0.69702	CAG		0.542	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			19	18	1	0	8.10497e-08	0.010504	1.13217e-07	19	18				
OR11G2	390439	broad.mit.edu	37	14	20666300	20666300	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:20666300C>A	ENST00000357366.3	+	1	806	c.806C>A	c.(805-807)gCa>gAa	p.A269E		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCCCTTCAGCAGCTGGGAGA	0.517																																							uc010tlb.1		NA																	0				ovary(1)|skin(1)	2						c.(805-807)GCA>GAA		olfactory receptor, family 11, subfamily G,							192.0	185.0	188.0					14																	20666300		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666300C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.806C>A	14.37:g.20666300C>A	ENSP00000349930:p.Ala269Glu						p.A269E	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	806	+	all_cancers(95;0.00108)		269			Cytoplasmic (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.806C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.194818	0.38806	.	.	ENSG00000196832	ENST00000357366	T	0.00107	8.72	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.00241	0.0007	M	0.81112	2.525	0.09310	N	1	P	0.36837	0.571	B	0.38921	0.285	T	0.29336	-1.0015	10	0.66056	D	0.02	.	10.6828	0.45823	0.2984:0.7016:0.0:0.0	.	269	Q8NGC1	O11G2_HUMAN	E	269	ENSP00000349930:A269E	ENSP00000349930:A269E	A	+	2	0	OR11G2	19736140	0.001000	0.12720	0.999000	0.59377	0.935000	0.57460	0.342000	0.19926	2.569000	0.86673	0.655000	0.94253	GCA		0.517	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			18	145	1	0	9.16793e-09	0.00499	1.32869e-08	18	145				
OR6S1	341799	broad.mit.edu	37	14	21109704	21109704	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:21109704C>A	ENST00000320704.3	-	1	146	c.147G>T	c.(145-147)ggG>ggT	p.G49G		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCCTTACCACCCCCACAATCA	0.463																																							uc001vxv.1		NA																	0				ovary(1)|skin(1)	2						c.(145-147)GGG>GGT		olfactory receptor, family 6, subfamily S,							98.0	94.0	95.0					14																	21109704		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109704C>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.147G>T	14.37:g.21109704C>A							p.G49G	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	147	-	all_cancers(95;0.00304)		49			Helical; Name=1; (Potential).		Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.147G>T	CCDS32038.1																																																																																				0.463	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			31	39	1	0	5.60225e-13	0.009535	9.25542e-13	31	39				
RNASE4	6038	broad.mit.edu	37	14	21167586	21167586	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:21167586G>A	ENST00000555835.1	+	2	732	c.56G>A	c.(55-57)gGg>gAg	p.G19E	AL163636.6_ENST00000553909.1_3'UTR|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.G19E|RNASE4_ENST00000304704.4_Missense_Mutation_p.G19E|RNASE4_ENST00000397995.2_Missense_Mutation_p.G19E	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	19					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		ACCCTGCTGGGGCTGGGGCTG	0.572																																					Esophageal Squamous(59;1059 1362 26290 51151)	Esophageal Squamous(59;1059 1362 26290 51151)	uc001vxy.3		NA																	0				central_nervous_system(1)	1						c.(55-57)GGG>GAG		ribonuclease, RNase A family, 4 precursor							94.0	91.0	92.0					14																	21167586		2203	4300	6503	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167586G>A	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.56G>A	14.37:g.21167586G>A	ENSP00000452245:p.Gly19Glu					RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.G19E	p.G19E	NM_002937	NP_002928	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	619	+	all_cancers(95;0.00304)		19						Missense_Mutation	SNP	ENST00000555835.1	37	c.56G>A	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367625	0.61513	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.39	4.5	0.54988	Ribonuclease A, domain (1);	1.008220	0.07955	N	0.981510	D	0.90772	0.7103	M	0.81802	2.56	0.31764	N	0.633038	D	0.76494	0.999	D	0.68621	0.959	D	0.83866	0.0271	10	0.49607	T	0.09	-14.4536	10.3592	0.43982	0.0918:0.0:0.9082:0.0	.	19	P34096	RNAS4_HUMAN	E	19	ENSP00000452245:G19E;ENSP00000381081:G19E;ENSP00000451624:G19E;ENSP00000381087:G19E;ENSP00000307096:G19E;ENSP00000381085:G19E	ENSP00000307096:G19E	G	+	2	0	AL163636.2;RNASE4	20237426	0.973000	0.33851	1.000000	0.80357	0.812000	0.45895	1.378000	0.34328	1.413000	0.46997	0.655000	0.94253	GGG		0.572	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			24	81	0	0	0	0.005443	0	24	81				
ABHD4	63874	broad.mit.edu	37	14	23078735	23078735	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:23078735C>A	ENST00000428304.2	+	6	928	c.858C>A	c.(856-858)atC>atA	p.I286I		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	286					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TCACTATGATCTACGGGTCCG	0.517																																							uc001wgm.2		NA																	0				central_nervous_system(1)	1						c.(856-858)ATC>ATA		abhydrolase domain containing 4							99.0	91.0	94.0					14																	23078735		2203	4300	6503	SO:0001819	synonymous_variant	63874				lipid catabolic process		hydrolase activity	g.chr14:23078735C>A	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.858C>A	14.37:g.23078735C>A						ABHD4_uc010tna.1_3'UTR|ABHD4_uc010tnb.1_RNA	p.I286I	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	6	927	+	all_cancers(95;5.49e-05)		286					B4DDH7|Q9H9E0	Silent	SNP	ENST00000428304.2	37	c.858C>A	CCDS9572.1																																																																																				0.517	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			6	46	1	0	8.12818e-05	0.001984	9.60912e-05	6	46				
MYH6	4624	broad.mit.edu	37	14	23871912	23871912	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:23871912G>T	ENST00000356287.3	-	10	1025	c.996C>A	c.(994-996)gcC>gcA	p.A332A	MYH6_ENST00000405093.3_Silent_p.A332A			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	332	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACATCGGTGGCCATGAGCT	0.632																																							uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(994-996)GCC>GCA		myosin heavy chain 6							54.0	46.0	49.0					14																	23871912		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23871912G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.996C>A	14.37:g.23871912G>T						MYH6_uc010akp.1_Silent_p.A332A	p.A332A	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	11	1063	-	all_cancers(95;2.54e-05)		332			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.996C>A	CCDS9600.1																																																																																				0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			9	40	1	0	0.000274275	0.004482	0.000314197	9	40				
RABGGTA	5875	broad.mit.edu	37	14	24737089	24737089	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:24737089A>G	ENST00000399409.3	-	12	1706	c.1223T>C	c.(1222-1224)tTc>tCc	p.F408S	RABGGTA_ENST00000560777.1_Missense_Mutation_p.F17S|RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.F408S	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	408					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GAGGGTCTGGAAGTACTGCAG	0.602																																							uc001wof.2		NA																	0					0						c.(1222-1224)TTC>TCC		Rab geranylgeranyltransferase alpha							50.0	54.0	52.0					14																	24737089		2083	4211	6294	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737089A>G		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1223T>C	14.37:g.24737089A>G	ENSP00000382341:p.Phe408Ser					RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.F408S|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.F408S	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	12	1645	-			408					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1223T>C	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541749	0.85917	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.47528	0.84;0.84	5.32	5.32	0.75619	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	L	0.56769	1.78	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.66854	-0.5818	10	0.87932	D	0	-27.2694	12.8897	0.58064	1.0:0.0:0.0:0.0	.	408	Q92696	PGTA_HUMAN	S	408	ENSP00000216840:F408S;ENSP00000382341:F408S	ENSP00000216840:F408S	F	-	2	0	RABGGTA	23806929	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.801000	0.69115	2.234000	0.73211	0.460000	0.39030	TTC		0.602	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		3	25	0	0	0	0.004672	0	3	25				
GZMH	2999	broad.mit.edu	37	14	25077587	25077588	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:25077587_25077588GG>TT	ENST00000216338.4	-	2	130_131	c.86_87CC>AA	c.(85-87)cCC>cAA	p.P29Q	GZMH_ENST00000382548.4_Missense_Mutation_p.P29Q|GZMH_ENST00000557220.2_Missense_Mutation_p.P29Q|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	29	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GGCGGGAGTGGGGCTTGGCCTC	0.545																																							uc001wpr.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(85-87)CCC>CAA		granzyme H precursor																																				SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25077587_25077588GG>TT	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.86_87delinsTT	14.37:g.25077587_25077588delinsTT	ENSP00000216338:p.Pro29Gln					GZMH_uc010aly.1_Missense_Mutation_p.P29Q|GZMH_uc010alz.1_Missense_Mutation_p.P29Q	p.P29Q	NM_033423	NP_219491	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	2	131_132	-			29			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	DNP	ENST00000216338.4	37	c.86_87CC>AA	CCDS9632.1																																																																																				0.545	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		11	101	0	0	0	0.004672	0	11	101				
NOVA1	4857	broad.mit.edu	37	14	26918139	26918139	+	Missense_Mutation	SNP	C	C	A	rs201431317		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:26918139C>A	ENST00000539517.2	-	5	867	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	NOVA1_ENST00000465357.2_Missense_Mutation_p.G160C|NOVA1_ENST00000267422.7_Missense_Mutation_p.G62C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	187	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATTATCAGACCTGCTGTGCTG	0.398																																							uc001wpy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(550-552)GGT>TGT		neuro-oncological ventral antigen 1 isoform 1							99.0	100.0	100.0					14																	26918139		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26918139C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.550G>T	14.37:g.26918139C>A	ENSP00000438875:p.Gly184Cys					NOVA1_uc001wpz.2_Missense_Mutation_p.G160C|NOVA1_uc001wqa.2_Missense_Mutation_p.G62C	p.G184C	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	868	-			187			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.550G>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424556	0.83667	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.67	5.67	0.87782	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	H	0.99273	4.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.90269	0.4306	10	0.87932	D	0	0.6483	19.7504	0.96265	0.0:1.0:0.0:0.0	.	187;160;184	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	C	160;184;62;143;38;62;147	ENSP00000447391:G160C;ENSP00000438875:G184C;ENSP00000267422:G62C;ENSP00000408914:G143C;ENSP00000299472:G38C;ENSP00000449113:G62C;ENSP00000449185:G147C	ENSP00000267422:G62C	G	-	1	0	NOVA1	25987979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.563000	0.77884	GGT		0.398	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		5	70	1	0	0.000602214	0.000602	0.000676645	5	70				
AKAP6	9472	broad.mit.edu	37	14	33291653	33291653	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:33291653A>G	ENST00000280979.4	+	13	4804	c.4634A>G	c.(4633-4635)aAt>aGt	p.N1545S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1545					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAAGTGGCAATATAGAAAAG	0.398																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4633-4635)AAT>AGT		A-kinase anchor protein 6							108.0	114.0	112.0					14																	33291653		2202	4299	6501	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291653A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4634A>G	14.37:g.33291653A>G	ENSP00000280979:p.Asn1545Ser						p.N1545S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4804	+	Breast(36;0.0388)|Prostate(35;0.15)		1545					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4634A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	9.937	1.216411	0.22373	.	.	ENSG00000151320	ENST00000280979	T	0.05258	3.47	5.79	5.79	0.91817	.	0.488214	0.23017	N	0.052892	T	0.05456	0.0144	N	0.14661	0.345	0.80722	D	1	B	0.17465	0.022	B	0.09377	0.004	T	0.37842	-0.9688	10	0.66056	D	0.02	-4.9478	14.6827	0.69028	1.0:0.0:0.0:0.0	.	1545	Q13023	AKAP6_HUMAN	S	1545	ENSP00000280979:N1545S	ENSP00000280979:N1545S	N	+	2	0	AKAP6	32361404	0.975000	0.34042	0.177000	0.23020	0.907000	0.53573	7.170000	0.77587	2.209000	0.71365	0.528000	0.53228	AAT		0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		11	58	0	0	0	0.010729	0	11	58				
AKAP6	9472	broad.mit.edu	37	14	33292084	33292084	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:33292084A>T	ENST00000280979.4	+	13	5235	c.5065A>T	c.(5065-5067)Aca>Tca	p.T1689S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1689	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGCATCTCTAACAGAACTTAG	0.443																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5065-5067)ACA>TCA		A-kinase anchor protein 6							90.0	86.0	87.0					14																	33292084		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292084A>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5065A>T	14.37:g.33292084A>T	ENSP00000280979:p.Thr1689Ser						p.T1689S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5235	+	Breast(36;0.0388)|Prostate(35;0.15)		1689			Ser-rich.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5065A>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130035	0.56721	.	.	ENSG00000151320	ENST00000280979	T	0.08896	3.04	5.89	5.89	0.94794	.	0.104631	0.64402	D	0.000004	T	0.29028	0.0721	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.00740	-1.1586	10	0.59425	D	0.04	-11.582	16.302	0.82825	1.0:0.0:0.0:0.0	.	1689	Q13023	AKAP6_HUMAN	S	1689	ENSP00000280979:T1689S	ENSP00000280979:T1689S	T	+	1	0	AKAP6	32361835	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	6.678000	0.74508	2.255000	0.74692	0.477000	0.44152	ACA		0.443	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		19	48	0	0	0	0.006122	0	19	48				
MBIP	51562	broad.mit.edu	37	14	36785946	36785946	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:36785946G>A	ENST00000416007.4	-	2	289	c.202C>T	c.(202-204)Cct>Tct	p.P68S	MBIP_ENST00000318473.7_Missense_Mutation_p.P68S|MBIP_ENST00000359527.7_Missense_Mutation_p.P68S|MBIP_ENST00000603913.1_5'Flank	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	68					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AGCAATGCAGGCTGGAATGCC	0.388																																							uc001wtm.2		NA																	0					0						c.(202-204)CCT>TCT		MAP3K12 binding inhibitory protein 1 isoform 1							83.0	79.0	80.0					14																	36785946		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36785946G>A	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.202C>T	14.37:g.36785946G>A	ENSP00000399718:p.Pro68Ser					MBIP_uc001wto.2_Missense_Mutation_p.P68S|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.P68S	p.P68S	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	2	290	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		68					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.202C>T	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.362007|4.362007	0.82353|0.82353	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553549;ENST00000556427	.|T;T;T	.|0.64085	.|-0.08;-0.08;-0.08	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.163703	.|0.53938	.|D	.|0.000048	T|T	0.77498|0.77498	0.4139|0.4139	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.998	T|T	0.79117|0.79117	-0.1935|-0.1935	5|10	.|0.72032	.|D	.|0.01	-9.0684|-9.0684	19.0314|19.0314	0.92959|0.92959	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|68;68;68	.|Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;MBIP1_HUMAN	V|S	64|68;68;68;68;47;26	.|ENSP00000399718:P68S;ENSP00000324444:P68S;ENSP00000352517:P68S	.|ENSP00000324444:P68S	A|P	-|-	2|1	0|0	MBIP|MBIP	35855697|35855697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.036000|7.036000	0.76524|0.76524	2.588000|2.588000	0.87417|0.87417	0.585000|0.585000	0.79938|0.79938	GCC|CCT		0.388	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		4	39	0	0	0	0.009096	0	4	39				
FSCB	84075	broad.mit.edu	37	14	44975324	44975324	+	Silent	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:44975324G>C	ENST00000340446.4	-	1	1158	c.867C>G	c.(865-867)acC>acG	p.T289T	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	289						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTGGACATGGGTCTCTTCAG	0.493																																							uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(865-867)ACC>ACG		fibrous sheath CABYR binding protein							55.0	56.0	56.0					14																	44975324		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975324G>C	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.867C>G	14.37:g.44975324G>C							p.T289T	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1176	-			289					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.867C>G	CCDS9679.1																																																																																				0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		4	39	0	0	0	0.009096	0	4	39				
C14orf28	122525	broad.mit.edu	37	14	45369870	45369870	+	Missense_Mutation	SNP	A	A	T	rs143625340		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:45369870A>T	ENST00000325192.3	+	2	507	c.232A>T	c.(232-234)Agg>Tgg	p.R78W	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.R78W	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	78										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAACTTCCCTAGGGAACTCTC	0.343																																							uc001wvo.2		NA																	0				ovary(1)	1						c.(232-234)AGG>TGG		hypothetical protein LOC122525							41.0	42.0	42.0					14																	45369870		2203	4300	6503	SO:0001583	missense	122525							g.chr14:45369870A>T	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.232A>T	14.37:g.45369870A>T	ENSP00000326846:p.Arg78Trp					C14orf28_uc001wvp.1_Missense_Mutation_p.R78W	p.R78W	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN			2	498	+			78						Missense_Mutation	SNP	ENST00000325192.3	37	c.232A>T	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764538	0.31228	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.38560	1.13;1.13	5.86	4.71	0.59529	.	0.091940	0.64402	D	0.000001	T	0.35248	0.0925	N	0.14661	0.345	0.42832	D	0.994023	D	0.53619	0.961	P	0.50109	0.631	T	0.32052	-0.9921	10	0.87932	D	0	.	11.7029	0.51581	0.8518:0.1482:0.0:0.0	.	78	Q4W4Y0	CN028_HUMAN	W	78	ENSP00000326846:R78W;ENSP00000451791:R78W	ENSP00000326846:R78W	R	+	1	2	C14orf28	44439620	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.013000	0.49582	1.132000	0.42129	0.528000	0.53228	AGG		0.343	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		7	18	0	0	0	0.001984	0	7	18				
FANCM	57697	broad.mit.edu	37	14	45645576	45645576	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:45645576A>T	ENST00000267430.5	+	14	3704	c.3619A>T	c.(3619-3621)Aga>Tga	p.R1207*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.R1181*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1207					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCGTGATCAGAGAGGTGTACA	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	0				ovary(3)|lung(2)|breast(2)	7						c.(3619-3621)AGA>TGA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							83.0	83.0	83.0					14																	45645576		2203	4300	6503	SO:0001587	stop_gained	57697	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645576A>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3619A>T	14.37:g.45645576A>T	ENSP00000267430:p.Arg1207*					FANCM_uc010anf.2_Nonsense_Mutation_p.R1181*|FANCM_uc001wwe.3_Nonsense_Mutation_p.R743*|FANCM_uc010ang.2_Nonsense_Mutation_p.R421*	p.R1207*	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	3718	+			1207					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	c.3619A>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.31|12.31	1.899939|1.899939	0.33535|0.33535	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|.	.|.	.|.	5.5|5.5	0.154|0.154	0.14901|0.14901	.|.	.|0.759389	.|0.11712	.|N	.|0.536766	T|.	0.24044|.	0.0582|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32771|.	-0.9894|.	3|.	.|0.17369	.|T	.|0.5	.|.	4.3054|4.3054	0.10944|0.10944	0.5953:0.0:0.2619:0.1428|0.5953:0.0:0.2619:0.1428	.|.	.|.	.|.	.|.	V|X	139|1207;1181;723	.|.	.|ENSP00000267430:R1207X	E|R	+|+	2|1	0|2	FANCM|FANCM	44715326|44715326	0.006000|0.006000	0.16342|0.16342	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	0.212000|0.212000	0.17497|0.17497	0.395000|0.395000	0.25257|0.25257	0.482000|0.482000	0.46254|0.46254	GAG|AGA		0.348	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		11	38	0	0	0	0.008291	0	11	38				
DAAM1	23002	broad.mit.edu	37	14	59757977	59757977	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:59757977G>T	ENST00000395125.1	+	2	249	c.226G>T	c.(226-228)Gca>Tca	p.A76S	DAAM1_ENST00000360909.3_Missense_Mutation_p.A76S|DAAM1_ENST00000556135.1_Missense_Mutation_p.A76S|DAAM1_ENST00000351081.1_Missense_Mutation_p.A76S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	76	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGCCATGTTTGCACTTCCAGC	0.338																																							uc001xdz.1		NA																	0				ovary(1)	1						c.(226-228)GCA>TCA		dishevelled-associated activator of							98.0	93.0	95.0					14																	59757977		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59757977G>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.226G>T	14.37:g.59757977G>T	ENSP00000378557:p.Ala76Ser					DAAM1_uc001xea.1_Missense_Mutation_p.A76S|DAAM1_uc001xeb.1_Missense_Mutation_p.A76S	p.A76S	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	3	351	+			76			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.226G>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636880	0.67130	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000556135;ENST00000395125	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.79	5.79	0.91817	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	L	0.40543	1.245	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.85941	0.1458	10	0.14656	T	0.56	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	76;76	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	S	76	ENSP00000354162:A76S;ENSP00000247170:A76S;ENSP00000450498:A76S;ENSP00000378557:A76S	ENSP00000247170:A76S	A	+	1	0	DAAM1	58827730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.763000	0.98947	2.736000	0.93811	0.655000	0.94253	GCA		0.338	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		10	14	1	0	3.07112e-06	0.010729	3.94924e-06	10	14				
SLC38A6	145389	broad.mit.edu	37	14	61518616	61518616	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:61518616G>T	ENST00000267488.4	+	14	1278	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F	SLC38A6_ENST00000354886.2_Missense_Mutation_p.V388F|SLC38A6_ENST00000456840.2_Missense_Mutation_p.V365F	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	388					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGCAATATATGTTCCTGACAT	0.318																																							uc001xfg.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1162-1164)GTT>TTT		solute carrier family 38, member 6							135.0	123.0	127.0					14																	61518616		2203	4298	6501	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61518616G>T	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1162G>T	14.37:g.61518616G>T	ENSP00000267488:p.Val388Phe					SLC38A6_uc001xfh.1_Missense_Mutation_p.V388F|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.V365F	p.V388F	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	14	1278	+			388			Helical; (Potential).		C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.1162G>T	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702341	0.88924	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212	T;T;T;T;T	0.02606	4.23;4.23;4.23;4.23;4.23	6.02	6.02	0.97574	.	0.054773	0.64402	D	0.000001	T	0.21103	0.0508	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.989;0.983	T	0.00130	-1.2014	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	365;388;388	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	F	388;388;383;365;161	ENSP00000346959:V388F;ENSP00000267488:V388F;ENSP00000395851:V383F;ENSP00000413863:V365F;ENSP00000437190:V161F	ENSP00000267488:V388F	V	+	1	0	SLC38A6	60588369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.227000	0.89787	2.857000	0.98124	0.650000	0.86243	GTT		0.318	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			4	25	1	0	0.00024832	0.009096	0.000286393	4	25				
KCNH5	27133	broad.mit.edu	37	14	63174542	63174542	+	Missense_Mutation	SNP	G	G	T	rs144667189	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:63174542G>T	ENST00000322893.7	-	11	2919	c.2651C>A	c.(2650-2652)cCg>cAg	p.P884Q	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	884					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTGCTCTAGCGGACTTCGGGC	0.502																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2650-2652)CCG>CAG		potassium voltage-gated channel, subfamily H,							124.0	111.0	116.0					14																	63174542		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174542G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2651C>A	14.37:g.63174542G>T	ENSP00000321427:p.Pro884Gln					KCNH5_uc001xfy.2_3'UTR	p.P884Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2702	-			884			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2651C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382241	0.61845	.	.	ENSG00000140015	ENST00000322893	D	0.99129	-5.46	5.44	5.44	0.79542	.	0.059680	0.64402	D	0.000002	D	0.98223	0.9412	L	0.50333	1.59	0.80722	D	1	P	0.50369	0.934	P	0.47346	0.544	D	0.98586	1.0652	10	0.49607	T	0.09	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	884	Q8NCM2	KCNH5_HUMAN	Q	884	ENSP00000321427:P884Q	ENSP00000321427:P884Q	P	-	2	0	KCNH5	62244295	1.000000	0.71417	0.929000	0.37066	0.473000	0.32948	9.039000	0.93777	2.832000	0.97577	0.655000	0.94253	CCG		0.502	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		10	61	1	0	1.76689e-08	0.006214	2.52626e-08	10	61				
SYNE2	23224	broad.mit.edu	37	14	64408654	64408654	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:64408654G>T	ENST00000344113.4	+	5	501	c.289G>T	c.(289-291)Gcc>Tcc	p.A97S	SYNE2_ENST00000358025.3_Missense_Mutation_p.A97S|SYNE2_ENST00000356081.3_Missense_Mutation_p.A97S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.A97S|SYNE2_ENST00000341472.5_Missense_Mutation_p.A97S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	97	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATAGAACATGCCTTGACATT	0.328																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(289-291)GCC>TCC		spectrin repeat containing, nuclear envelope 2							83.0	78.0	80.0					14																	64408654		1803	4074	5877	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64408654G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.289G>T	14.37:g.64408654G>T	ENSP00000341781:p.Ala97Ser					SYNE2_uc001xgk.2_Missense_Mutation_p.A97S|SYNE2_uc001xgl.2_Missense_Mutation_p.A97S	p.A97S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	5	519	+			97			CH 1.|Cytoplasmic (Potential).|Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.289G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785681	0.70337	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25	5.37	5.37	0.77165	Calponin homology domain (5);	0.000000	0.49916	D	0.000132	D	0.98090	0.9370	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.74348	0.983;0.971;0.832	D	0.98971	1.0801	10	0.87932	D	0	.	19.4875	0.95035	0.0:0.0:1.0:0.0	.	97;97;97	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	S	97	ENSP00000350719:A97S;ENSP00000341781:A97S;ENSP00000344528:A97S;ENSP00000348382:A97S;ENSP00000452570:A97S	ENSP00000261678:A97S	A	+	1	0	SYNE2	63478407	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.722000	0.91452	2.685000	0.91497	0.603000	0.83216	GCC		0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		11	23	1	0	7.03913e-09	0.001368	1.02453e-08	11	23				
SLC8A3	6547	broad.mit.edu	37	14	70527586	70527586	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:70527586C>A	ENST00000381269.2	-	3	2608	c.1855G>T	c.(1855-1857)Ggt>Tgt	p.G619C	SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G619C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G619C|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000357887.3_Intron	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	619	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCGGTTCACCAAGGGCAATG	0.353																																							uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1855-1857)GGT>TGT		solute carrier family 8 (sodium/calcium							182.0	156.0	165.0					14																	70527586		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70527586C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1855G>T	14.37:g.70527586C>A	ENSP00000370669:p.Gly619Cys					SLC8A3_uc001xlu.2_Intron|SLC8A3_uc001xlv.2_5'UTR|SLC8A3_uc001xlw.2_Missense_Mutation_p.G619C|SLC8A3_uc001xlx.2_Intron|SLC8A3_uc001xlz.2_Missense_Mutation_p.G619C|SLC8A3_uc010ara.2_Intron|SLC8A3_uc001xma.2_Intron	p.G619C	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	3	2609	-			619			Calx-beta 2.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1855G>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476623	0.63737	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000534137	T;T;T	0.28454	1.61;1.61;1.61	5.93	5.93	0.95920	Na-Ca exchanger/integrin-beta4 (1);	0.595397	0.17186	N	0.183712	T	0.57621	0.2066	M	0.87456	2.885	0.80722	D	1	P;P;D	0.55605	0.847;0.938;0.972	P;P;P	0.54759	0.565;0.76;0.751	T	0.58940	-0.7547	10	0.44086	T	0.13	.	19.9541	0.97213	0.0:1.0:0.0:0.0	.	619;619;619	P57103-2;P57103;Q96QG1	.;NAC3_HUMAN;.	C	619	ENSP00000349392:G619C;ENSP00000370669:G619C;ENSP00000436688:G619C	ENSP00000349392:G619C	G	-	1	0	SLC8A3	69597339	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.706000	0.37878	2.821000	0.97095	0.555000	0.69702	GGT		0.353	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			14	31	1	0	0.000308642	0.003163	0.00035309	14	31				
SLC8A3	6547	broad.mit.edu	37	14	70633658	70633658	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:70633658T>A	ENST00000381269.2	-	2	2235	c.1482A>T	c.(1480-1482)ccA>ccT	p.P494P	SLC8A3_ENST00000528359.1_Silent_p.P494P|SLC8A3_ENST00000356921.2_Silent_p.P494P|SLC8A3_ENST00000534137.1_Silent_p.P494P|SLC8A3_ENST00000357887.3_Silent_p.P494P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	494					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCCCTCCTCTGGCTGCTCCT	0.512																																							uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1480-1482)CCA>CCT		solute carrier family 8 (sodium/calcium							90.0	92.0	91.0					14																	70633658		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633658T>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1482A>T	14.37:g.70633658T>A						SLC8A3_uc001xlw.2_Silent_p.P494P|SLC8A3_uc001xlx.2_Silent_p.P494P|SLC8A3_uc001xlz.2_Silent_p.P494P|SLC8A3_uc010ara.2_RNA	p.P494P	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2236	-			494			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1482A>T	CCDS35498.1																																																																																				0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			26	56	0	0	0	0.004656	0	26	56				
SYNDIG1L	646658	broad.mit.edu	37	14	74874330	74874330	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:74874330G>T	ENST00000554823.1	-	3	686	c.625C>A	c.(625-627)Cta>Ata	p.L209I	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.L209I			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	209					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						AGTGTGGCTAGGAAGAGGGCC	0.622																																							uc001xpx.2		NA																	0					0						c.(625-627)CTA>ATA		transmembrane protein 90A							60.0	78.0	72.0					14																	74874330		2100	4232	6332	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74874330G>T		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.625C>A	14.37:g.74874330G>T	ENSP00000450439:p.Leu209Ile						p.L209I	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	4	873	-			209			Helical; (Potential).			Missense_Mutation	SNP	ENST00000554823.1	37	c.625C>A	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506268	0.85282	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.87966	-2.32;-2.32	4.84	3.02	0.34903	.	0.000000	0.64402	D	0.000008	D	0.88273	0.6392	L	0.29908	0.895	0.48762	D	0.999708	D	0.89917	1.0	D	0.87578	0.998	D	0.87659	0.2533	10	0.72032	D	0.01	-6.6513	11.0095	0.47654	0.1509:0.0:0.8491:0.0	.	209	A6NDD5	SYN1L_HUMAN	I	209	ENSP00000331474:L209I;ENSP00000450439:L209I	ENSP00000331474:L209I	L	-	1	2	SYNDIG1L	73944083	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.787000	0.62432	0.643000	0.30638	0.561000	0.74099	CTA		0.622	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		36	56	1	0	1.836e-18	0.003755	3.32396e-18	36	56				
ESRRB	2103	broad.mit.edu	37	14	76966235	76966235	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:76966235C>T	ENST00000509242.1	+	9	1424	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	ESRRB_ENST00000380887.2_Silent_p.P442P|ESRRB_ENST00000261532.7_3'UTR|RP11-187O7.3_ENST00000554926.1_lincRNA	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	442					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GAGGATCTCCCAAGGATGAAA	0.517																																							uc001xsr.2		NA																	0				ovary(1)|skin(1)	2						c.(1324-1326)CCC>CCT		estrogen-related receptor beta							101.0	86.0	91.0					14																	76966235		2203	4300	6503	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76966235C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1326C>T	14.37:g.76966235C>T						ESRRB_uc001xso.2_RNA	p.P442P	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	10	1697	+			442					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.1326C>T	CCDS9850.2																																																																																				0.517	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			15	24	0	0	0	0.00245	0	15	24				
CEP128	145508	broad.mit.edu	37	14	81259188	81259188	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:81259188C>A	ENST00000555265.1	-	14	1851	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	CEP128_ENST00000281129.3_Missense_Mutation_p.Q492H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	492						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TAAGCTTCCACTGCCTAATGG	0.458																																							uc001xux.2		NA																	0					0						c.(1474-1476)CAG>CAT		hypothetical protein LOC145508							213.0	195.0	201.0					14																	81259188		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259188C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1476G>T	14.37:g.81259188C>A	ENSP00000451162:p.Gln492His					C14orf145_uc010asz.1_RNA	p.Q492H	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	13	1647	-			492			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1476G>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.497044	0.26861	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.38240	1.15;1.15	5.58	2.28	0.28536	.	0.070593	0.64402	D	0.000020	T	0.23532	0.0569	L	0.43923	1.385	0.80722	D	1	B	0.23377	0.084	B	0.21917	0.037	T	0.08785	-1.0705	10	0.30854	T	0.27	.	1.8989	0.03264	0.1298:0.433:0.1269:0.3102	.	492	Q6ZU80	CE128_HUMAN	H	492	ENSP00000281129:Q492H;ENSP00000451162:Q492H	ENSP00000281129:Q492H	Q	-	3	2	CEP128	80328941	0.795000	0.28851	0.999000	0.59377	0.987000	0.75469	-0.238000	0.08977	0.146000	0.19002	0.650000	0.86243	CAG		0.458	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		34	68	1	0	1.36161e-19	0.004289	2.49972e-19	34	68				
KCNK10	54207	broad.mit.edu	37	14	88729848	88729848	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:88729848T>A	ENST00000340700.5	-	2	536	c.85A>T	c.(85-87)Aac>Tac	p.N29Y	KCNK10_ENST00000319231.5_Missense_Mutation_p.N34Y|KCNK10_ENST00000312350.5_Missense_Mutation_p.N34Y	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	29					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGTTGCCCGTTAGTGGCGCTC	0.607																																							uc001xwo.2		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(85-87)AAC>TAC		potassium channel, subfamily K, member 10							39.0	45.0	43.0					14																	88729848		2202	4300	6502	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729848T>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.85A>T	14.37:g.88729848T>A	ENSP00000343104:p.Asn29Tyr					KCNK10_uc001xwm.2_Missense_Mutation_p.N34Y|KCNK10_uc001xwn.2_Missense_Mutation_p.N34Y	p.N29Y	NM_021161	NP_066984	P57789	KCNKA_HUMAN			2	542	-			29			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.85A>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273190	0.80580	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.91792	-2.91;-2.87;-2.82;0.79	5.87	5.87	0.94306	.	0.958537	0.08797	N	0.892417	D	0.90807	0.7113	L	0.43152	1.355	0.34213	D	0.674461	B;P;B	0.46277	0.07;0.875;0.162	B;B;B	0.41510	0.123;0.359;0.172	D	0.90405	0.4405	10	0.72032	D	0.01	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	29;34;34	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	Y	29;34;34;17	ENSP00000343104:N29Y;ENSP00000310568:N34Y;ENSP00000312811:N34Y;ENSP00000452587:N17Y	ENSP00000310568:N34Y	N	-	1	0	KCNK10	87799601	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.155000	0.64900	2.371000	0.80710	0.533000	0.62120	AAC		0.607	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		4	57	0	0	0	0.000602	0	4	57				
UNC79	57578	broad.mit.edu	37	14	94007138	94007138	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:94007138C>A	ENST00000393151.2	+	13	1485	c.1485C>A	c.(1483-1485)caC>caA	p.H495Q	UNC79_ENST00000553484.1_Missense_Mutation_p.H495Q|UNC79_ENST00000256339.4_Missense_Mutation_p.H318Q|UNC79_ENST00000555664.1_Missense_Mutation_p.H495Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	495					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGATAAACACGATCAGAGGC	0.433																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(952-954)CAC>CAA		hypothetical protein LOC57578							94.0	97.0	96.0					14																	94007138		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94007138C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1485C>A	14.37:g.94007138C>A	ENSP00000376858:p.His495Gln					KIAA1409_uc001ybs.1_Missense_Mutation_p.H318Q|KIAA1409_uc001ybu.1_Missense_Mutation_p.H256Q	p.H318Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	10	1037	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	495					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.954C>A		.	.	.	.	.	.	.	.	.	.	C	10.70	1.424582	0.25639	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.61	-7.6	0.01303	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	L	0.36672	1.1	0.35152	D	0.769838	D;D	0.64830	0.994;0.984	D;D	0.75484	0.986;0.979	T	0.33266	-0.9875	10	0.59425	D	0.04	-18.5236	17.6302	0.88104	0.0:0.2191:0.0:0.7809	.	495;495	C9JQL1;Q9P2D8	.;UNC79_HUMAN	Q	318;495;495;495;495	ENSP00000256339:H318Q;ENSP00000450868:H495Q;ENSP00000451360:H495Q;ENSP00000376858:H495Q	ENSP00000256339:H318Q	H	+	3	2	KIAA1409	93076891	0.015000	0.18098	0.282000	0.24776	0.329000	0.28539	-0.921000	0.04008	-1.575000	0.01655	-2.990000	0.00078	CAC		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		26	40	1	0	2.41591e-17	0.004656	4.31413e-17	26	40				
SERPINA11	256394	broad.mit.edu	37	14	94914504	94914504	+	Missense_Mutation	SNP	G	G	T	rs188994371		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:94914504G>T	ENST00000334708.3	-	2	672	c.608C>A	c.(607-609)aCg>aAg	p.T203K	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	203					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T385R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AACCATGAACGTGTCCTGGCT	0.468																																							uc001ydd.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(607-609)ACG>AAG		serpin peptidase inhibitor, clade A (alpha-1							98.0	99.0	99.0					14																	94914504		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914504G>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.608C>A	14.37:g.94914504G>T	ENSP00000335024:p.Thr203Lys						p.T203K	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	668	-			203					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.608C>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135089	0.37728	.	.	ENSG00000186910	ENST00000334708	D	0.87491	-2.26	4.91	4.02	0.46733	Serpin domain (3);	0.085398	0.49916	D	0.000134	D	0.95303	0.8476	H	0.96576	3.845	0.40146	D	0.976893	P	0.49559	0.925	D	0.65874	0.939	D	0.96743	0.9548	10	0.87932	D	0	.	13.5409	0.61672	0.0751:0.0:0.9249:0.0	.	203	Q86U17	SPA11_HUMAN	K	203	ENSP00000335024:T203K	ENSP00000335024:T203K	T	-	2	0	SERPINA11	93984257	1.000000	0.71417	0.836000	0.33094	0.031000	0.12232	3.132000	0.50523	1.301000	0.44836	-0.254000	0.11334	ACG		0.468	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		28	45	1	0	2.48779e-11	0.005443	3.92324e-11	28	45				
SERPINA11	256394	broad.mit.edu	37	14	94914644	94914644	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:94914644G>A	ENST00000334708.3	-	2	532	c.468C>T	c.(466-468)agC>agT	p.S156S	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	156					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTCCTTGATGCTGTCCAAAT	0.468																																							uc001ydd.1		NA																	0				kidney(1)	1						c.(466-468)AGC>AGT		serpin peptidase inhibitor, clade A (alpha-1							161.0	169.0	166.0					14																	94914644		2203	4300	6503	SO:0001819	synonymous_variant	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914644G>A	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.468C>T	14.37:g.94914644G>A							p.S156S	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	528	-			156					B2RV07	Silent	SNP	ENST00000334708.3	37	c.468C>T	CCDS32149.1																																																																																				0.468	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		40	94	0	0	0	0.007835	0	40	94				
SERPINA4	5267	broad.mit.edu	37	14	95030053	95030053	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:95030053C>A	ENST00000557004.1	+	2	655	c.234C>A	c.(232-234)tcC>tcA	p.S78S	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.S78S|SERPINA4_ENST00000555095.1_Silent_p.S78S			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	78					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCTTTTTCTCCCCGCTGAGCA	0.617																																							uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(232-234)TCC>TCA		serine (or cysteine) proteinase inhibitor, clade							53.0	52.0	52.0					14																	95030053		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030053C>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.234C>A	14.37:g.95030053C>A						SERPINA4_uc010avd.2_Silent_p.S115S|SERPINA4_uc001ydl.2_Silent_p.S78S	p.S78S	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	300	+			78					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.234C>A	CCDS9927.1																																																																																				0.617	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		12	51	1	0	4.36969e-10	0.001855	6.60896e-10	12	51				
BDKRB2	624	broad.mit.edu	37	14	96707667	96707667	+	Silent	SNP	C	C	A	rs138780728	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:96707667C>A	ENST00000306005.3	+	3	1198	c.1002C>A	c.(1000-1002)atC>atA	p.I334I	BDKRB2_ENST00000542454.2_Silent_p.I307I|BDKRB2_ENST00000539359.1_Silent_p.I307I|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.I334I	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	334					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TGTACGTGATCGTGGGCAAGC	0.562																																							uc010avm.1		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(1000-1002)ATC>ATA		bradykinin receptor B2							75.0	66.0	69.0					14																	96707667		2203	4300	6503	SO:0001819	synonymous_variant	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707667C>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.1002C>A	14.37:g.96707667C>A						BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.I307I|BDKRB2_uc001yfg.2_Silent_p.I334I	p.I334I	NM_000623	NP_000614	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	1198	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	334			Helical; Name=7; (Potential).			Silent	SNP	ENST00000306005.3	37	c.1002C>A	CCDS9942.1																																																																																				0.562	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			8	29	1	0	0.00307968	0.00308	0.00336253	8	29				
HHIPL1	84439	broad.mit.edu	37	14	100118597	100118597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:100118597G>T	ENST00000330710.5	+	2	390	c.292G>T	c.(292-294)Gag>Tag	p.E98*	HHIPL1_ENST00000357223.2_Nonsense_Mutation_p.E98*	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	98					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CTATGACGCCGAGGACCCATT	0.592																																							uc010avs.2		NA																	0				skin(2)	2						c.(292-294)GAG>TAG		HHIP-like protein 1 isoform a							67.0	66.0	66.0					14																	100118597		2203	4300	6503	SO:0001587	stop_gained	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118597G>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.292G>T	14.37:g.100118597G>T	ENSP00000330601:p.Glu98*					HHIPL1_uc001ygl.1_Nonsense_Mutation_p.E98*	p.E98*	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			2	357	+		Melanoma(154;0.128)	98					A2RUF8|B2RN09|Q6UXX2	Nonsense_Mutation	SNP	ENST00000330710.5	37	c.292G>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.268297	0.80469	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2331	0.89941	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000330601:E98X	E	+	1	0	HHIPL1	99188350	1.000000	0.71417	0.947000	0.38551	0.025000	0.11179	9.869000	0.99810	2.354000	0.79902	0.655000	0.94253	GAG		0.592	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		12	35	1	0	3.27435e-08	0.00245	4.64253e-08	12	35				
DYNC1H1	1778	broad.mit.edu	37	14	102516461	102516461	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:102516461G>C	ENST00000360184.4	+	77	13902	c.13738G>C	c.(13738-13740)Gcc>Ccc	p.A4580P	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4580					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTGTCCAATGCCATCTCAAC	0.562																																							uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(13738-13740)GCC>CCC		cytoplasmic dynein 1 heavy chain 1							106.0	92.0	97.0					14																	102516461		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516461G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13738G>C	14.37:g.102516461G>C	ENSP00000348965:p.Ala4580Pro						p.A4580P	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			77	13902	+			4580					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13738G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384036	0.25031	.	.	ENSG00000197102	ENST00000360184	T	0.09073	3.02	5.42	5.42	0.78866	Dynein heavy chain (1);	0.121228	0.56097	D	0.000026	T	0.09862	0.0242	L	0.29908	0.895	0.54753	D	0.999989	B	0.26902	0.163	B	0.31495	0.131	T	0.26950	-1.0088	10	0.31617	T	0.26	.	19.2092	0.93747	0.0:0.0:1.0:0.0	.	4580	Q14204	DYHC1_HUMAN	P	4580	ENSP00000348965:A4580P	ENSP00000348965:A4580P	A	+	1	0	DYNC1H1	101586214	1.000000	0.71417	0.956000	0.39512	0.027000	0.11550	3.967000	0.56802	2.551000	0.86045	0.491000	0.48974	GCC		0.562	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		17	33	0	0	0	0.007413	0	17	33				
C14orf180	400258	broad.mit.edu	37	14	105054645	105054645	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:105054645G>T	ENST00000557649.1	+	4	612	c.276G>T	c.(274-276)agG>agT	p.R92S	C14orf180_ENST00000331952.2_Splice_Site_p.R92S|C14orf180_ENST00000410013.1_Splice_Site_p.R92S|RP11-614O9.1_ENST00000556073.1_RNA			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		CCACTGTCAGGGGTGAGTTCT	0.662																																							uc001yow.1		NA																	0					0						c.(274-276)AGG>AGT		hypothetical protein LOC400258							89.0	99.0	96.0					14																	105054645		2203	4300	6503	SO:0001630	splice_region_variant	400258					integral to membrane		g.chr14:105054645G>T		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"""nutritionally-regulated adipose and cardiac-enriched"""		"""chromosome 14 open reading frame 77"""	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.277+1G>T	14.37:g.105054645G>T						C14orf180_uc010tyh.1_Missense_Mutation_p.R92S|C14orf180_uc010awy.1_Missense_Mutation_p.R92S	p.R92S	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)	4	577	+		Melanoma(154;0.226)	92						Missense_Mutation	SNP	ENST00000557649.1	37	c.276G>T	CCDS32166.1	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964198	0.18583	.	.	ENSG00000184601	ENST00000557649;ENST00000331952;ENST00000553873;ENST00000410013	.	.	.	3.06	0.736	0.18307	.	.	.	.	.	T	0.24005	0.0581	N	0.19112	0.55	0.09310	N	1	B;B;B	0.16166	0.016;0.007;0.016	B;B;B	0.13407	0.009;0.009;0.009	T	0.20638	-1.0269	8	0.25106	T	0.35	-13.6441	6.7546	0.23505	0.0:0.0:0.4954:0.5046	.	92;92;92	B4DN93;G3V2Z8;Q8N912	.;.;CN180_HUMAN	S	92	.	ENSP00000333041:R92S	R	+	3	2	C14orf180	104125690	0.270000	0.24152	0.018000	0.16275	0.007000	0.05969	-0.032000	0.12266	0.513000	0.28278	0.491000	0.48974	AGG		0.662	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404	Missense_Mutation	29	66	1	0	5.77227e-19	0.008361	1.05063e-18	29	66				
ADSSL1	122622	broad.mit.edu	37	14	105206120	105206120	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:105206120A>T	ENST00000330877.2	+	5	528	c.443A>T	c.(442-444)cAg>cTg	p.Q148L	ADSSL1_ENST00000332972.5_Missense_Mutation_p.Q191L	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GACGGACTTCAGGAAGTGCAG	0.592																																							uc001ypd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(442-444)CAG>CTG		adenylosuccinate synthase like 1 isoform 2	L-Aspartic Acid(DB00128)						69.0	67.0	68.0					14																	105206120		2203	4300	6503	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105206120A>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.443A>T	14.37:g.105206120A>T	ENSP00000331260:p.Gln148Leu					INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.Q191L|ADSSL1_uc001ypf.2_RNA	p.Q148L	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	5	517	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	148						Missense_Mutation	SNP	ENST00000330877.2	37	c.443A>T	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.585052	0.46110	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.42900	0.96;0.96	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.37466	1.105	0.80722	D	1	B;B	0.28324	0.207;0.036	B;B	0.15870	0.014;0.008	T	0.19516	-1.0303	10	0.62326	D	0.03	-4.1258	13.8933	0.63753	1.0:0.0:0.0:0.0	.	191;148	Q8N142-2;Q8N142	.;PURA1_HUMAN	L	148;191	ENSP00000331260:Q148L;ENSP00000333019:Q191L	ENSP00000331260:Q148L	Q	+	2	0	ADSSL1	104277165	1.000000	0.71417	0.927000	0.36925	0.604000	0.37047	8.848000	0.92172	1.676000	0.50930	0.533000	0.62120	CAG		0.592	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			20	25	0	0	0	0.012319	0	20	25				
AHNAK2	113146	broad.mit.edu	37	14	105409436	105409436	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:105409436C>T	ENST00000333244.5	-	7	12471	c.12352G>A	c.(12352-12354)Gac>Aac	p.D4118N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4118						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGACAGGTCCCCCTCCAGC	0.587																																							uc010axc.1		NA																	0				ovary(1)	1						c.(12352-12354)GAC>AAC		AHNAK nucleoprotein 2							234.0	244.0	241.0					14																	105409436		2011	4159	6170	SO:0001583	missense	113146					nucleus		g.chr14:105409436C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12352G>A	14.37:g.105409436C>T	ENSP00000353114:p.Asp4118Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.D4018N	p.D4118N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12472	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4118					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12352G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	17.76	3.468312	0.63625	.	.	ENSG00000185567	ENST00000333244	T	0.02121	4.44	4.3	4.3	0.51218	.	1.742200	0.04322	U	0.350875	T	0.12689	0.0308	M	0.82517	2.595	0.09310	N	1	D	0.67145	0.996	P	0.59889	0.865	T	0.28202	-1.0051	10	0.24483	T	0.36	.	12.3299	0.55033	0.0:1.0:0.0:0.0	.	4118	Q8IVF2	AHNK2_HUMAN	N	4118	ENSP00000353114:D4118N	ENSP00000353114:D4118N	D	-	1	0	AHNAK2	104480481	0.021000	0.18746	0.014000	0.15608	0.060000	0.15804	1.610000	0.36869	1.970000	0.57323	0.485000	0.47835	GAC		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		69	242	0	0	0	0.00361	0	69	242				
OR4M2	390538	broad.mit.edu	37	15	22368783	22368783	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:22368783G>T	ENST00000332663.2	+	1	306	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		GGCCTTCCTTGATATTTGGTA	0.418																																							uc010tzu.1		NA																	0				ovary(1)	1						c.(208-210)GAT>TAT		olfactory receptor, family 4, subfamily M,							456.0	393.0	414.0					15																	22368783		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368783G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.208G>T	15.37:g.22368783G>T	ENSP00000329467:p.Asp70Tyr					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.D70Y	NM_001004719	NP_001004719	Q8NGB6	OR4M2_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)	1	208	+		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)	70			Helical; Name=2; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.208G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	17.22	3.335103	0.60853	.	.	ENSG00000182974	ENST00000332663	T	0.01185	5.21	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000162	T	0.11965	0.0291	H	0.98388	4.22	0.45718	D	0.99862	D	0.89917	1.0	D	0.97110	1.0	T	0.04522	-1.0945	10	0.87932	D	0	-12.2494	10.8078	0.46529	0.0:0.0:1.0:0.0	.	70	Q8NGB6	OR4M2_HUMAN	Y	70	ENSP00000329467:D70Y	ENSP00000329467:D70Y	D	+	1	0	OR4M2	19870147	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.429000	0.97481	1.422000	0.47177	0.448000	0.29417	GAT		0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			85	280	1	0	2.56433e-40	0.00361	4.97643e-40	85	280				
OR4N4	283694	broad.mit.edu	37	15	22382574	22382574	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:22382574C>G	ENST00000328795.4	+	1	193	c.102C>G	c.(100-102)ttC>ttG	p.F34L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	34						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)		TCTTAATTTTCTACCTTATCA	0.423																																							uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(100-102)TTC>TTG		olfactory receptor, family 4, subfamily N,							179.0	179.0	179.0					15																	22382574		2190	4263	6453	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382574C>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.102C>G	15.37:g.22382574C>G	ENSP00000332500:p.Phe34Leu					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.F34L	p.F34L	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	1083	+		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)	34			Helical; Name=1; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.102C>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	4.720	0.133865	0.09032	.	.	ENSG00000183706	ENST00000328795	T	0.00625	6.14	3.24	3.24	0.37175	.	0.000000	0.50627	D	0.000108	T	0.00496	0.0016	N	0.11724	0.165	0.34723	D	0.72896	P	0.36753	0.568	B	0.40066	0.318	T	0.67185	-0.5734	10	0.15952	T	0.53	-21.6554	6.4571	0.21936	0.0:0.8617:0.0:0.1383	.	34	Q8N0Y3	OR4N4_HUMAN	L	34	ENSP00000332500:F34L	ENSP00000332500:F34L	F	+	3	2	OR4N4	19883938	0.000000	0.05858	0.910000	0.35882	0.010000	0.07245	-1.218000	0.02976	1.798000	0.52647	0.195000	0.17529	TTC		0.423	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			27	178	0	0	0	0.005443	0	27	178				
OR4N4	283694	broad.mit.edu	37	15	22383165	22383165	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:22383165A>T	ENST00000328795.4	+	1	784	c.693A>T	c.(691-693)gaA>gaT	p.E231D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	231						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)		CAGCTTCTGAAGGGAAGAACA	0.493																																							uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(691-693)GAA>GAT		olfactory receptor, family 4, subfamily N,							201.0	168.0	179.0					15																	22383165		2189	4260	6449	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383165A>T	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.693A>T	15.37:g.22383165A>T	ENSP00000332500:p.Glu231Asp					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.E231D	p.E231D	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	1674	+		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)	231			Cytoplasmic (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.693A>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.128	0.579302	0.13686	.	.	ENSG00000183706	ENST00000328795	T	0.00193	8.58	3.37	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.00178	0.0005	L	0.60904	1.88	0.23834	N	0.996711	B	0.18013	0.025	B	0.26770	0.073	T	0.44590	-0.9318	10	0.59425	D	0.04	-8.3208	5.2315	0.15424	0.3773:0.1791:0.4436:0.0	.	231	Q8N0Y3	OR4N4_HUMAN	D	231	ENSP00000332500:E231D	ENSP00000332500:E231D	E	+	3	2	OR4N4	19884529	0.000000	0.05858	0.065000	0.19835	0.001000	0.01503	-2.949000	0.00679	-0.244000	0.09639	-0.752000	0.03492	GAA		0.493	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			11	111	0	0	0	0.010729	0	11	111				
OR4N3P	390539	broad.mit.edu	37	15	22414250	22414250	+	IGR	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:22414250G>A								RP11-69H14.6 (30442 upstream) : RP11-2F9.4 (19639 downstream)																							GCCCCTTCAGGGCTTTCCCAG	0.453																																							uc001yuf.2		NA																	0					0						c.(547-549)AGG>AGA		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22414250G>A																													15.37:g.22414250G>A							p.R183R	NM_001080841	NP_001074310					1	549	+									Silent	SNP		37	c.549G>A																																																																																				0	0.453									15	92	0	0	0	0.003163	0	15	92				
NPAP1	23742	broad.mit.edu	37	15	24921403	24921403	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:24921403C>T	ENST00000329468.2	+	1	863	c.389C>T	c.(388-390)cCa>cTa	p.P130L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	130					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTGCCTTCACCACGTGAGCCG	0.627																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(388-390)CCA>CTA		hypothetical protein LOC23742							53.0	44.0	47.0					15																	24921403		2203	4299	6502	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921403C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.389C>T	15.37:g.24921403C>T	ENSP00000333735:p.Pro130Leu						p.P130L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	863	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	130						Missense_Mutation	SNP	ENST00000329468.2	37	c.389C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	3.788	-0.044213	0.07452	.	.	ENSG00000185823	ENST00000329468	T	0.05319	3.46	2.27	-2.02	0.07388	.	0.962600	0.08471	N	0.940934	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	1	B	0.20988	0.05	B	0.15052	0.012	T	0.47761	-0.9092	10	0.21540	T	0.41	.	6.261	0.20899	0.0:0.3663:0.0:0.6337	.	130	Q9NZP6	CO002_HUMAN	L	130	ENSP00000333735:P130L	ENSP00000333735:P130L	P	+	2	0	C15orf2	22472496	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.290000	0.02777	-0.553000	0.06158	-0.350000	0.07774	CCA		0.627	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		11	16	0	0	0	0.008291	0	11	16				
SNRPN	6638	broad.mit.edu	37	15	25222171	25222171	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:25222171C>A	ENST00000400100.1	+	10	1305	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	SNRPN_ENST00000444203.2_Missense_Mutation_p.Q143K|SNRPN_ENST00000400098.1_Missense_Mutation_p.Q139K|SNRPN_ENST00000554227.2_Missense_Mutation_p.Q143K|SNRPN_ENST00000346403.6_Missense_Mutation_p.Q139K|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000390687.4_Missense_Mutation_p.Q139K|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000577565.1_Missense_Mutation_p.Q139K|SNRPN_ENST00000400097.1_Missense_Mutation_p.Q139K	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	139					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGACCATCCCAGCAGGTGAG	0.532									Prader-Willi syndrome																														uc001ywp.1		NA																	0				ovary(1)	1						c.(415-417)CAG>AAG		small nuclear ribonucleoprotein polypeptide N							34.0	37.0	36.0					15																	25222171		1837	4091	5928	SO:0001583	missense	6638	Prader-Willsyndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222171C>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.415C>A	15.37:g.25222171C>A	ENSP00000382972:p.Gln139Lys					SNRPN_uc001ywq.1_Missense_Mutation_p.Q139K|SNRPN_uc001ywr.1_Missense_Mutation_p.Q139K|SNRPN_uc001yws.1_Missense_Mutation_p.Q139K|SNRPN_uc001ywt.1_Missense_Mutation_p.Q139K|SNRPN_uc001ywv.1_Missense_Mutation_p.Q142K|SNRPN_uc001yww.1_Missense_Mutation_p.Q139K|SNRPN_uc001ywx.1_Missense_Mutation_p.Q139K|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.Q139K	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	10	1305	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	139					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.415C>A	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217423	0.58560	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	3.79	1.89	0.25635	.	0.068215	0.64402	D	0.000009	T	0.51719	0.1691	M	0.78049	2.395	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.55785	0.784;0.784	T	0.49244	-0.8960	10	0.44086	T	0.13	-14.7983	6.5985	0.22687	0.1788:0.7213:0.0:0.0999	.	143;139	B3KVR1;P63162	.;RSMN_HUMAN	K	139;139;139;143;139;143	ENSP00000382972:Q139K;ENSP00000382970:Q139K;ENSP00000382969:Q139K;ENSP00000452342:Q143K;ENSP00000375105:Q139K;ENSP00000408767:Q143K	ENSP00000375105:Q139K	Q	+	1	0	SNRPN	22773264	1.000000	0.71417	0.960000	0.40013	0.825000	0.46686	6.271000	0.72569	0.568000	0.29311	-0.268000	0.10319	CAG		0.532	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		9	13	1	0	0.00448238	0.004482	0.00487215	9	13				
OCA2	4948	broad.mit.edu	37	15	28200349	28200349	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:28200349C>T	ENST00000354638.3	-	17	1952	c.1797G>A	c.(1795-1797)caG>caA	p.Q599Q	OCA2_ENST00000382996.2_Silent_p.Q599Q|OCA2_ENST00000353809.5_Silent_p.Q575Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	599					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTTGTCCTCCTGTGAGATCT	0.483									Oculocutaneous Albinism																														uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(1795-1797)CAG>CAA		oculocutaneous albinism II							216.0	208.0	211.0					15																	28200349		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28200349C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1797G>A	15.37:g.28200349C>T						OCA2_uc010ayv.2_Silent_p.Q575Q	p.Q599Q	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	17	1907	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	599			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1797G>A	CCDS10020.1																																																																																				0.483	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		36	23	0	0	0	0.009718	0	36	23				
FMN1	342184	broad.mit.edu	37	15	33261322	33261322	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:33261322C>A	ENST00000559047.1	-	5	2579	c.2580G>T	c.(2578-2580)atG>atT	p.M860I	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.M762I|FMN1_ENST00000334528.9_Missense_Mutation_p.M637I			Q68DA7	FMN1_HUMAN	formin 1	860					actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GATTTGATGCCATGCCCTCCA	0.547																																							uc001zhf.3		NA																	0				ovary(1)	1						c.(1909-1911)ATG>ATT		formin 1							101.0	98.0	99.0					15																	33261322		2033	4181	6214	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261322C>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2580G>T	15.37:g.33261322C>A	ENSP00000454047:p.Met860Ile						p.M637I	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1911	-		all_lung(180;1.14e-07)	860					Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1911G>T		.	.	.	.	.	.	.	.	.	.	C	0	-2.726381	0.00091	.	.	ENSG00000248905	ENST00000334528	T	0.35973	1.28	4.17	1.23	0.21249	.	1.385440	0.04543	N	0.388522	T	0.21227	0.0511	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	9	0.19590	T	0.45	.	10.3562	0.43964	0.0792:0.1764:0.7444:0.0	.	637	Q68DA7-5	.	I	637	ENSP00000333950:M637I	ENSP00000333950:M637I	M	-	3	0	FMN1	31048614	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	0.910000	0.28571	0.075000	0.16796	-0.273000	0.10243	ATG		0.547	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		10	24	1	0	1.08611e-07	0.010729	1.49384e-07	10	24				
RYR3	6263	broad.mit.edu	37	15	33945067	33945067	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:33945067C>A	ENST00000389232.4	+	32	4361	c.4291C>A	c.(4291-4293)Ctg>Atg	p.L1431M	RYR3_ENST00000415757.3_Missense_Mutation_p.L1431M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1431	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGAAAGGAACTGGGCACCTG	0.557																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4291-4293)CTG>ATG		ryanodine receptor 3							111.0	111.0	111.0					15																	33945067		1990	4171	6161	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33945067C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4291C>A	15.37:g.33945067C>A	ENSP00000373884:p.Leu1431Met					RYR3_uc010bar.2_Missense_Mutation_p.L1431M	p.L1431M	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	32	4361	+		all_lung(180;7.18e-09)	1431			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4291C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113546	0.37339	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74947	-0.89;-0.89	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.075710	0.53938	D	0.000042	T	0.62466	0.2430	N	0.22421	0.69	0.43073	D	0.994719	B;B	0.29988	0.264;0.024	B;B	0.28991	0.097;0.088	T	0.61715	-0.7006	10	0.40728	T	0.16	.	14.9512	0.71077	0.0:0.8577:0.1423:0.0	.	1431;1431	Q15413-2;Q15413	.;RYR3_HUMAN	M	1431	ENSP00000373884:L1431M;ENSP00000399610:L1431M	ENSP00000354735:L1431M	L	+	1	2	RYR3	31732359	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	1.819000	0.39022	2.809000	0.96659	0.650000	0.86243	CTG		0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	22	1	0	2.6416e-12	0.00623	4.29734e-12	36	22				
THBS1	7057	broad.mit.edu	37	15	39884809	39884809	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:39884809A>T	ENST00000260356.5	+	17	2738	c.2573A>T	c.(2572-2574)aAc>aTc	p.N858I	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	858					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ACCTGTGACAACAATCAGGAT	0.443																																							uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2572-2574)AAC>ATC		thrombospondin 1 precursor	Becaplermin(DB00102)						72.0	58.0	62.0					15																	39884809		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884809A>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2573A>T	15.37:g.39884809A>T	ENSP00000260356:p.Asn858Ile					THBS1_uc010bbi.2_Missense_Mutation_p.N330I	p.N858I	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2752	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	858			TSP type-3 6.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2573A>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263899	0.59431	.	.	ENSG00000137801	ENST00000260356	D	0.97752	-4.52	5.0	3.71	0.42584	.	0.000000	0.39407	N	0.001364	D	0.98629	0.9541	M	0.92691	3.335	0.45704	D	0.998612	D;D	0.60160	0.987;0.98	D;P	0.64776	0.929;0.821	D	0.98433	1.0583	10	0.72032	D	0.01	-29.2865	9.002	0.36088	0.8333:0.0:0.1667:0.0	.	773;858	B4E3J7;P07996	.;TSP1_HUMAN	I	858	ENSP00000260356:N858I	ENSP00000260356:N858I	N	+	2	0	THBS1	37672101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.479000	0.53165	0.701000	0.31803	0.533000	0.62120	AAC		0.443	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	6	0	0	0	0.000602	0	5	6				
DISP2	85455	broad.mit.edu	37	15	40657469	40657469	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:40657469C>A	ENST00000267889.3	+	6	928	c.841C>A	c.(841-843)Ccc>Acc	p.P281T		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	281					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTTCTGTGGCCCCCCTGGTAA	0.607																																							uc001zlk.1		NA																	0				ovary(2)	2						c.(841-843)CCC>ACC		dispatched B							27.0	32.0	30.0					15																	40657469		2203	4299	6502	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40657469C>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.841C>A	15.37:g.40657469C>A	ENSP00000267889:p.Pro281Thr						p.P281T	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	6	930	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	281					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.841C>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624752	0.28889	.	.	ENSG00000140323	ENST00000267889	T	0.11930	2.73	4.33	3.38	0.38709	.	0.181971	0.48286	D	0.000183	T	0.10723	0.0262	L	0.51422	1.61	0.37522	D	0.917598	P	0.38504	0.634	B	0.31101	0.124	T	0.22626	-1.0211	10	0.17832	T	0.49	-20.3763	11.4081	0.49911	0.0:0.8163:0.1837:0.0	.	281	A7MBM2	DISP2_HUMAN	T	281	ENSP00000267889:P281T	ENSP00000267889:P281T	P	+	1	0	DISP2	38444761	0.985000	0.35326	1.000000	0.80357	0.987000	0.75469	1.664000	0.37439	1.135000	0.42183	0.563000	0.77884	CCC		0.607	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		4	27	1	0	0.000602214	0.000602	0.000676645	4	27				
KNSTRN	90417	broad.mit.edu	37	15	40675063	40675063	+	Silent	SNP	G	G	T	rs558680125		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:40675063G>T	ENST00000249776.8	+	1	142	c.27G>T	c.(25-27)ctG>ctT	p.L9L	KNSTRN_ENST00000448395.2_Silent_p.L9L|KNSTRN_ENST00000416151.2_Silent_p.L9L|KNSTRN_ENST00000608100.1_5'Flank	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		CCCCGCCCCTGGACAGAGTTT	0.592																																							uc001zll.2		NA																	0				ovary(1)|skin(1)	2						c.(25-27)CTG>CTT		TRAF4 associated factor 1 isoform a							23.0	27.0	25.0					15																	40675063		1878	4097	5975	SO:0001819	synonymous_variant	90417					nucleus	protein binding	g.chr15:40675063G>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.27G>T	15.37:g.40675063G>T						C15orf23_uc010ucp.1_Silent_p.L9L|C15orf23_uc001zlo.2_Silent_p.L9L|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.L9L	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	1	142	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	9						Silent	SNP	ENST00000249776.8	37	c.27G>T	CCDS42021.1																																																																																				0.592	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		6	7	1	0	8.12818e-05	0.001984	9.60912e-05	6	7				
RPAP1	26015	broad.mit.edu	37	15	41829177	41829177	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:41829177C>G	ENST00000304330.4	-	2	263	c.147G>C	c.(145-147)ccG>ccC	p.P49P	RPAP1_ENST00000561603.1_Silent_p.P49P	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	49						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGTCCTGGAGCGGAGGCCGGT	0.582																																							uc001zod.2		NA																	0				large_intestine(1)	1						c.(145-147)CCG>CCC		RNA polymerase II associated protein 1							172.0	155.0	161.0					15																	41829177		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41829177C>G	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.147G>C	15.37:g.41829177C>G							p.P49P	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	2	271	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	49					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.147G>C	CCDS10079.1																																																																																				0.582	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		22	101	0	0	0	0.00333	0	22	101				
MGA	23269	broad.mit.edu	37	15	41989078	41989078	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:41989078A>T	ENST00000570161.1	+	2	1870	c.1870A>T	c.(1870-1872)Aag>Tag	p.K624*	MGA_ENST00000389936.4_Nonsense_Mutation_p.K624*|MGA_ENST00000545763.1_Nonsense_Mutation_p.K624*|MGA_ENST00000219905.7_Nonsense_Mutation_p.K624*|MGA_ENST00000566586.1_Nonsense_Mutation_p.K624*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAACTCTGTAAGGCAGGACG	0.443																																							uc001zog.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(1870-1872)AAG>TAG		MAX-interacting protein isoform 2							23.0	21.0	22.0					15																	41989078		1862	4098	5960	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41989078A>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1870A>T	15.37:g.41989078A>T	ENSP00000457035:p.Lys624*					MGA_uc010ucy.1_Nonsense_Mutation_p.K624*|MGA_uc010ucz.1_Nonsense_Mutation_p.K624*	p.K624*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	1961	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	624					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.1870A>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	37	6.263915	0.97426	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.21	5.21	0.72293	.	1.482540	0.03444	N	0.209639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7278	0.51720	0.8526:0.1474:0.0:0.0	.	.	.	.	X	624	.	ENSP00000219905:K624X	K	+	1	0	MGA	39776370	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.965000	0.63708	1.976000	0.57569	0.379000	0.24179	AAG		0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	4	0	0	0	0.001168	0	6	4				
MGA	23269	broad.mit.edu	37	15	41989080	41989080	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:41989080G>A	ENST00000570161.1	+	2	1872	c.1872G>A	c.(1870-1872)aaG>aaA	p.K624K	MGA_ENST00000389936.4_Silent_p.K624K|MGA_ENST00000545763.1_Silent_p.K624K|MGA_ENST00000219905.7_Silent_p.K624K|MGA_ENST00000566586.1_Silent_p.K624K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACTCTGTAAGGCAGGACGAC	0.443																																							uc001zog.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(1870-1872)AAG>AAA		MAX-interacting protein isoform 2							23.0	21.0	22.0					15																	41989080		1864	4100	5964	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41989080G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1872G>A	15.37:g.41989080G>A						MGA_uc010ucy.1_Silent_p.K624K|MGA_uc010ucz.1_Silent_p.K624K	p.K624K	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	1963	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	624					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.1872G>A	CCDS55959.1																																																																																				0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	3	0	0	0	0.001168	0	6	3				
MYO5C	55930	broad.mit.edu	37	15	52562007	52562007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:52562007C>A	ENST00000261839.7	-	8	1044	c.883G>T	c.(883-885)Gag>Tag	p.E295*	MYO5C_ENST00000443683.2_Nonsense_Mutation_p.E238*|MYO5C_ENST00000541028.1_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	295	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCACACCCTCAATGACAGTA	0.388																																							uc010bff.2		NA																	0				ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(883-885)GAG>TAG		myosin VC							215.0	195.0	201.0					15																	52562007		1875	4115	5990	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52562007C>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.883G>T	15.37:g.52562007C>A	ENSP00000261839:p.Glu295*					MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron	p.E295*	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	8	1020	-			295			Myosin head-like.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.883G>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	37	6.421182	0.97555	.	.	ENSG00000128833	ENST00000261839;ENST00000443683	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.4281	0.61037	0.0:0.9286:0.0:0.0714	.	.	.	.	X	295;238	.	ENSP00000261839:E295X	E	-	1	0	MYO5C	50349299	1.000000	0.71417	0.970000	0.41538	0.920000	0.55202	4.862000	0.62976	2.778000	0.95560	0.655000	0.94253	GAG		0.388	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		13	25	1	0	0.00316338	0.003163	0.00344727	13	25				
WDR72	256764	broad.mit.edu	37	15	53998260	53998260	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:53998260A>T	ENST00000396328.1	-	10	1205	c.966T>A	c.(964-966)cgT>cgA	p.R322R	WDR72_ENST00000559418.1_Silent_p.R332R|WDR72_ENST00000360509.5_Silent_p.R322R|WDR72_ENST00000557913.1_Silent_p.R319R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	322										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TAACAAAGGGACGGCTCTGTT	0.383																																							uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(964-966)CGT>CGA		WD repeat domain 72							82.0	83.0	83.0					15																	53998260		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53998260A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.966T>A	15.37:g.53998260A>T						WDR72_uc010bfi.1_Silent_p.R322R	p.R322R	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	10	1008	-			322			WD 4.		Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.966T>A	CCDS10151.1																																																																																				0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		7	12	0	0	0	0.001984	0	7	12				
NEDD4	4734	broad.mit.edu	37	15	56130727	56130727	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:56130727C>T	ENST00000508342.1	-	18	3663	c.3364G>A	c.(3364-3366)Gat>Aat	p.D1122N	NEDD4_ENST00000435532.3_Missense_Mutation_p.D703N|NEDD4_ENST00000338963.2_Missense_Mutation_p.D1050N|NEDD4_ENST00000506154.1_Missense_Mutation_p.D1106N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1122	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.D1050N(1)|p.D703N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGTTCTTCATCTATGATAAAC	0.308																																							uc002adj.2		NA																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)|breast(1)	4						c.(3364-3366)GAT>AAT		neural precursor cell expressed, developmentally							88.0	88.0	88.0					15																	56130727		2192	4290	6482	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56130727C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3364G>A	15.37:g.56130727C>T	ENSP00000424827:p.Asp1122Asn					NEDD4_uc002adl.2_Missense_Mutation_p.D703N|NEDD4_uc002adi.2_Missense_Mutation_p.D1050N|NEDD4_uc010ugj.1_Missense_Mutation_p.D1106N|NEDD4_uc010bfm.2_Missense_Mutation_p.D1105N|NEDD4_uc002adk.2_RNA	p.D1122N	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	18	3664	-			1122			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3364G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.364129	0.95877	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.69	5.69	0.88448	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.78285	2.405	0.80722	D	1	D;P;P;P	0.76494	0.999;0.716;0.697;0.648	D;B;P;B	0.77004	0.989;0.27;0.555;0.419	T	0.77078	-0.2721	10	0.87932	D	0	.	18.7994	0.92010	0.0:1.0:0.0:0.0	.	1106;703;1122;1050	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	N	1122;703;1050;1106	ENSP00000424827:D1122N;ENSP00000410613:D703N;ENSP00000345530:D1050N;ENSP00000422705:D1106N	ENSP00000345530:D1050N	D	-	1	0	NEDD4	53918019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.673000	0.90976	0.650000	0.86243	GAT		0.308	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		9	12	0	0	0	0.006214	0	9	12				
DAPK2	23604	broad.mit.edu	37	15	64204383	64204383	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:64204383T>A	ENST00000457488.1	-	10	902	c.872A>T	c.(871-873)cAg>cTg	p.Q291L	DAPK2_ENST00000261891.3_Missense_Mutation_p.Q291L	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	291	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CATGGCTTGCTGGTTGTCCAC	0.622																																							uc002amr.2		NA																	0				stomach(1)|central_nervous_system(1)	2						c.(871-873)CAG>CTG		death-associated kinase 2							64.0	50.0	55.0					15																	64204383		2203	4300	6503	SO:0001583	missense	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64204383T>A	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.872A>T	15.37:g.64204383T>A	ENSP00000408277:p.Gln291Leu					DAPK2_uc010uim.1_RNA	p.Q291L	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	10	903	-			291			Calmodulin-binding.		E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	37	c.872A>T	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445694	0.43429	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.37752	1.18;1.18	5.15	3.81	0.43845	Protein kinase-like domain (1);	0.255105	0.24256	N	0.040130	T	0.23926	0.0579	L	0.34521	1.04	0.33880	D	0.635992	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.34782	T	0.22	.	6.4278	0.21780	0.0:0.1617:0.0:0.8383	.	291	Q9UIK4	DAPK2_HUMAN	L	291	ENSP00000261891:Q291L;ENSP00000408277:Q291L	ENSP00000261891:Q291L	Q	-	2	0	DAPK2	61991436	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	1.179000	0.31993	1.940000	0.56252	0.496000	0.49642	CAG		0.622	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		4	10	0	0	0	0.009096	0	4	10				
NEO1	4756	broad.mit.edu	37	15	73528767	73528767	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:73528767G>T	ENST00000339362.5	+	9	1818	c.1371G>T	c.(1369-1371)ttG>ttT	p.L457F	NEO1_ENST00000558964.1_Missense_Mutation_p.L457F|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.L457F|NEO1_ENST00000261908.6_Missense_Mutation_p.L457F			Q92859	NEO1_HUMAN	neogenin 1	457	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCATCAAATTGACGTGGCGGA	0.557																																							uc002avm.3		NA																	0				pancreas(1)	1						c.(1369-1371)TTG>TTT		neogenin homolog 1 precursor							215.0	163.0	181.0					15																	73528767		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528767G>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1371G>T	15.37:g.73528767G>T	ENSP00000341198:p.Leu457Phe					NEO1_uc010ukx.1_Missense_Mutation_p.L457F|NEO1_uc010uky.1_Missense_Mutation_p.L457F|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.L122F	p.L457F	NM_002499	NP_002490	Q92859	NEO1_HUMAN			8	1513	+			457			Extracellular (Potential).|Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1371G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082798	0.76528	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.59083	0.29;0.29	6.06	4.2	0.49525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066445	0.64402	D	0.000009	T	0.79986	0.4541	H	0.94423	3.535	0.80722	D	1	D;D;P;D	0.64830	0.971;0.988;0.6;0.994	D;D;D;D	0.70487	0.911;0.969;0.949;0.959	T	0.82554	-0.0399	10	0.87932	D	0	-9.6802	9.6796	0.40061	0.128:0.1169:0.7551:0.0	.	457;457;195;457	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	F	457;195;457	ENSP00000341198:L457F;ENSP00000261908:L457F	ENSP00000261908:L457F	L	+	3	2	NEO1	71315820	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	3.157000	0.50716	0.902000	0.36520	0.655000	0.94253	TTG		0.557	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		50	26	1	0	4.86159e-25	0.00361	9.23431e-25	50	26				
CSPG4	1464	broad.mit.edu	37	15	75982619	75982619	+	Missense_Mutation	SNP	C	C	T	rs141025839	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:75982619C>T	ENST00000308508.5	-	3	879	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	263	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTCTCCACCACGGCCCGCAGG	0.627													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		18668	0.0		0.0	False		,,,				2504	0.0						uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(787-789)GTG>ATG		chondroitin sulfate proteoglycan 4 precursor		C	MET/VAL	8,4386		0,8,2189	50.0	45.0	47.0		787	2.8	0.9	15	dbSNP_134	47	1,8585		0,1,4292	no	missense	CSPG4	NM_001897.4	21	0,9,6481	TT,TC,CC		0.0116,0.1821,0.0693	benign	263/2323	75982619	9,12971	2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982619C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.787G>A	15.37:g.75982619C>T	ENSP00000312506:p.Val263Met						p.V263M	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	880	-			263			Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.787G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	7.911	0.736484	0.15574	0.001821	1.16E-4	ENSG00000173546	ENST00000308508	T	0.78707	-1.2	5.21	2.82	0.32997	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.581714	0.15737	N	0.247120	T	0.61362	0.2341	L	0.34521	1.04	0.23232	N	0.998072	B	0.23377	0.084	B	0.16289	0.015	T	0.45848	-0.9233	10	0.30078	T	0.28	.	4.1225	0.10112	0.1848:0.5136:0.0:0.3016	.	263	Q6UVK1	CSPG4_HUMAN	M	263	ENSP00000312506:V263M	ENSP00000312506:V263M	V	-	1	0	CSPG4	73769674	0.059000	0.20769	0.950000	0.38849	0.648000	0.38561	0.562000	0.23531	1.092000	0.41356	0.555000	0.69702	GTG		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		23	16	0	0	0	0.003954	0	23	16				
IL16	3603	broad.mit.edu	37	15	81561978	81561978	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:81561978G>T	ENST00000302987.4	+	4	664	c.664G>T	c.(664-666)Ggc>Tgc	p.G222C	IL16_ENST00000394660.2_Missense_Mutation_p.G222C			Q14005	IL16_HUMAN	interleukin 16	222	Interaction with GRIN2A.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTGATGAAGGGCCAGGCTAA	0.592																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(664-666)GGC>TGC		interleukin 16 isoform 2							102.0	104.0	104.0					15																	81561978		1958	4152	6110	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81561978G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.664G>T	15.37:g.81561978G>T	ENSP00000302935:p.Gly222Cys					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.G222C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G264C|IL16_uc002bgg.2_Missense_Mutation_p.G222C	p.G222C	NM_172217	NP_757366	Q14005	IL16_HUMAN			5	1040	+			222			Interaction with GRIN2A.|PDZ 1.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.664G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667974	0.67814	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.46451	0.87;0.87	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.155567	0.30134	N	0.010325	T	0.75817	0.3901	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83471	0.0059	10	0.66056	D	0.02	.	18.4544	0.90714	0.0:0.0:1.0:0.0	.	222;222	Q14005;Q14005-2	IL16_HUMAN;.	C	222;222;54;222	ENSP00000378155:G222C;ENSP00000302935:G222C	ENSP00000302935:G222C	G	+	1	0	IL16	79349033	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.611000	0.74183	2.599000	0.87857	0.561000	0.74099	GGC		0.592	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		54	30	1	0	4.25531e-23	0.00361	8.02889e-23	54	30				
IL16	3603	broad.mit.edu	37	15	81582867	81582867	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:81582867A>T	ENST00000302987.4	+	10	1406	c.1406A>T	c.(1405-1407)cAg>cTg	p.Q469L	IL16_ENST00000394660.2_Missense_Mutation_p.Q469L			Q14005	IL16_HUMAN	interleukin 16	469					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGAGGCATCAGTGGAGTCTG	0.408																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1405-1407)CAG>CTG		interleukin 16 isoform 2							132.0	139.0	137.0					15																	81582867		1902	4128	6030	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81582867A>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1406A>T	15.37:g.81582867A>T	ENSP00000302935:p.Gln469Leu					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.Q469L|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.Q511L|IL16_uc002bgg.2_Missense_Mutation_p.Q469L|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_5'Flank	p.Q469L	NM_172217	NP_757366	Q14005	IL16_HUMAN			11	1782	+			469					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1406A>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911836	0.72983	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.14391	2.51;2.51	4.89	3.74	0.42951	.	0.000000	0.41823	D	0.000812	T	0.28466	0.0704	M	0.65975	2.015	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.59948	0.738;0.866	T	0.01156	-1.1434	10	0.42905	T	0.14	.	10.7494	0.46200	0.6944:0.3056:0.0:0.0	.	469;469	Q14005;Q14005-2	IL16_HUMAN;.	L	469;301;469	ENSP00000378155:Q469L;ENSP00000302935:Q469L	ENSP00000302935:Q469L	Q	+	2	0	IL16	79369922	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.472000	0.60189	0.859000	0.35456	0.533000	0.62120	CAG		0.408	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		18	12	0	0	0	0.010504	0	18	12				
AP3B2	8120	broad.mit.edu	37	15	83349497	83349497	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:83349497A>G	ENST00000261722.3	-	8	989	c.782T>C	c.(781-783)cTa>cCa	p.L261P	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.L261P|AP3B2_ENST00000535348.1_Missense_Mutation_p.L229P	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	261					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTTCTCCTCTAGTAGGGATTC	0.687																																							uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(781-783)CTA>CCA		adaptor-related protein complex 3, beta 2							23.0	25.0	25.0					15																	83349497		1883	4100	5983	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83349497A>G	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.782T>C	15.37:g.83349497A>G	ENSP00000261722:p.Leu261Pro					AP3B2_uc010uoi.1_Missense_Mutation_p.L261P|AP3B2_uc010uoj.1_Missense_Mutation_p.L229P|AP3B2_uc010uog.1_5'Flank	p.L261P	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	959	-			261					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.782T>C	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.838594	0.71373	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.57907	0.38;0.39;0.37	4.6	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.094673	0.48286	D	0.000190	T	0.54951	0.1890	N	0.14661	0.345	0.80722	D	1	D;B;B	0.76494	0.999;0.029;0.029	D;B;B	0.91635	0.999;0.064;0.064	T	0.56798	-0.7919	10	0.34782	T	0.22	-10.1579	14.4298	0.67240	1.0:0.0:0.0:0.0	.	229;261;261	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	P	261;229;261	ENSP00000261722:L261P;ENSP00000438721:L229P;ENSP00000440984:L261P	ENSP00000261722:L261P	L	-	2	0	AP3B2	81146551	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	8.905000	0.92613	2.055000	0.61198	0.533000	0.62120	CTA		0.687	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			5	16	0	0	0	0.001984	0	5	16				
SH3GL3	6457	broad.mit.edu	37	15	84241444	84241444	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:84241444G>C	ENST00000427482.2	+	5	765	c.459G>C	c.(457-459)gaG>gaC	p.E153D	SH3GL3_ENST00000535412.1_Missense_Mutation_p.E153D|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E161D|SH3GL3_ENST00000324537.5_Missense_Mutation_p.E161D	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	153	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ATTTAAAAGAGATCGGGGTAA	0.338																																							uc002bjw.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(457-459)GAG>GAC		SH3-domain GRB2-like 3							59.0	57.0	58.0					15																	84241444		2203	4299	6502	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84241444G>C	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.459G>C	15.37:g.84241444G>C	ENSP00000391372:p.Glu153Asp					SH3GL3_uc010uot.1_Missense_Mutation_p.E153D|SH3GL3_uc002bjx.2_Missense_Mutation_p.E84D|SH3GL3_uc002bju.2_Missense_Mutation_p.E161D|SH3GL3_uc002bjv.2_RNA	p.E153D	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			5	654	+			153			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.459G>C	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316117	0.40996	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.26	4.29	0.51040	BAR (3);	0.102446	0.64402	D	0.000003	T	0.32615	0.0835	L	0.52126	1.63	0.80722	D	1	B;B;B	0.22909	0.033;0.077;0.013	B;B;B	0.30105	0.012;0.111;0.04	T	0.11591	-1.0581	10	0.37606	T	0.19	-16.8746	9.2502	0.37551	0.0797:0.1469:0.7735:0.0	.	153;153;161	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	D	153;153;161;161	ENSP00000391372:E153D;ENSP00000439239:E153D;ENSP00000320092:E161D;ENSP00000397871:E161D	ENSP00000320092:E161D	E	+	3	2	SH3GL3	82032448	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.534000	0.45676	2.613000	0.88420	0.585000	0.79938	GAG		0.338	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		6	12	0	0	0	0.001984	0	6	12				
SH3GL3	6457	broad.mit.edu	37	15	84245427	84245427	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:84245427G>T	ENST00000427482.2	+	6	864	c.558G>T	c.(556-558)gcG>gcT	p.A186A	SH3GL3_ENST00000535412.1_Silent_p.A186A|SH3GL3_ENST00000434347.1_Silent_p.A194A|SH3GL3_ENST00000324537.5_Silent_p.A194A	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	186	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCAGACAAGCGGTAGAAAAAT	0.358																																							uc002bjw.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(556-558)GCG>GCT		SH3-domain GRB2-like 3							59.0	62.0	61.0					15																	84245427		2203	4300	6503	SO:0001819	synonymous_variant	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84245427G>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.558G>T	15.37:g.84245427G>T						SH3GL3_uc010uot.1_Silent_p.A186A|SH3GL3_uc002bjx.2_Silent_p.A117A|SH3GL3_uc002bju.2_Silent_p.A194A|SH3GL3_uc002bjv.2_RNA	p.A186A	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			6	753	+			186			BAR.|Potential.		O43553|O43554	Silent	SNP	ENST00000427482.2	37	c.558G>T	CCDS10325.2																																																																																				0.358	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		9	10	1	0	0.000274275	0.004482	0.000314197	9	10				
ADAMTSL3	57188	broad.mit.edu	37	15	84651720	84651720	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:84651720G>C	ENST00000286744.5	+	21	3564	c.3340G>C	c.(3340-3342)Gat>Cat	p.D1114H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1114H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1114						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGTCAGCGATGATCTTGC	0.512																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3340-3342)GAT>CAT		ADAMTS-like 3 precursor							67.0	65.0	66.0					15																	84651720		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651720G>C	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3340G>C	15.37:g.84651720G>C	ENSP00000286744:p.Asp1114His					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1114H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1114H	p.D1114H	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3564	+			1114					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3340G>C	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780834	0.49891	.	.	ENSG00000156218	ENST00000286744	T	0.70282	-0.47	5.43	4.52	0.55395	.	0.440846	0.16677	N	0.204112	T	0.82167	0.4978	M	0.66939	2.045	0.50813	D	0.99989	D;D	0.71674	0.998;0.998	D;D	0.74674	0.984;0.956	T	0.83146	-0.0106	10	0.87932	D	0	.	14.0162	0.64525	0.0729:0.0:0.9271:0.0	.	1114;1114	P82987-2;P82987	.;ATL3_HUMAN	H	1114	ENSP00000286744:D1114H	ENSP00000286744:D1114H	D	+	1	0	ADAMTSL3	82442724	1.000000	0.71417	0.012000	0.15200	0.332000	0.28634	7.768000	0.85345	1.275000	0.44379	0.557000	0.71058	GAT		0.512	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		12	30	0	0	0	0.010729	0	12	30				
ADAMTS17	170691	broad.mit.edu	37	15	100533317	100533317	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:100533317C>T	ENST00000268070.4	-	20	2990	c.2885G>A	c.(2884-2886)aGa>aAa	p.R962K		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	962	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCCTCGGCTCTCGGCCTCGT	0.612																																							uc002bvv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2884-2886)AGA>AAA		ADAM metallopeptidase with thrombospondin type 1							123.0	99.0	107.0					15																	100533317		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100533317C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2885G>A	15.37:g.100533317C>T	ENSP00000268070:p.Arg962Lys						p.R962K	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	20	2964	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		962			TSP type-1 4.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2885G>A	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	5.200	0.222379	0.09863	.	.	ENSG00000140470	ENST00000268070	T	0.60548	0.18	5.41	-2.58	0.06228	.	0.497453	0.18371	N	0.143260	T	0.28333	0.0700	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27971	-1.0058	10	0.06757	T	0.87	.	13.752	0.62912	0.0:0.8647:0.0:0.1353	.	962	Q8TE56	ATS17_HUMAN	K	962	ENSP00000268070:R962K	ENSP00000268070:R962K	R	-	2	0	ADAMTS17	98350840	0.000000	0.05858	0.001000	0.08648	0.667000	0.39255	-0.286000	0.08399	-0.420000	0.07427	0.655000	0.94253	AGA		0.612	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		13	28	0	0	0	0.001368	0	13	28				
LMF1	64788	broad.mit.edu	37	16	961035	961035	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:961035G>A	ENST00000262301.11	-	4	577	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	LMF1_ENST00000568897.1_5'UTR|LMF1_ENST00000399843.2_Silent_p.L187L|LMF1_ENST00000539379.1_3'UTR|LMF1_ENST00000543238.1_Intron	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	187					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				AGAGGGCACAGGAAGATCCCC	0.552																																							uc002ckj.2		NA																	0					0						c.(559-561)CTG>TTG		lipase maturation factor 1							47.0	54.0	52.0					16																	961035		2003	4147	6150	SO:0001819	synonymous_variant	64788					endoplasmic reticulum membrane|integral to membrane		g.chr16:961035G>A	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.559C>T	16.37:g.961035G>A						LMF1_uc010brh.2_5'UTR|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_5'UTR|LMF1_uc010uuu.1_RNA|LMF1_uc010uuv.1_RNA	p.L187L	NM_022773	NP_073610	Q96S06	LMF1_HUMAN			4	563	-		Hepatocellular(780;0.00308)	187			Cytoplasmic (Potential).		Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Silent	SNP	ENST00000262301.11	37	c.559C>T	CCDS45373.1																																																																																				0.552	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		11	12	0	0	0	0.008291	0	11	12				
IFT140	9742	broad.mit.edu	37	16	1574791	1574791	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:1574791G>A	ENST00000426508.2	-	23	3354	c.2991C>T	c.(2989-2991)gtC>gtT	p.V997V	IFT140_ENST00000361339.5_Silent_p.V191V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	997					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTACCTTCTGGACATTGCCCT	0.637																																							uc002cmb.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2989-2991)GTC>GTT		intraflagellar transport 140							54.0	63.0	60.0					16																	1574791		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1574791G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2991C>T	16.37:g.1574791G>A						IFT140_uc002clz.2_Silent_p.V610V	p.V997V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			23	3353	-		Hepatocellular(780;0.219)	997					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.2991C>T	CCDS10439.1																																																																																				0.637	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		15	44	0	0	0	0.00245	0	15	44				
TRAF7	84231	broad.mit.edu	37	16	2226101	2226102	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:2226101_2226102GG>AT	ENST00000326181.6	+	19	1930_1931	c.1798_1799GG>AT	c.(1798-1800)GGc>ATc	p.G600I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	600					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GGGCCACGTGGGCACCGTGTAT	0.653																																							uc002cow.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1798-1800)GGC>ATC		TNF receptor-associated factor 7																																				SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2226101_2226102GG>AT	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	Exception_encountered	16.37:g.2226101_2226102delinsAT	ENSP00000318944:p.Gly600Ile						p.G600I	NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN			19	1897_1898	+			600			WD 6.		Q9H073	Missense_Mutation	DNP	ENST00000326181.6	37	c.1798_1799GG>AT	CCDS10461.1																																																																																				0.653	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		4	16	0	0	0	0.004672	0	4	16				
CASKIN1	57524	broad.mit.edu	37	16	2239298	2239298	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:2239298T>C	ENST00000343516.6	-	5	519	c.427A>G	c.(427-429)Atg>Gtg	p.M143V		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	143					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TTGTCCACCATGCACGGGTTA	0.697																																							uc010bsg.1		NA																	0				skin(2)	2						c.(427-429)ATG>GTG		CASK interacting protein 1							37.0	50.0	46.0					16																	2239298		2117	4209	6326	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2239298T>C	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.427A>G	16.37:g.2239298T>C	ENSP00000345436:p.Met143Val						p.M143V	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			5	459	-			143			ANK 3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.427A>G	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.353582	0.41700	.	.	ENSG00000167971	ENST00000343516	T	0.63744	-0.06	3.46	2.33	0.28932	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.36110	0.0955	N	0.03177	-0.4	0.32705	N	0.512317	B	0.06786	0.001	B	0.15052	0.012	T	0.35649	-0.9780	9	0.34782	T	0.22	-14.1567	9.0911	0.36612	0.0:0.0:0.1847:0.8153	.	143	Q8WXD9	CSKI1_HUMAN	V	143	ENSP00000345436:M143V	ENSP00000345436:M143V	M	-	1	0	CASKIN1	2179299	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	1.644000	0.37228	0.503000	0.28060	0.459000	0.35465	ATG		0.697	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		7	30	0	0	0	0.00308	0	7	30				
RNPS1	10921	broad.mit.edu	37	16	2314333	2314333	+	Splice_Site	SNP	C	C	A	rs112148202		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:2314333C>A	ENST00000565678.1	-	3	617		c.e3-1		RNPS1_ENST00000301730.8_Splice_Site|RNPS1_ENST00000566397.1_5'Flank|RNPS1_ENST00000320225.5_Splice_Site|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000566458.1_Splice_Site|RNPS1_ENST00000568631.1_Splice_Site|RNPS1_ENST00000397086.2_Splice_Site|RNPS1_ENST00000567147.1_Splice_Site|RNPS1_ENST00000561718.1_Splice_Site			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TGAAGGAGCCCTGGATGGTGA	0.547																																							uc002cpt.2		NA																	0				ovary(1)	1						c.e3-1		RNA-binding protein S1, serine-rich domain							121.0	117.0	118.0					16																	2314333		2198	4300	6498	SO:0001630	splice_region_variant	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2314333C>A	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.72-1G>T	16.37:g.2314333C>A						RNPS1_uc002cpu.2_Splice_Site_p.R24_splice|RNPS1_uc002cpv.2_Splice_Site|RNPS1_uc002cpw.2_Splice_Site_p.R24_splice|RNPS1_uc002cpx.2_Splice_Site_p.M1_splice|RNPS1_uc010uwa.1_Splice_Site	p.R24_splice	NM_080594	NP_542161	Q15287	RNPS1_HUMAN			3	618	-								A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Splice_Site	SNP	ENST00000565678.1	37	c.72_splice	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239459	0.22711	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3031	0.87187	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNPS1	2254334	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.189000	0.77747	2.688000	0.91661	0.551000	0.68910	.		0.547	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594	Intron	38	39	1	0	1.07121e-22	0.006999	1.99677e-22	38	39				
NTN3	4917	broad.mit.edu	37	16	2522510	2522510	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:2522510G>T	ENST00000293973.1	+	1	1011	c.808G>T	c.(808-810)Ggc>Tgc	p.G270C	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	270	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACACACAGGGCCACCTGAT	0.682																																							uc002cqj.2		NA																	0				central_nervous_system(1)	1						c.(808-810)GGC>TGC		netrin 3 precursor							35.0	33.0	34.0					16																	2522510		2196	4291	6487	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522510G>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.808G>T	16.37:g.2522510G>T	ENSP00000293973:p.Gly270Cys					TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank	p.G270C	NM_006181	NP_006172	O00634	NET3_HUMAN			1	1011	+			270			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000293973.1	37	c.808G>T	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006616	0.35415	.	.	ENSG00000162068	ENST00000293973	T	0.65732	-0.17	4.09	3.1	0.35709	EGF-like, laminin (3);	0.310878	0.29233	N	0.012749	T	0.79890	0.4524	M	0.93197	3.39	0.52501	D	0.999958	D	0.69078	0.997	D	0.66847	0.947	T	0.79572	-0.1748	10	0.56958	D	0.05	.	6.7286	0.23371	0.1094:0.1786:0.712:0.0	.	270	O00634	NET3_HUMAN	C	270	ENSP00000293973:G270C	ENSP00000293973:G270C	G	+	1	0	NTN3	2462511	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	2.405000	0.44548	0.889000	0.36185	0.305000	0.20034	GGC		0.682	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		7	32	1	0	5.18039e-06	0.00308	6.58689e-06	7	32				
PRSS21	10942	broad.mit.edu	37	16	2868930	2868930	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:2868930C>T	ENST00000005995.3	+	4	552	c.510C>T	c.(508-510)gaC>gaT	p.D170D	PRSS21_ENST00000455114.1_Silent_p.D168D|PRSS21_ENST00000450020.3_Silent_p.D170D|PRSS21_ENST00000575739.1_3'UTR			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	170	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACCGGACAGACTGCTGGGTGA	0.552																																							uc002crt.2		NA																	0				ovary(1)|skin(1)	2						c.(508-510)GAC>GAT		testisin isoform 1							94.0	82.0	86.0					16																	2868930		2198	4300	6498	SO:0001819	synonymous_variant	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2868930C>T	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.510C>T	16.37:g.2868930C>T						PRSS21_uc002crs.2_Silent_p.D168D|PRSS21_uc002crr.2_Silent_p.D170D	p.D170D	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN			4	616	+			170			Peptidase S1.		Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	c.510C>T	CCDS10478.1																																																																																				0.552	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		4	39	0	0	0	0.009096	0	4	39				
ZSCAN10	84891	broad.mit.edu	37	16	3140594	3140594	+	Missense_Mutation	SNP	C	C	A	rs200881850		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:3140594C>A	ENST00000252463.2	-	5	763	c.676G>T	c.(676-678)Ggg>Tgg	p.G226W	ZSCAN10_ENST00000572548.1_3'UTR|ZSCAN10_ENST00000575108.1_De_novo_Start_OutOfFrame|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G144W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	226					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGCAGCCCCTTTGGGCTCT	0.612																																							uc002ctv.1		NA																	0				ovary(1)	1						c.(676-678)GGG>TGG		zinc finger and SCAN domain containing 10							34.0	37.0	36.0					16																	3140594		2186	4264	6450	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140594C>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.676G>T	16.37:g.3140594C>A	ENSP00000252463:p.Gly226Trp					ZSCAN10_uc002cty.1_Translation_Start_Site|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G144W|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G154W	p.G226W	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	764	-			226					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.676G>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044341	0.36085	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.07327	3.2	5.09	2.04	0.26737	.	0.482941	0.17468	N	0.173173	T	0.07818	0.0196	N	0.08118	0	0.09310	N	0.99999	D;D	0.59767	0.986;0.986	P;P	0.55713	0.782;0.782	T	0.21518	-1.0243	10	0.66056	D	0.02	-5.5543	7.3345	0.26603	0.0:0.7134:0.0:0.2866	.	159;226	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	W	159;226	ENSP00000252463:G226W	ENSP00000252463:G226W	G	-	1	0	ZSCAN10	3080595	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.143000	0.10296	0.555000	0.29079	0.655000	0.94253	GGG		0.612	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		8	52	1	0	3.09899e-07	0.004482	4.18449e-07	8	52				
ZNF213	7760	broad.mit.edu	37	16	3191229	3191229	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:3191229C>T	ENST00000396878.3	+	6	1736	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	ZNF213_ENST00000574902.1_Missense_Mutation_p.R421C|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263C|ZNF213_ENST00000576416.1_Missense_Mutation_p.R421C	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	421					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGACCATCGGCGTGTGCACAC	0.657																																							uc010uws.1		NA																	0					0						c.(1261-1263)CGT>TGT		zinc finger protein 213							40.0	41.0	41.0					16																	3191229		2196	4300	6496	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3191229C>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1261C>T	16.37:g.3191229C>T	ENSP00000380087:p.Arg421Cys					ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.R421C|ZNF213_uc010uwt.1_3'UTR|uc002cuf.1_5'Flank	p.R421C	NM_004220	NP_004211	O14771	ZN213_HUMAN			6	1708	+			421			C2H2-type 4.		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.1261C>T	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565399	0.65651	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.25749	1.78;1.78	5.09	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000621	T	0.45597	0.1350	M	0.76938	2.355	0.47905	D	0.999541	D	0.89917	1.0	D	0.91635	0.999	T	0.42172	-0.9467	10	0.87932	D	0	.	5.3784	0.16178	0.3197:0.5831:0.0:0.0971	.	421	O14771	ZN213_HUMAN	C	421;263	ENSP00000380087:R421C;ENSP00000403892:R263C	ENSP00000380087:R421C	R	+	1	0	ZNF213	3131230	0.001000	0.12720	0.992000	0.48379	0.983000	0.72400	-0.180000	0.09754	1.141000	0.42275	0.462000	0.41574	CGT		0.657	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		7	26	0	0	0	0.00308	0	7	26				
ZNF75A	7627	broad.mit.edu	37	16	3367345	3367345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:3367345G>T	ENST00000574298.1	+	6	840	c.367G>T	c.(367-369)Gga>Tga	p.G123*	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCACAGAGTGGGAAAATGGCA	0.393																																							uc002cut.3		NA																	0				breast(1)	1						c.(367-369)GGA>TGA		zinc finger protein 75a							64.0	62.0	63.0					16																	3367345		2197	4300	6497	SO:0001587	stop_gained	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367345G>T	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.367G>T	16.37:g.3367345G>T	ENSP00000459566:p.Gly123*					ZNF75A_uc002cuv.3_RNA	p.G123*	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	893	+			123					Q0VDI8|Q92669	Nonsense_Mutation	SNP	ENST00000574298.1	37	c.367G>T	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725987	0.69074	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	4.57	0.56435	.	0.308859	0.23642	N	0.046005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.2186	0.73292	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000293995:G123X	G	+	1	0	ZNF75A	3307346	0.953000	0.32496	0.913000	0.36048	0.654000	0.38779	1.606000	0.36826	2.530000	0.85305	0.557000	0.71058	GGA		0.393	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		6	18	1	0	3.59834e-05	0.001168	4.39136e-05	6	18				
USP7	7874	broad.mit.edu	37	16	9009313	9009313	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:9009313C>A	ENST00000344836.4	-	9	1174	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	USP7_ENST00000381886.4_Missense_Mutation_p.G310C|USP7_ENST00000535863.1_Missense_Mutation_p.G227C	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	326	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACCATTTTGCCGCGGAATAAT	0.343																																							uc002czl.2		NA																	0				ovary(3)	3						c.(976-978)GGC>TGC		ubiquitin specific peptidase 7							104.0	101.0	102.0					16																	9009313		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9009313C>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.976G>T	16.37:g.9009313C>A	ENSP00000343535:p.Gly326Cys					USP7_uc010uyk.1_Missense_Mutation_p.G227C|USP7_uc010uyj.1_Missense_Mutation_p.G227C|USP7_uc002czk.2_Missense_Mutation_p.G310C|USP7_uc010uyl.1_RNA	p.G326C	NM_003470	NP_003461	Q93009	UBP7_HUMAN			9	1175	-			326					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.976G>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529539	0.85706	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.10477	2.87;2.87;2.87	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65998	-0.6032	10	0.87932	D	0	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	326;310	Q93009;B7Z815	UBP7_HUMAN;.	C	326;334;227;227;268	ENSP00000343535:G326C;ENSP00000443646:G227C;ENSP00000439272:G268C	ENSP00000343535:G326C	G	-	1	0	USP7	8916814	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.684000	0.84104	2.736000	0.93811	0.655000	0.94253	GGC		0.343	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			14	34	1	0	4.7546e-09	0.004007	6.98602e-09	14	34				
TEKT5	146279	broad.mit.edu	37	16	10788224	10788224	+	Silent	SNP	C	C	T	rs570693012		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:10788224C>T	ENST00000283025.2	-	1	578	c.507G>A	c.(505-507)ttG>ttA	p.L169L	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	169						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGACCGTCTCCAAGTTCTGGT	0.612																																							uc002czz.1		NA																	0				ovary(2)	2						c.(505-507)TTG>TTA		tektin 5							139.0	151.0	147.0					16																	10788224		2197	4300	6497	SO:0001819	synonymous_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788224C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.507G>A	16.37:g.10788224C>T							p.L169L	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	579	-			169			Potential.		A1L3Z3	Silent	SNP	ENST00000283025.2	37	c.507G>A	CCDS10542.1																																																																																				0.612	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		33	154	0	0	0	0.003755	0	33	154				
CLEC16A	23274	broad.mit.edu	37	16	11056400	11056400	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:11056400A>T	ENST00000409790.1	+	3	528	c.298A>T	c.(298-300)Acc>Tcc	p.T100S	CLEC16A_ENST00000409552.3_Missense_Mutation_p.T100S	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGCTGCAGACCTTGAACAT	0.478																																							uc002dao.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(298-300)ACC>TCC		C-type lectin domain family 16, member A							246.0	229.0	235.0					16																	11056400		2098	4235	6333	SO:0001583	missense	23274							g.chr16:11056400A>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.298A>T	16.37:g.11056400A>T	ENSP00000387122:p.Thr100Ser					CLEC16A_uc002dan.3_Missense_Mutation_p.T100S	p.T100S	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			3	528	+			100						Missense_Mutation	SNP	ENST00000409790.1	37	c.298A>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383699	0.61845	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.54675	0.56	4.78	4.78	0.61160	.	0.048187	0.85682	D	0.000000	T	0.48732	0.1516	L	0.56280	1.765	0.80722	D	1	B;B	0.28324	0.207;0.037	B;B	0.33846	0.171;0.022	T	0.51036	-0.8756	10	0.49607	T	0.09	-29.3641	9.2703	0.37668	0.8393:0.0:0.0:0.1607	.	100;100	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	S	100	ENSP00000387122:T100S	ENSP00000386495:T100S	T	+	1	0	CLEC16A	10963901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.126000	0.77201	1.926000	0.55796	0.460000	0.39030	ACC		0.478	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		61	89	0	0	0	0.00361	0	61	89				
ERCC4	2072	broad.mit.edu	37	16	14029051	14029051	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:14029051G>A	ENST00000311895.7	+	8	1271	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	421	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCCCAGCTGAGAGACTATATC	0.413			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc002dce.2		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1261-1263)AGA>AAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							139.0	129.0	132.0					16																	14029051		2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029051G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1262G>A	16.37:g.14029051G>A	ENSP00000310520:p.Arg421Lys					ERCC4_uc010uyz.1_5'UTR	p.R421K	NM_005236	NP_005227	Q92889	XPF_HUMAN			8	1271	+			421					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1262G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324025	0.24080	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60797	0.16	5.77	3.76	0.43208	.	0.227137	0.52532	N	0.000074	T	0.45796	0.1360	L	0.46885	1.475	0.40548	D	0.981097	B	0.02656	0.0	B	0.04013	0.001	T	0.29792	-1.0000	10	0.12430	T	0.62	-11.0375	10.5031	0.44817	0.1552:0.0:0.8448:0.0	.	421	Q92889	XPF_HUMAN	K	421;410	ENSP00000310520:R421K	ENSP00000310520:R421K	R	+	2	0	ERCC4	13936552	1.000000	0.71417	0.519000	0.27824	0.984000	0.73092	2.553000	0.45837	0.724000	0.32296	0.650000	0.86243	AGA		0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		17	46	0	0	0	0.007413	0	17	46				
XYLT1	64131	broad.mit.edu	37	16	17353101	17353102	+	Missense_Mutation	DNP	GG	GG	TT	rs146043560	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:17353101_17353102GG>TT	ENST00000261381.6	-	3	740_741	c.656_657CC>AA	c.(655-657)cCC>cAA	p.P219Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	219					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCTGTCCCCGGGAGGCAGCAC	0.589																																							uc002dfa.2		NA																	0				ovary(4)	4						c.(655-657)CCC>CAA		xylosyltransferase I																																				SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353101_17353102GG>TT	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.656_657delinsTT	16.37:g.17353101_17353102delinsTT	ENSP00000261381:p.Pro219Gln						p.P219Q	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	741_742	-			219			Lumenal (Potential).		Q9H1B6	Missense_Mutation	DNP	ENST00000261381.6	37	c.656_657CC>AA	CCDS10569.1																																																																																				0.589	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		28	132	0	0	0	0.004672	0	28	132				
SMG1	23049	broad.mit.edu	37	16	18853565	18853565	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:18853565C>A	ENST00000446231.2	-	40	6843	c.6431G>T	c.(6430-6432)gGa>gTa	p.G2144V	SMG1_ENST00000389467.3_Missense_Mutation_p.G2144V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2144					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCCATCTGATCCAAGAAAGAG	0.418																																							uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6430-6432)GGA>GTA		PI-3-kinase-related kinase SMG-1							96.0	86.0	89.0					16																	18853565		1870	4094	5964	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18853565C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6431G>T	16.37:g.18853565C>A	ENSP00000402515:p.Gly2144Val					SMG1_uc010bwb.2_Missense_Mutation_p.G2004V|SMG1_uc010bwa.2_Missense_Mutation_p.G875V|SMG1_uc002dfo.3_Missense_Mutation_p.G442V	p.G2144V	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			40	6794	-			2144					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6431G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573641	0.65765	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	D;D	0.82803	-1.65;-1.65	5.43	5.43	0.79202	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	D	0.92368	0.7578	M	0.90542	3.125	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.62014	0.897;0.792	D	0.93490	0.6835	10	0.87932	D	0	.	19.5812	0.95468	0.0:1.0:0.0:0.0	.	2004;2144	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	V	2144	ENSP00000402515:G2144V;ENSP00000374118:G2144V	ENSP00000374118:G2144V	G	-	2	0	SMG1	18761066	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	5.904000	0.69886	2.709000	0.92574	0.491000	0.48974	GGA		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		10	23	1	0	0.000442599	0.006214	0.000502282	10	23				
PDILT	204474	broad.mit.edu	37	16	20380973	20380973	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:20380973A>T	ENST00000302451.4	-	8	1205	c.957T>A	c.(955-957)aaT>aaA	p.N319K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	319					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACACGTCCATTTCTGGGTT	0.473																																							uc002dhc.1		NA																	0				large_intestine(1)	1						c.(955-957)AAT>AAA		protein disulfide isomerase-like, testis							136.0	133.0	134.0					16																	20380973		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20380973A>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.957T>A	16.37:g.20380973A>T	ENSP00000305465:p.Asn319Lys						p.N319K	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			8	1180	-			319					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.957T>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.620091	0.28801	.	.	ENSG00000169340	ENST00000302451	T	0.32272	1.46	4.9	-4.3	0.03710	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.78801	2.425	0.21499	N	0.999662	D	0.89917	1.0	D	0.97110	1.0	T	0.43081	-0.9413	10	0.41790	T	0.15	.	11.8931	0.52641	0.6623:0.0:0.3377:0.0	.	319	Q8N807	PDILT_HUMAN	K	319	ENSP00000305465:N319K	ENSP00000305465:N319K	N	-	3	2	PDILT	20288474	0.007000	0.16637	0.002000	0.10522	0.003000	0.03518	-0.026000	0.12392	-0.968000	0.03578	-1.098000	0.02139	AAT		0.473	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		20	68	0	0	0	0.010504	0	20	68				
ACSM5	54988	broad.mit.edu	37	16	20451195	20451195	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:20451195A>T	ENST00000331849.4	+	13	1757	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	537					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CGGGAACTCCAGGAGCATGTG	0.493																																							uc002dhe.2		NA																	0				ovary(2)	2						c.(1609-1611)CAG>CTG		acyl-CoA synthetase medium-chain family member 5							118.0	107.0	110.0					16																	20451195		2203	4299	6502	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20451195A>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1610A>T	16.37:g.20451195A>T	ENSP00000327916:p.Gln537Leu						p.Q537L	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			13	1757	+			537					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1610A>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447072	0.63178	.	.	ENSG00000183549	ENST00000331849	T	0.57907	0.37	5.01	5.01	0.66863	.	0.000000	0.52532	D	0.000065	T	0.65207	0.2669	L	0.52573	1.65	0.48975	D	0.999736	D	0.76494	0.999	D	0.65773	0.938	T	0.68723	-0.5333	10	0.87932	D	0	-19.8407	13.9985	0.64419	1.0:0.0:0.0:0.0	.	537	Q6NUN0	ACSM5_HUMAN	L	537	ENSP00000327916:Q537L	ENSP00000327916:Q537L	Q	+	2	0	ACSM5	20358696	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.926000	0.70070	2.012000	0.59069	0.533000	0.62120	CAG		0.493	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		18	102	0	0	0	0.00499	0	18	102				
ACSM2A	123876	broad.mit.edu	37	16	20489935	20489935	+	Missense_Mutation	SNP	C	C	A	rs538489825		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:20489935C>A	ENST00000573854.1	+	10	1331	c.1217C>A	c.(1216-1218)aCa>aAa	p.T406K	ACSM2A_ENST00000417235.2_Missense_Mutation_p.T327K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.T178K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.T406K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.T406K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.T406K	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	406					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCCCCGGCACAGAAGGAGAC	0.512																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1216-1218)ACA>AAA		acyl-CoA synthetase medium-chain family member							91.0	78.0	83.0					16																	20489935		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489935C>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1217C>A	16.37:g.20489935C>A	ENSP00000459451:p.Thr406Lys					ACSM2A_uc010vax.1_Missense_Mutation_p.T327K|ACSM2A_uc002dhf.3_Missense_Mutation_p.T406K|ACSM2A_uc002dhg.3_Missense_Mutation_p.T406K|ACSM2A_uc010vay.1_Missense_Mutation_p.T327K|ACSM2A_uc002dhh.3_Missense_Mutation_p.T36K	p.T406K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			11	1456	+			406					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1217C>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.828303	0.00070	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	3.33	-4.55	0.03441	AMP-dependent synthetase/ligase (1);	1.058890	0.07475	N	0.902896	T	0.22742	0.0549	N	0.25060	0.705	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.001;0.004	T	0.27971	-1.0058	10	0.17832	T	0.49	1.3482	7.0178	0.24897	0.377:0.4972:0.0:0.1259	.	327;406	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	K	327;406;178;406	ENSP00000392169:T327K;ENSP00000219054:T406K;ENSP00000445082:T178K;ENSP00000379411:T406K	ENSP00000219054:T406K	T	+	2	0	ACSM2A	20397436	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.389000	0.07342	-0.384000	0.07845	-1.082000	0.02213	ACA		0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		13	48	1	0	2.62699e-14	0.003163	4.48832e-14	13	48				
DNAH3	55567	broad.mit.edu	37	16	20996803	20996803	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:20996803G>A	ENST00000261383.3	-	48	7260	c.7261C>T	c.(7261-7263)Cgt>Tgt	p.R2421C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2421	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCAGGACACGGCAGATCCTA	0.552																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7261-7263)CGT>TGT		dynein, axonemal, heavy chain 3							83.0	71.0	75.0					16																	20996803		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996803G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7261C>T	16.37:g.20996803G>A	ENSP00000261383:p.Arg2421Cys					DNAH3_uc010vbd.1_5'Flank	p.R2421C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7261	-			2421			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7261C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425861	0.62733	.	.	ENSG00000158486	ENST00000261383	T	0.57595	0.39	5.43	-0.228	0.13098	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	D	0.83686	0.5308	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91010	0.4849	10	0.87932	D	0	.	17.8028	0.88592	0.0:0.0:0.6061:0.3939	.	2421	Q8TD57	DYH3_HUMAN	C	2421	ENSP00000261383:R2421C	ENSP00000261383:R2421C	R	-	1	0	DNAH3	20904304	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	0.861000	0.27885	0.029000	0.15352	-0.274000	0.10170	CGT		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		10	25	0	0	0	0.008291	0	10	25				
USP31	57478	broad.mit.edu	37	16	23101980	23101980	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:23101980C>T	ENST00000219689.7	-	7	1379	c.1380G>A	c.(1378-1380)gtG>gtA	p.V460V		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTCGGTTACACACCAACAGGA	0.438																																							uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(1378-1380)GTG>GTA		ubiquitin specific peptidase 31							122.0	99.0	107.0					16																	23101980		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23101980C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1380G>A	16.37:g.23101980C>T							p.V460V	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	7	1380	-			460					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.1380G>A	CCDS10607.1																																																																																				0.438	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		7	36	0	0	0	0.00308	0	7	36				
KIAA0556	23247	broad.mit.edu	37	16	27709764	27709764	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:27709764A>G	ENST00000261588.4	+	9	1075	c.1056A>G	c.(1054-1056)gcA>gcG	p.A352A	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	352						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAGAACGCAGCCCTGCAGA	0.642																																							uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1054-1056)GCA>GCG		hypothetical protein LOC23247							40.0	41.0	40.0					16																	27709764		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27709764A>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1056A>G	16.37:g.27709764A>G						KIAA0556_uc002dox.1_Silent_p.A260A	p.A352A	NM_015202	NP_056017	O60303	K0556_HUMAN			9	1080	+			352					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.1056A>G	CCDS32415.1																																																																																				0.642	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		12	30	0	0	0	0.010729	0	12	30				
SEZ6L2	26470	broad.mit.edu	37	16	29897000	29897000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:29897000C>A	ENST00000308713.5	-	8	1806	c.1279G>T	c.(1279-1281)Gag>Tag	p.E427*	SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000350527.3_Nonsense_Mutation_p.E357*|SEZ6L2_ENST00000537485.1_Nonsense_Mutation_p.E383*|SEZ6L2_ENST00000346932.5_Nonsense_Mutation_p.E313*	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	427	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACCCCGCTCGGGGACATCG	0.587																																							uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(1279-1281)GAG>TAG		seizure related 6 homolog (mouse)-like 2 isoform							74.0	68.0	70.0					16																	29897000		2197	4300	6497	SO:0001587	stop_gained	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29897000C>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1279G>T	16.37:g.29897000C>A	ENSP00000312550:p.Glu427*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Nonsense_Mutation_p.E357*|SEZ6L2_uc002dur.3_Nonsense_Mutation_p.E357*|SEZ6L2_uc002dus.3_Nonsense_Mutation_p.E313*|SEZ6L2_uc010vec.1_Nonsense_Mutation_p.E427*|SEZ6L2_uc010ved.1_Nonsense_Mutation_p.E383*	p.E427*	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			8	1519	-			427			CUB 2.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Nonsense_Mutation	SNP	ENST00000308713.5	37	c.1279G>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	37	6.015279	0.97205	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	.	.	.	5.85	5.85	0.93711	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.1439	0.86761	0.0:1.0:0.0:0.0	.	.	.	.	X	357;427;313;383	.	ENSP00000312550:E427X	E	-	1	0	SEZ6L2	29804501	0.999000	0.42202	0.953000	0.39169	0.981000	0.71138	4.638000	0.61353	2.785000	0.95823	0.645000	0.84053	GAG		0.587	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		18	46	1	0	5.3912e-06	0.006122	6.83959e-06	18	46				
SEZ6L2	26470	broad.mit.edu	37	16	29900017	29900017	+	Silent	SNP	G	G	T	rs545967635		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:29900017G>T	ENST00000308713.5	-	6	1410	c.883C>A	c.(883-885)Cgg>Agg	p.R295R	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Silent_p.R225R|SEZ6L2_ENST00000537485.1_Silent_p.R251R|SEZ6L2_ENST00000346932.5_Silent_p.R181R	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	295	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGCCGGCCGGGGAGGGAAG	0.642																																							uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(883-885)CGG>AGG		seizure related 6 homolog (mouse)-like 2 isoform							37.0	36.0	37.0					16																	29900017		2197	4299	6496	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29900017G>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.883C>A	16.37:g.29900017G>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.R225R|SEZ6L2_uc002dur.3_Silent_p.R225R|SEZ6L2_uc002dus.3_Silent_p.R181R|SEZ6L2_uc010vec.1_Silent_p.R295R|SEZ6L2_uc010ved.1_Silent_p.R251R	p.R295R	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			6	1123	-			295			Sushi 1.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.883C>A	CCDS10659.1																																																																																				0.642	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		5	20	1	0	0.00198382	0.001984	0.00217721	5	20				
PYDC1	260434	broad.mit.edu	37	16	31230632	31230632	+	5'Flank	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:31230632G>T	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.G170V|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CAGTTCCGGGGGGCCGTGGGG	0.657																																							uc002ebn.1		NA																	0					0						c.(508-510)GGG>GTG		tripartite motif-containing 72							48.0	53.0	51.0					16																	31230632		2197	4300	6497	SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230632G>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230632G>T	Exception_encountered					PYDC1_uc002ebo.2_5'Flank	p.G170V	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			4	738	+			170					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.509G>T	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	5.803	0.332372	0.10956	.	.	ENSG00000177238	ENST00000322122	T	0.63096	-0.02	5.37	-0.21	0.13176	.	0.603400	0.15909	N	0.238691	T	0.42177	0.1191	L	0.34521	1.04	0.29600	N	0.847748	P	0.35383	0.498	B	0.30572	0.117	T	0.30001	-0.9993	10	0.35671	T	0.21	.	6.5201	0.22271	0.2063:0.3895:0.4042:0.0	.	170	Q6ZMU5	TRI72_HUMAN	V	170	ENSP00000312675:G170V	ENSP00000312675:G170V	G	+	2	0	TRIM72	31138133	0.470000	0.25854	0.121000	0.21740	0.082000	0.17680	0.395000	0.20850	-0.026000	0.13895	-0.150000	0.13652	GGG		0.657	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		9	61	1	0	4.68919e-08	0.008291	6.60997e-08	9	61				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																							uc002edh.1		NA																	0					0						c.(262-264)AAA>AAC		RecName: Full=Transporter;																																						386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G						SLC6A10P_uc002edi.1_RNA	p.K88N							5	440	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.264A>C																																																																																					0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	20	0	0	0	0.004672	0	3	20				
VPS35	55737	broad.mit.edu	37	16	46705670	46705670	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:46705670C>A	ENST00000299138.7	-	12	1529	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	491					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGCGGCCCACAAGGCTCTGC	0.463																																							uc002eef.3		NA																	0					0						c.(1471-1473)GTG>TTG		vacuolar protein sorting 35							73.0	63.0	67.0					16																	46705670		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46705670C>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1471G>T	16.37:g.46705670C>A	ENSP00000299138:p.Val491Leu					VPS35_uc002eed.2_Missense_Mutation_p.V312L|VPS35_uc002eee.2_Missense_Mutation_p.V452L	p.V491L	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			12	1570	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	491					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.1471G>T	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.887521	0.33348	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.49432	0.78	5.1	5.1	0.69264	.	0.054268	0.64402	D	0.000001	T	0.33469	0.0864	N	0.13327	0.33	0.80722	D	1	B;B	0.15473	0.013;0.006	B;B	0.18561	0.022;0.017	T	0.09885	-1.0654	10	0.19147	T	0.46	-9.2277	18.5121	0.90920	0.0:1.0:0.0:0.0	.	491;356	Q96QK1;F5GYF5	VPS35_HUMAN;.	L	491;356	ENSP00000299138:V491L	ENSP00000299138:V491L	V	-	1	0	VPS35	45263171	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.366000	0.80165	0.491000	0.48974	GTG		0.463	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			9	18	1	0	1.58986e-06	0.008291	2.08065e-06	9	18				
SALL1	6299	broad.mit.edu	37	16	51171213	51171213	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:51171213G>T	ENST00000251020.4	-	3	3818	c.3785C>A	c.(3784-3786)cCa>cAa	p.P1262Q	SALL1_ENST00000541611.1_Missense_Mutation_p.P85Q|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.P1165Q	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1262					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCAGGAATTGGAGGGATGCC	0.587																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(3784-3786)CCA>CAA		sal-like 1 isoform a							83.0	76.0	79.0					16																	51171213		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171213G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3785C>A	16.37:g.51171213G>T	ENSP00000251020:p.Pro1262Gln					SALL1_uc010vgr.1_Missense_Mutation_p.P1165Q|SALL1_uc010cbv.2_Missense_Mutation_p.P114Q	p.P1262Q	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3816	-		all_cancers(37;0.0322)	1262					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3785C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207254	0.58343	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.51574	0.7;0.7;0.7	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	N	0.25890	0.77	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.944	T	0.51988	-0.8635	10	0.26408	T	0.33	.	19.4677	0.94950	0.0:0.0:1.0:0.0	.	1262;85	Q9NSC2;F5H733	SALL1_HUMAN;.	Q	1262;1165;1226;85	ENSP00000251020:P1262Q;ENSP00000407914:P1165Q;ENSP00000442827:P85Q	ENSP00000251020:P1262Q	P	-	2	0	SALL1	49728714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.607000	0.74163	2.603000	0.88011	0.643000	0.83706	CCA		0.587	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		17	28	1	0	9.16793e-09	0.00499	1.32869e-08	17	28				
SALL1	6299	broad.mit.edu	37	16	51171227	51171227	+	Missense_Mutation	SNP	G	G	T	rs145423593	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:51171227G>T	ENST00000251020.4	-	3	3804	c.3771C>A	c.(3769-3771)aaC>aaA	p.N1257K	SALL1_ENST00000541611.1_Missense_Mutation_p.N80K|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.N1160K	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1257					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N1257N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGATGCCACCGTTCTGAATGA	0.577																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(3769-3771)AAC>AAA		sal-like 1 isoform a							86.0	77.0	80.0					16																	51171227		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171227G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3771C>A	16.37:g.51171227G>T	ENSP00000251020:p.Asn1257Lys					SALL1_uc010vgr.1_Missense_Mutation_p.N1160K|SALL1_uc010cbv.2_Missense_Mutation_p.N109K	p.N1257K	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3802	-		all_cancers(37;0.0322)	1257					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3771C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097750	0.37048	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.51325	0.71;0.71;0.71	5.53	-11.1	0.00147	.	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	M	0.68593	2.085	0.41324	D	0.987196	D;D	0.76494	0.999;0.998	P;D	0.64595	0.879;0.927	D	0.84833	0.0803	10	0.56958	D	0.05	.	22.825	0.99976	0.2847:0.0:0.7153:0.0	.	1257;80	Q9NSC2;F5H733	SALL1_HUMAN;.	K	1257;1160;1221;80	ENSP00000251020:N1257K;ENSP00000407914:N1160K;ENSP00000442827:N80K	ENSP00000251020:N1257K	N	-	3	2	SALL1	49728728	0.415000	0.25416	0.254000	0.24359	0.957000	0.61999	-0.118000	0.10692	-2.938000	0.00298	-1.790000	0.00627	AAC		0.577	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		11	27	1	0	3.86212e-05	0.008291	4.67636e-05	11	27				
SALL1	6299	broad.mit.edu	37	16	51171426	51171426	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:51171426G>T	ENST00000251020.4	-	3	3605	c.3572C>A	c.(3571-3573)gCa>gAa	p.A1191E	SALL1_ENST00000541611.1_Missense_Mutation_p.A14E|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.A1094E	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1191					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCCCGTCGTGCAGGGGTGCT	0.547																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(3571-3573)GCA>GAA		sal-like 1 isoform a							33.0	34.0	34.0					16																	51171426		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171426G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3572C>A	16.37:g.51171426G>T	ENSP00000251020:p.Ala1191Glu					SALL1_uc010vgr.1_Missense_Mutation_p.A1094E|SALL1_uc010cbv.2_Missense_Mutation_p.A43E	p.A1191E	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3603	-		all_cancers(37;0.0322)	1191					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3572C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815332	0.70912	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.58797	3.16;3.16;0.31	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.923	T	0.71676	-0.4521	10	0.20046	T	0.44	.	19.4677	0.94950	0.0:0.0:1.0:0.0	.	1191;14	Q9NSC2;F5H733	SALL1_HUMAN;.	E	1191;1094;1155;14	ENSP00000251020:A1191E;ENSP00000407914:A1094E;ENSP00000442827:A14E	ENSP00000251020:A1191E	A	-	2	0	SALL1	49728927	1.000000	0.71417	0.134000	0.22075	0.951000	0.60555	9.859000	0.99545	2.603000	0.88011	0.643000	0.83706	GCA		0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		5	27	1	0	3.59834e-05	0.001168	4.39136e-05	5	27				
SALL1	6299	broad.mit.edu	37	16	51174255	51174255	+	Missense_Mutation	SNP	C	C	A	rs80248061	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:51174255C>A	ENST00000251020.4	-	2	1911	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.E529D	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	626					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCATGCCACTCTCTTCGCTTT	0.652																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(1876-1878)GAG>GAT		sal-like 1 isoform a							34.0	35.0	35.0					16																	51174255		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174255C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1878G>T	16.37:g.51174255C>A	ENSP00000251020:p.Glu626Asp					SALL1_uc010vgr.1_Missense_Mutation_p.E529D|SALL1_uc010cbv.2_Intron	p.E626D	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1909	-		all_cancers(37;0.0322)	626					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1878G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	0.968	-0.701246	0.03255	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07216	3.21;3.21	4.89	-1.29	0.09288	.	0.322090	0.36482	N	0.002572	T	0.06234	0.0161	L	0.47716	1.5	0.36442	D	0.865558	B	0.02656	0.0	B	0.01281	0.0	T	0.40175	-0.9577	10	0.15952	T	0.53	.	7.9761	0.30155	0.0:0.3037:0.497:0.1993	.	626	Q9NSC2	SALL1_HUMAN	D	626;529;590	ENSP00000251020:E626D;ENSP00000407914:E529D	ENSP00000251020:E626D	E	-	3	2	SALL1	49731756	0.062000	0.20869	0.070000	0.20053	0.409000	0.31022	0.158000	0.16422	-0.364000	0.08088	0.557000	0.71058	GAG		0.652	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		6	33	1	0	0.00116845	0.001168	0.00129404	6	33				
MMP2	4313	broad.mit.edu	37	16	55525805	55525805	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:55525805T>A	ENST00000219070.4	+	8	1782	c.1273T>A	c.(1273-1275)Tac>Aac	p.Y425N	MMP2_ENST00000570308.1_Missense_Mutation_p.Y349N|MMP2_ENST00000437642.2_Missense_Mutation_p.Y375N|MMP2_ENST00000543485.1_Missense_Mutation_p.Y349N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	425	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GGCACCCATTTACACCTACAC	0.612																																							uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1273-1275)TAC>AAC		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						58.0	58.0	58.0					16																	55525805		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55525805T>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1273T>A	16.37:g.55525805T>A	ENSP00000219070:p.Tyr425Asn					MMP2_uc010vhd.1_Missense_Mutation_p.Y349N|MMP2_uc010ccc.2_Missense_Mutation_p.Y375N|MMP2_uc002eia.3_5'Flank	p.Y425N	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	8	1584	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	425			Required for inhibitor TIMP2 binding.|Collagenase-like 2.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1273T>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633606	0.87660	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.26518	1.73;1.73;1.73	5.23	5.23	0.72850	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57093	-0.7870	10	0.87932	D	0	.	15.1295	0.72511	0.0:0.0:0.0:1.0	.	375;425	E9PE45;P08253	.;MMP2_HUMAN	N	425;349;375	ENSP00000219070:Y425N;ENSP00000444143:Y349N;ENSP00000394237:Y375N	ENSP00000219070:Y425N	Y	+	1	0	MMP2	54083306	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	1.978000	0.57642	0.383000	0.25322	TAC		0.612	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			14	54	0	0	0	0.003163	0	14	54				
MMP2	4313	broad.mit.edu	37	16	55532201	55532201	+	Splice_Site	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:55532201G>C	ENST00000219070.4	+	11	2119	c.1610G>C	c.(1609-1611)gGg>gCg	p.G537A	MMP2_ENST00000570308.1_Splice_Site_p.G461A|MMP2_ENST00000437642.2_Splice_Site_p.G487A|MMP2_ENST00000543485.1_Splice_Site_p.G461A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	537	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TCCACCCCAGGGAATGAATAC	0.612																																							uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1609-1611)GGG>GCG		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						87.0	73.0	78.0					16																	55532201		2198	4300	6498	SO:0001630	splice_region_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55532201G>C		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1610-1G>C	16.37:g.55532201G>C						MMP2_uc010vhd.1_Missense_Mutation_p.G461A|MMP2_uc010ccc.2_Missense_Mutation_p.G487A|MMP2_uc002eia.3_Missense_Mutation_p.G34A	p.G537A	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	11	1921	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	537			Required for inhibitor TIMP2 binding.|Hemopexin-like 2.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1610G>C	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969051	0.74131	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.10005	2.92;2.92;2.92	6.07	5.11	0.69529	Hemopexin/matrixin (2);	0.046390	0.85682	D	0.000000	T	0.39655	0.1086	M	0.92268	3.29	0.80722	D	1	D;P	0.64830	0.994;0.883	P;B	0.61132	0.884;0.424	T	0.54463	-0.8290	9	.	.	.	.	15.2543	0.73573	0.067:0.0:0.933:0.0	.	487;537	E9PE45;P08253	.;MMP2_HUMAN	A	537;461;487	ENSP00000219070:G537A;ENSP00000444143:G461A;ENSP00000394237:G487A	.	G	+	2	0	MMP2	54089702	1.000000	0.71417	0.960000	0.40013	0.656000	0.38851	7.793000	0.85851	1.567000	0.49668	0.655000	0.94253	GGG		0.612	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		Missense_Mutation	12	32	0	0	0	0.00245	0	12	32				
NLRC5	84166	broad.mit.edu	37	16	57060697	57060697	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:57060697G>T	ENST00000262510.6	+	6	2067	c.1842G>T	c.(1840-1842)gaG>gaT	p.E614D	NLRC5_ENST00000539144.1_Missense_Mutation_p.E614D|NLRC5_ENST00000436936.1_Missense_Mutation_p.E614D|NLRC5_ENST00000308149.7_Missense_Mutation_p.E614D	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	614					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGTTGTAGAGCTGTGTCACT	0.572																																							uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(1840-1842)GAG>GAT		nucleotide-binding oligomerization domains 27							104.0	78.0	87.0					16																	57060697		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060697G>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1842G>T	16.37:g.57060697G>T	ENSP00000262510:p.Glu614Asp					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.E419D|NLRC5_uc002ekl.2_Missense_Mutation_p.E419D|NLRC5_uc002ekm.2_Missense_Mutation_p.E419D|NLRC5_uc010ccr.1_RNA	p.E614D	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	2067	+		all_neural(199;0.225)	614			LRR 1.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1842G>T	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.62|14.62	2.590024|2.590024	0.46214|0.46214	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|D;D;D;D;D	.|0.83992	.|-1.79;-1.79;-1.79;-1.79;-1.79	5.42|5.42	0.604|0.604	0.17547|0.17547	.|.	.|0.246358	.|0.21114	.|N	.|0.079924	D|D	0.86451|0.86451	0.5936|0.5936	M|M	0.74258|0.74258	2.255|2.255	0.24673|0.24673	N|N	0.993401|0.993401	.|D;D;P;B	.|0.71674	.|0.998;0.998;0.809;0.205	.|D;D;P;B	.|0.66196	.|0.942;0.942;0.615;0.168	T|T	0.75345|0.75345	-0.3350|-0.3350	5|10	.|0.36615	.|T	.|0.2	.|.	5.9115|5.9115	0.19031|0.19031	0.3056:0.0:0.5638:0.1306|0.3056:0.0:0.5638:0.1306	.|.	.|614;614;614;614	.|Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	S|D	367|614;614;614;88;614;121	.|ENSP00000262510:E614D;ENSP00000308886:E614D;ENSP00000389739:E614D;ENSP00000441727:E614D;ENSP00000441597:E121D	.|ENSP00000262510:E614D	A|E	+|+	1|3	0|2	NLRC5|NLRC5	55618198|55618198	0.988000|0.988000	0.35896|0.35896	0.155000|0.155000	0.22561|0.22561	0.332000|0.332000	0.28634|0.28634	0.116000|0.116000	0.15561|0.15561	0.258000|0.258000	0.21686|0.21686	0.561000|0.561000	0.74099|0.74099	GCT|GAG		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		23	29	1	0	3.62473e-10	0.012319	5.51167e-10	23	29				
CCL17	6361	broad.mit.edu	37	16	57449018	57449018	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:57449018G>T	ENST00000219244.4	+	3	225	c.96G>T	c.(94-96)gaG>gaT	p.E32D		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	32					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						TGGGCCGGGAGTGCTGCCTGG	0.607																																							uc002elj.1		NA																	0				ovary(1)	1						c.(94-96)GAG>GAT		small inducible cytokine A17 precursor							110.0	107.0	108.0					16																	57449018		2198	4300	6498	SO:0001583	missense	6361				cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity	g.chr16:57449018G>T	D43767	CCDS10780.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102970	ENSG00000102970		"""Chemokine ligands"", ""Endogenous ligands"""	10615	protein-coding gene	gene with protein product		601520	"""small inducible cytokine subfamily A (Cys-Cys), member 17"""	SCYA17		8702936, 9070951	Standard	NM_002987		Approved	TARC, ABCD-2	uc002elj.1	Q92583	OTTHUMG00000133468	ENST00000219244.4:c.96G>T	16.37:g.57449018G>T	ENSP00000219244:p.Glu32Asp					CCL17_uc010ccz.1_Missense_Mutation_p.E61D	p.E32D	NM_002987	NP_002978	Q92583	CCL17_HUMAN			3	225	+			32					A0N0Q9|Q2M287	Missense_Mutation	SNP	ENST00000219244.4	37	c.96G>T	CCDS10780.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492340	0.44352	.	.	ENSG00000102970	ENST00000219244	T	0.03524	3.9	5.06	2.92	0.33932	Chemokine interleukin-8-like domain (3);	0.523595	0.20850	N	0.084547	T	0.02012	0.0063	.	.	.	0.37705	D	0.924354	B	0.28667	0.219	B	0.30251	0.113	T	0.50499	-0.8821	9	0.12103	T	0.63	-54.0313	4.8823	0.13686	0.1088:0.0:0.664:0.2272	.	32	Q92583	CCL17_HUMAN	D	32	ENSP00000219244:E32D	ENSP00000219244:E32D	E	+	3	2	CCL17	56006519	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.267000	0.33050	2.360000	0.80028	0.561000	0.74099	GAG		0.607	CCL17-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257344.1	NM_002987		19	86	1	0	3.32936e-07	0.006122	4.48132e-07	19	86				
COQ9	57017	broad.mit.edu	37	16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592																																							uc002elq.2		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	breast(1)	1						c.(334-336)CCC>TCC		coenzyme Q9 homolog precursor							107.0	93.0	98.0					16																	57486804		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486804C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.334C>T	16.37:g.57486804C>T	ENSP00000262507:p.Pro112Ser					COQ9_uc002elp.1_Missense_Mutation_p.P112S|COQ9_uc010vhn.1_Missense_Mutation_p.P112S|COQ9_uc010vho.1_Missense_Mutation_p.P112S|COQ9_uc010vhp.1_Missense_Mutation_p.P112S|COQ9_uc002elr.2_Missense_Mutation_p.P112S	p.P112S	NM_020312	NP_064708	O75208	COQ9_HUMAN			3	350	+			112					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.334C>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697474	0.88830	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.69185	2.1	0.58432	D	0.999995	D;P;D;P;D	0.89917	1.0;0.811;1.0;0.816;1.0	D;P;D;B;D	0.97110	0.999;0.554;0.999;0.288;1.0	T	0.79902	-0.1607	9	0.59425	D	0.04	-10.8459	17.3209	0.87235	0.0:1.0:0.0:0.0	.	112;112;112;112;112	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	112	.	ENSP00000262507:P112S	P	+	1	0	COQ9	56044305	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.783000	0.85696	2.325000	0.78763	0.650000	0.86243	CCC		0.592	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		4	87	0	0	0	0.000602	0	4	87				
GPR114	221188	broad.mit.edu	37	16	57600520	57600520	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:57600520A>T	ENST00000340339.4	+	7	1079	c.556A>T	c.(556-558)Acc>Tcc	p.T186S	GPR114_ENST00000349457.3_Missense_Mutation_p.T186S|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	186	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGAAGGCTACACCCTGACCTG	0.617																																							uc002elx.3		NA																	0				central_nervous_system(1)	1						c.(556-558)ACC>TCC		G protein-coupled receptor 114 precursor							79.0	82.0	81.0					16																	57600520		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57600520A>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.556A>T	16.37:g.57600520A>T	ENSP00000342981:p.Thr186Ser					GPR114_uc010vhr.1_Missense_Mutation_p.T186S|GPR114_uc002ely.2_Missense_Mutation_p.T186S	p.T186S	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			7	641	+			186			Extracellular (Potential).|GPS.		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.556A>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	A	4.783	0.145555	0.09134	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.67865	-0.29;-0.29	4.3	3.22	0.36961	GPS domain (3);	1.553110	0.03974	N	0.292177	T	0.54759	0.1878	L	0.32530	0.975	0.09310	N	1	B;B	0.29341	0.242;0.051	B;B	0.29353	0.101;0.027	T	0.49254	-0.8959	10	0.41790	T	0.15	.	3.2996	0.06978	0.6882:0.0:0.1083:0.2035	.	186;186	B4E148;Q8IZF4	.;GP114_HUMAN	S	186	ENSP00000342981:T186S;ENSP00000290823:T186S	ENSP00000342981:T186S	T	+	1	0	GPR114	56158021	0.000000	0.05858	0.094000	0.20943	0.009000	0.06853	0.231000	0.17872	1.951000	0.56629	0.392000	0.25879	ACC		0.617	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		24	46	0	0	0	0.00278	0	24	46				
CDH5	1003	broad.mit.edu	37	16	66436744	66436744	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:66436744C>A	ENST00000341529.3	+	12	2175	c.2027C>A	c.(2026-2028)cCc>cAc	p.P676H	CDH5_ENST00000539168.1_Missense_Mutation_p.P115H	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	676					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	cccccgcggcccgcgcTGGAC	0.721																																							uc002eom.3		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(2026-2028)CCC>CAC		cadherin 5, type 2 preproprotein							11.0	16.0	14.0					16																	66436744		2166	4151	6317	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436744C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2027C>A	16.37:g.66436744C>A	ENSP00000344115:p.Pro676His						p.P676H	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2183	+		Ovarian(137;0.0955)	676			Cytoplasmic (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.2027C>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980459	0.34942	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.76839	-1.05;-1.05	4.73	2.77	0.32553	Cadherin, cytoplasmic domain (1);	.	.	.	.	T	0.71913	0.3396	M	0.64404	1.975	0.09310	N	1	B	0.21225	0.053	B	0.27887	0.084	T	0.61387	-0.7073	9	0.40728	T	0.16	.	4.3911	0.11341	0.1779:0.629:0.0:0.193	.	676	P33151	CADH5_HUMAN	H	676;561;417;115	ENSP00000344115:P676H;ENSP00000461880:P115H	ENSP00000344115:P676H	P	+	2	0	CDH5	64994245	0.005000	0.15991	0.000000	0.03702	0.417000	0.31264	2.119000	0.41958	0.448000	0.26722	0.456000	0.33151	CCC		0.721	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		8	8	1	0	0.000274275	0.004482	0.000314197	8	8				
CDH16	1014	broad.mit.edu	37	16	66949151	66949151	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:66949151C>G	ENST00000299752.4	-	6	748	c.555G>C	c.(553-555)cgG>cgC	p.R185R	CDH16_ENST00000568632.1_Intron|CDH16_ENST00000565796.1_Silent_p.R185R|CDH16_ENST00000570262.1_Silent_p.R105R|CDH16_ENST00000394055.3_Silent_p.R185R	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAGCCCCCAGCCGAGGCTCCA	0.627																																							uc002eql.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(553-555)CGG>CGC		cadherin 16 precursor							35.0	39.0	37.0					16																	66949151		2199	4299	6498	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66949151C>G	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.555G>C	16.37:g.66949151C>G						CDH16_uc010cdy.2_Silent_p.R185R|CDH16_uc002eqm.2_Intron	p.R185R	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	6	628	-		Ovarian(137;0.0563)	185			Extracellular (Potential).|Cadherin 2.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.555G>C	CCDS10823.1																																																																																				0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		11	41	0	0	0	0.008291	0	11	41				
SLC9A5	6553	broad.mit.edu	37	16	67290373	67290373	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:67290373G>T	ENST00000299798.11	+	6	978	c.913G>T	c.(913-915)Gtg>Ttg	p.V305L	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	305					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTCTCCCAGGGTGACCATGTG	0.547																																							uc002esm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(913-915)GTG>TTG		solute carrier family 9 (sodium/hydrogen							78.0	76.0	77.0					16																	67290373		2002	4167	6169	SO:0001630	splice_region_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290373G>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.912-1G>T	16.37:g.67290373G>T						SLC9A5_uc010cee.2_Missense_Mutation_p.V10L|SLC9A5_uc010vji.1_5'UTR	p.V305L	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	6	976	+		Ovarian(137;0.0563)	305					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.913G>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808291	0.31961	.	.	ENSG00000135740	ENST00000299798	T	0.17370	2.28	5.68	5.68	0.88126	Cation/H+ exchanger (1);	0.056398	0.64402	D	0.000001	T	0.12689	0.0308	N	0.11698	0.16	0.43896	D	0.99652	B	0.12630	0.006	B	0.17722	0.019	T	0.14090	-1.0485	10	0.32370	T	0.25	.	19.1472	0.93473	0.0:0.0:1.0:0.0	.	305	Q14940	SL9A5_HUMAN	L	305	ENSP00000299798:V305L	ENSP00000299798:V305L	V	+	1	0	SLC9A5	65847874	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	4.308000	0.59129	2.847000	0.97988	0.591000	0.81541	GTG		0.547	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1		Missense_Mutation	12	23	1	0	2.68362e-12	0.001368	4.34905e-12	12	23				
NFATC3	4775	broad.mit.edu	37	16	68156795	68156795	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:68156795C>T	ENST00000346183.3	+	2	1033	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	NFATC3_ENST00000329524.4_Missense_Mutation_p.P337S|NFATC3_ENST00000349223.5_Missense_Mutation_p.P337S|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.P337S|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	337					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GACTGACATCCCTCTCAAAAC	0.473																																							uc002evo.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1009-1011)CCT>TCT		nuclear factor of activated T-cells,							135.0	132.0	133.0					16																	68156795		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156795C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1009C>T	16.37:g.68156795C>T	ENSP00000300659:p.Pro337Ser					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.P337S|NFATC3_uc002evm.1_Missense_Mutation_p.P337S|NFATC3_uc002evn.1_Missense_Mutation_p.P337S|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.P337S	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	1219	+		Ovarian(137;0.0563)	337					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1009C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193792	0.78902	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.23348	1.91;1.91;1.93	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	T	0.59172	-0.7504	9	.	.	.	-16.6801	19.5178	0.95171	0.0:1.0:0.0:0.0	.	337;337;337;337	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	S	337	ENSP00000264008:P337S;ENSP00000300659:P337S;ENSP00000331324:P337S	.	P	+	1	0	NFATC3	66714296	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.683000	0.91414	0.563000	0.77884	CCT		0.473	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		25	97	0	0	0	0.00333	0	25	97				
WWP2	11060	broad.mit.edu	37	16	69965789	69965789	+	Missense_Mutation	SNP	G	G	T	rs202095634		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:69965789G>T	ENST00000359154.2	+	16	1779	c.1678G>T	c.(1678-1680)Gcc>Tcc	p.A560S	MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.A121S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.A560S|WWP2_ENST00000356003.2_Missense_Mutation_p.A560S|WWP2_ENST00000542271.1_Missense_Mutation_p.A444S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	560	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGGGCATCGCCAGGTGAGC	0.612																																							uc002exu.1		NA																	0				lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(1678-1680)GCC>TCC		WW domain containing E3 ubiquitin protein ligase							69.0	71.0	71.0					16																	69965789		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69965789G>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1678G>T	16.37:g.69965789G>T	ENSP00000352069:p.Ala560Ser					WWP2_uc002exv.1_Missense_Mutation_p.A560S|WWP2_uc010vlm.1_Missense_Mutation_p.A444S|WWP2_uc010vln.1_Missense_Mutation_p.A178S|WWP2_uc002exw.1_Missense_Mutation_p.A121S|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	p.A560S	NM_007014	NP_008945	O00308	WWP2_HUMAN			17	1767	+			560			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.1678G>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365136	0.61513	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.27	5.27	0.74061	HECT (3);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	N	0.21324	0.655	0.80722	D	1	B	0.24768	0.111	B	0.36567	0.228	T	0.61753	-0.6998	9	.	.	.	.	19.2502	0.93921	0.0:0.0:1.0:0.0	.	560	O00308	WWP2_HUMAN	S	560;121;560;560;447;444	ENSP00000352069:A560S;ENSP00000396871:A560S;ENSP00000348283:A560S;ENSP00000445616:A444S	.	A	+	1	0	WWP2	68523290	1.000000	0.71417	0.991000	0.47740	0.595000	0.36748	9.702000	0.98712	2.619000	0.88677	0.561000	0.74099	GCC		0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		19	70	1	0	5.03518e-11	0.007413	7.86025e-11	19	70				
ZFHX3	463	broad.mit.edu	37	16	72993483	72993483	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:72993483C>A	ENST00000268489.5	-	2	1234	c.562G>T	c.(562-564)Gca>Tca	p.A188S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	188					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TACACGGGTGCAGCACACGAA	0.617																																							uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(562-564)GCA>TCA		zinc finger homeobox 3 isoform A							54.0	58.0	57.0					16																	72993483		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993483C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.562G>T	16.37:g.72993483C>A	ENSP00000268489:p.Ala188Ser					ZFHX3_uc002fcl.2_Intron	p.A188S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1235	-		Ovarian(137;0.13)	188					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.562G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895524	0.33442	.	.	ENSG00000140836	ENST00000268489	T	0.72942	-0.7	4.51	4.51	0.55191	.	0.000000	0.49916	D	0.000136	T	0.58366	0.2117	N	0.02539	-0.55	0.80722	D	1	D	0.67145	0.996	P	0.58013	0.831	T	0.59563	-0.7431	10	0.08837	T	0.75	.	17.6085	0.88046	0.0:1.0:0.0:0.0	.	188	Q15911	ZFHX3_HUMAN	S	188	ENSP00000268489:A188S	ENSP00000268489:A188S	A	-	1	0	ZFHX3	71550984	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.813000	0.62620	2.228000	0.72767	0.561000	0.74099	GCA		0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		23	57	1	0	2.89027e-11	0.002299	4.53689e-11	23	57				
GLG1	2734	broad.mit.edu	37	16	74640625	74640625	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:74640625G>C	ENST00000422840.2	-	1	367	c.368C>G	c.(367-369)aCc>aGc	p.T123S	GLG1_ENST00000447066.2_Missense_Mutation_p.T123S|GLG1_ENST00000205061.5_Missense_Mutation_p.T123S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	123					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCACACGCGGGTCACGTCCTC	0.716																																							uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(367-369)ACC>AGC		golgi apparatus protein 1 isoform 3							44.0	46.0	45.0					16																	74640625		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74640625G>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.368C>G	16.37:g.74640625G>C	ENSP00000405984:p.Thr123Ser					GLG1_uc002fcx.2_Missense_Mutation_p.T123S|GLG1_uc002fcw.3_Missense_Mutation_p.T123S|GLG1_uc002fcz.3_5'UTR	p.T123S	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			1	418	-			123			Extracellular (Potential).|Cys-rich GLG1 1.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.368C>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291635	0.23564	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	4.56	3.59	0.41128	.	0.136010	0.49305	D	0.000157	T	0.40398	0.1115	L	0.27053	0.805	0.41637	D	0.989051	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.19778	-1.0295	9	0.09338	T	0.73	-5.5814	12.6327	0.56667	0.0:0.1682:0.8317:0.0	.	123;123;123	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	S	123	.	ENSP00000205061:T123S	T	-	2	0	GLG1	73198126	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.637000	0.54324	1.239000	0.43787	0.448000	0.29417	ACC		0.716	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		10	38	0	0	0	0.010729	0	10	38				
WDR59	79726	broad.mit.edu	37	16	74943460	74943460	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:74943460C>T	ENST00000262144.6	-	16	1711	c.1581G>A	c.(1579-1581)ggG>ggA	p.G527G		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	527										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCTGGTACGACCCGTAAGCCG	0.567																																							uc002fdh.1		NA																	0				ovary(1)|breast(1)	2						c.(1579-1581)GGG>GGA		WD repeat domain 59							84.0	88.0	87.0					16																	74943460		2198	4300	6498	SO:0001819	synonymous_variant	79726							g.chr16:74943460C>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1581G>A	16.37:g.74943460C>T						WDR59_uc002fdi.2_Silent_p.G527G|WDR59_uc002fdg.1_Silent_p.G119G	p.G527G	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			16	1683	-			527					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	c.1581G>A	CCDS32488.1																																																																																				0.567	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		25	65	0	0	0	0.004656	0	25	65				
CLEC3A	10143	broad.mit.edu	37	16	78064496	78064496	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:78064496G>T	ENST00000575655.1	+	3	433	c.352G>T	c.(352-354)Ggt>Tgt	p.G118C	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Missense_Mutation_p.G127C	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	118	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CCAAGACTATGGTAAAAGGAG	0.483																																							uc002ffh.3		NA																	0					0						c.(352-354)GGT>TGT		C-type lectin domain family 3 member A							83.0	72.0	76.0					16																	78064496		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064496G>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.352G>T	16.37:g.78064496G>T	ENSP00000460682:p.Gly118Cys						p.G118C	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	433	+			118			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.352G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.974360	0.74246	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	4.8	0.61643	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.093193	0.64402	D	0.000001	T	0.66567	0.2802	M	0.61703	1.905	0.48571	D	0.999679	D	0.59767	0.986	P	0.56398	0.797	T	0.67898	-0.5551	9	0.46703	T	0.11	-9.3884	12.2314	0.54490	0.1408:0.0:0.8592:0.0	.	118	O75596	CLC3A_HUMAN	C	118	.	ENSP00000299642:G118C	G	+	1	0	CLEC3A	76621997	1.000000	0.71417	0.943000	0.38184	0.993000	0.82548	2.677000	0.46892	1.546000	0.49388	0.650000	0.86243	GGT		0.483	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		6	33	1	0	0.00116845	0.001168	0.00129404	6	33				
PKD1L2	114780	broad.mit.edu	37	16	81161599	81161599	+	RNA	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:81161599G>T	ENST00000534142.1	-	0	504				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGGGCAAGAGCTTTCCTG	0.517																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6115-6117)TCT>TAT		polycystin 1-like 2 isoform a							46.0	45.0	45.0					16																	81161599		1984	4169	6153			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161599G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161599G>T						PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	p.S2039Y	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			37	6116	-			2039			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6116C>A																																																																																					0.517	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			5	11	1	0	0.00116845	0.001168	0.00129404	5	11				
SDR42E1	93517	broad.mit.edu	37	16	82033530	82033530	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:82033530G>A	ENST00000328945.5	-	3	495	c.368C>T	c.(367-369)aCt>aTt	p.T123I	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	123					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACATTGAAAGTGCTGGTGTA	0.488																																							uc002fgu.2		NA																	0					0						c.(367-369)ACT>ATT		short chain dehydrogenase/reductase family 42E,							148.0	147.0	147.0					16																	82033530		1993	4172	6165	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033530G>A	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.368C>T	16.37:g.82033530G>A	ENSP00000332407:p.Thr123Ile						p.T123I	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	496	-			123					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.368C>T	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808893	0.90707	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.91631	-2.88;-2.88	6.03	6.03	0.97812	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97273	0.9912	10	0.87932	D	0	-25.3584	19.545	0.95291	0.0:0.0:1.0:0.0	.	123	Q8WUS8	D42E1_HUMAN	I	123;120	ENSP00000332407:T123I;ENSP00000434529:T120I	ENSP00000332407:T123I	T	-	2	0	SDR42E1	80591031	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	ACT		0.488	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		19	59	0	0	0	0.006122	0	19	59				
ZCCHC14	23174	broad.mit.edu	37	16	87453466	87453466	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:87453466G>A	ENST00000268616.4	-	6	774	c.557C>T	c.(556-558)cCt>cTt	p.P186L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	186							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACGTGAGAAGGTAATGAGGC	0.393																																							uc002fjz.1		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(556-558)CCT>CTT		zinc finger, CCHC domain containing 14							87.0	79.0	82.0					16																	87453466		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87453466G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.557C>T	16.37:g.87453466G>A	ENSP00000268616:p.Pro186Leu					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_5'UTR	p.P186L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	6	584	-			186					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.557C>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170973	0.57584	.	.	ENSG00000140948	ENST00000268616	T	0.74106	-0.81	5.53	5.53	0.82687	Phox homologous domain (2);	0.062794	0.64402	D	0.000004	D	0.84570	0.5501	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85512	0.1198	10	0.87932	D	0	-17.5508	19.4895	0.95044	0.0:0.0:1.0:0.0	.	186	Q8WYQ9	ZCH14_HUMAN	L	186	ENSP00000268616:P186L	ENSP00000268616:P186L	P	-	2	0	ZCCHC14	86010967	1.000000	0.71417	0.912000	0.35992	0.035000	0.12851	7.280000	0.78610	2.596000	0.87737	0.655000	0.94253	CCT		0.393	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		6	46	0	0	0	0.001168	0	6	46				
JPH3	57338	broad.mit.edu	37	16	87678336	87678337	+	Missense_Mutation	DNP	CG	CG	GA	rs112449440		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:87678336_87678337CG>GA	ENST00000284262.2	+	2	1097_1098	c.855_856CG>GA	c.(853-858)acCGag>acGAag	p.E286K		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	286					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.T285T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCACCACCACCGAGACCTACGT	0.673																																							uc002fkd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(853-858)ACCGAG>ACGAAG		junctophilin 3																																				SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678336_87678337CG>GA	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	Exception_encountered	16.37:g.87678336_87678337delinsGA	ENSP00000284262:p.Glu286Lys					JPH3_uc010vou.1_RNA	p.E286K	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1109_1110	+			286			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	DNP	ENST00000284262.2	37	c.855_856CG>GA	CCDS10962.1																																																																																				0.673	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			15	45	0	0	0	0.004672	0	15	45				
ZC3H18	124245	broad.mit.edu	37	16	88695191	88695191	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:88695191G>T	ENST00000301011.5	+	16	2695	c.2495G>T	c.(2494-2496)cGc>cTc	p.R832L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R856L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	832						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCAGGAAGCGCTATGAACCA	0.642																																					Ovarian(121;375 2276 20373 38669)	Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.(2494-2496)CGC>CTC		zinc finger CCCH-type containing 18							112.0	109.0	110.0					16																	88695191		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88695191G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2495G>T	16.37:g.88695191G>T	ENSP00000301011:p.Arg832Leu					ZC3H18_uc010voz.1_Missense_Mutation_p.R856L|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.R102L	p.R832L	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	16	2695	+			832					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.2495G>T	CCDS10967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684547|4.684547	0.88639|0.88639	.|.	.|.	ENSG00000158545|ENSG00000158545	ENST00000289509|ENST00000301011;ENST00000452588	.|T;T	.|0.48522	.|0.81;0.83	5.37|5.37	4.42|4.42	0.53409|0.53409	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.59436|0.59436	1.845|1.845	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.65987	.|0.94;0.94	T|T	0.65331|0.65331	-0.6194|-0.6194	6|10	0.87932|0.59425	D|D	0|0.04	-18.1472|-18.1472	14.0252|14.0252	0.64582|0.64582	0.0727:0.0:0.9272:0.0|0.0727:0.0:0.9272:0.0	.|.	.|856;832	.|E7ERS3;Q86VM9	.|.;ZCH18_HUMAN	S|L	658|832;856	.|ENSP00000301011:R832L;ENSP00000416951:R856L	ENSP00000289509:A658S|ENSP00000301011:R832L	A|R	+|+	1|2	0|0	ZC3H18|ZC3H18	87222692|87222692	1.000000|1.000000	0.71417|0.71417	0.884000|0.884000	0.34674|0.34674	0.842000|0.842000	0.47809|0.47809	8.474000|8.474000	0.90413|0.90413	1.265000|1.265000	0.44215|0.44215	-0.136000|-0.136000	0.14681|0.14681	GCT|CGC		0.642	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		18	131	1	0	6.94344e-10	0.006122	1.04459e-09	18	131				
ANKRD11	29123	broad.mit.edu	37	16	89347829	89347829	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:89347829C>A	ENST00000301030.4	-	9	5581	c.5121G>T	c.(5119-5121)acG>acT	p.T1707T	ANKRD11_ENST00000378330.2_Silent_p.T1707T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1707					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATAGCACCGACGTAGGGGTGG	0.672																																							uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5119-5121)ACG>ACT		ankyrin repeat domain 11							55.0	61.0	59.0					16																	89347829		2198	4298	6496	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89347829C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5121G>T	16.37:g.89347829C>A						ANKRD11_uc002fmy.1_Silent_p.T1707T|ANKRD11_uc002fnc.1_Silent_p.T1707T|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.T1664T	p.T1707T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5582	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1707					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.5121G>T	CCDS32513.1																																																																																				0.672	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		25	80	1	0	5.35356e-11	0.00278	8.33429e-11	25	80				
CPNE7	27132	broad.mit.edu	37	16	89663001	89663001	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:89663001G>T	ENST00000268720.5	+	17	2004	c.1874G>T	c.(1873-1875)gGa>gTa	p.G625V	CPNE7_ENST00000319518.8_Missense_Mutation_p.G550V|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	625					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GTCCCTGCCGGAGAGGCCAGC	0.667																																							uc002fnp.2		NA																	0					0						c.(1873-1875)GGA>GTA		copine 7 isoform b							42.0	43.0	43.0					16																	89663001		2197	4298	6495	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89663001G>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1874G>T	16.37:g.89663001G>T	ENSP00000268720:p.Gly625Val					CPNE7_uc002fnq.2_Missense_Mutation_p.G550V	p.G625V	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	17	2004	+		all_hematologic(23;0.0748)	625						Missense_Mutation	SNP	ENST00000268720.5	37	c.1874G>T	CCDS10980.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.239|9.239	1.037865|1.037865	0.19669|0.19669	.|.	.|.	ENSG00000178773|ENSG00000178773	ENST00000526232|ENST00000319518;ENST00000268720	.|T;T	.|0.13538	.|2.6;2.58	3.72|3.72	-7.44|-7.44	0.01379|0.01379	.|.	.|1.926440	.|0.04163	.|N	.|0.323425	.|T	.|0.08714	.|0.0216	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999993|0.999993	.|P;B	.|0.36909	.|0.573;0.084	.|B;B	.|0.32465	.|0.146;0.084	.|T	.|0.25710	.|-1.0124	.|10	.|0.26408	.|T	.|0.33	-9.7572|-9.7572	9.68|9.68	0.40065|0.40065	0.206:0.6293:0.1647:0.0|0.206:0.6293:0.1647:0.0	.|.	.|550;625	.|Q9UBL6-2;Q9UBL6	.|.;CPNE7_HUMAN	X|V	78|550;625	.|ENSP00000317374:G550V;ENSP00000268720:G625V	.|ENSP00000268720:G625V	E|G	+|+	1|2	0|0	CPNE7|CPNE7	88190502|88190502	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.956000|-0.956000	0.03865|0.03865	-1.006000|-1.006000	0.03412|0.03412	-0.270000|-0.270000	0.10280|0.10280	GAG|GGA		0.667	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			4	41	1	0	0.000602214	0.000602	0.000676645	4	41				
MYO1C	4641	broad.mit.edu	37	17	1371772	1371772	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:1371772C>A	ENST00000575158.1	-	26	2700	c.2524G>T	c.(2524-2526)Gct>Tct	p.A842S	MYO1C_ENST00000438665.2_Missense_Mutation_p.A858S|MYO1C_ENST00000359786.5_Missense_Mutation_p.A877S|MYO1C_ENST00000545534.2_Missense_Mutation_p.A853S|MYO1C_ENST00000361007.2_Missense_Mutation_p.A842S			Q12965	MYO1E_HUMAN	myosin IC	722	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCTCACTAGCCACGGCCTTC	0.582																																							uc002fsp.2		NA																	0					0						c.(2629-2631)GCT>TCT		myosin IC isoform a							114.0	99.0	104.0					17																	1371772		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1371772C>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2524G>T	17.37:g.1371772C>A	ENSP00000459174:p.Ala842Ser					MYO1C_uc002fsn.2_Missense_Mutation_p.A858S|MYO1C_uc002fso.2_Missense_Mutation_p.A842S|MYO1C_uc010vqj.1_Missense_Mutation_p.A842S	p.A877S	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	26	2849	-			877					Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.2629G>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421764	0.96111	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.97	5.97	0.96955	Myosin tail 2 (1);	0.048045	0.85682	D	0.000000	T	0.72070	0.3415	M	0.73962	2.25	0.80722	D	1	D;D	0.60160	0.976;0.987	P;P	0.62491	0.859;0.903	T	0.72171	-0.4371	10	0.56958	D	0.05	.	19.4162	0.94700	0.0:1.0:0.0:0.0	.	877;858	O00159;O00159-3	MYO1C_HUMAN;.	S	877;858;858;842;853	ENSP00000352834:A877S;ENSP00000412197:A858S;ENSP00000354283:A842S;ENSP00000437685:A853S	ENSP00000352834:A877S	A	-	1	0	MYO1C	1318522	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	GCT		0.582	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			11	29	1	0	1.58986e-06	0.008291	2.08065e-06	11	29				
ALOX12	239	broad.mit.edu	37	17	6909276	6909277	+	Missense_Mutation	DNP	CG	CG	AA	rs553679162		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:6909276_6909277CG>AA	ENST00000251535.6	+	10	1401_1402	c.1348_1349CG>AA	c.(1348-1350)CGg>AAg	p.R450K	AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399540.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	450	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCTGGCTGACCGGGGCCTGCTG	0.619																																							uc002gdx.3		NA																	0				central_nervous_system(1)	1						c.(1348-1350)CGG>AAG		arachidonate 12-lipoxygenase																																				SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6909276_6909277CG>AA	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	Exception_encountered	17.37:g.6909276_6909277delinsAA	ENSP00000251535:p.Arg450Lys					uc002gdy.1_Intron	p.R450K	NM_000697	NP_000688	P18054	LOX12_HUMAN			10	1401_1402	+			450			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	DNP	ENST00000251535.6	37	c.1348_1349CG>AA	CCDS11084.1																																																																																				0.619	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	47	0	0	0	0.004672	0	7	47				
DLG4	1742	broad.mit.edu	37	17	7107104	7107105	+	Missense_Mutation	DNP	CC	CC	AA	rs12452520		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:7107104_7107105CC>AA	ENST00000399506.2	-	5	432_433	c.241_242GG>TT	c.(241-243)GGt>TTt	p.G81F	DLG4_ENST00000399510.2_Missense_Mutation_p.G124F|DLG4_ENST00000302955.6_Missense_Mutation_p.G78F|DLG4_ENST00000485100.1_Missense_Mutation_p.G78F			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	81	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GTCAGTGCCACCTGCGATGCTG	0.609																																							uc002get.3		NA																	0				ovary(1)|breast(1)	2						c.(370-372)GGT>TTT		post-synaptic density protein 95 isoform 1																																				SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7107104_7107105CC>AA	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.241_242delinsAA	17.37:g.7107104_7107105delinsAA	ENSP00000382425:p.Gly81Phe					DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.G21F|DLG4_uc010cly.2_Missense_Mutation_p.G78F|DLG4_uc010vto.1_Missense_Mutation_p.G121F|DLG4_uc002geu.2_Missense_Mutation_p.G78F	p.G124F	NM_001365	NP_001356	P78352	DLG4_HUMAN			7	1571_1572	-			81			PDZ 1.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	DNP	ENST00000399506.2	37	c.370_371GG>TT																																																																																					0.609	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		8	13	0	0	0	0.004672	0	8	13				
C17orf74	201243	broad.mit.edu	37	17	7329778	7329778	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:7329778A>G	ENST00000333870.3	+	3	542	c.468A>G	c.(466-468)tcA>tcG	p.S156S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	156						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ATAGCCACTCAGTCTTCCGTA	0.602																																							uc002ggw.2		NA																	0					0						c.(466-468)TCA>TCG		hypothetical protein LOC201243							107.0	115.0	112.0					17																	7329778		2017	4172	6189	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7329778A>G	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.468A>G	17.37:g.7329778A>G						FGF11_uc010vtw.1_Intron	p.S156S	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	541	+		Prostate(122;0.157)	156						Silent	SNP	ENST00000333870.3	37	c.468A>G	CCDS42255.1																																																																																				0.602	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		22	52	0	0	0	0.010504	0	22	52				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L	p.R273L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	7	1	0	3.52763e-06	0.00499	4.5192e-06	18	7				
EFNB3	1949	broad.mit.edu	37	17	7612491	7612491	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:7612491C>A	ENST00000226091.2	+	5	1017	c.620C>A	c.(619-621)cCc>cAc	p.P207H		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	207					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CCAGGTGACCCCACCAGCAAT	0.687																																							uc002gis.2		NA																	0				ovary(1)	1						c.(619-621)CCC>CAC		ephrin-B3 precursor							39.0	41.0	40.0					17																	7612491		1946	4108	6054	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612491C>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.620C>A	17.37:g.7612491C>A	ENSP00000226091:p.Pro207His						p.P207H	NM_001406	NP_001397	Q15768	EFNB3_HUMAN			5	1017	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	207			Extracellular (Potential).		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.620C>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299174	0.23650	.	.	ENSG00000108947	ENST00000226091	T	0.34275	1.37	4.96	3.98	0.46160	.	0.628414	0.14835	N	0.295622	T	0.16981	0.0408	N	0.08118	0	0.23249	N	0.998044	P	0.39782	0.688	B	0.28916	0.096	T	0.08722	-1.0708	10	0.54805	T	0.06	-15.7139	11.7007	0.51569	0.0:0.9116:0.0:0.0884	.	207	Q15768	EFNB3_HUMAN	H	207	ENSP00000226091:P207H	ENSP00000226091:P207H	P	+	2	0	EFNB3	7553216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.581000	0.46077	2.301000	0.77427	0.568000	0.79292	CCC		0.687	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		13	23	1	0	0.00316338	0.003163	0.00344727	13	23				
PER1	5187	broad.mit.edu	37	17	8049961	8049961	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:8049961C>A	ENST00000317276.4	-	15	2095	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	PER1_ENST00000354903.5_Missense_Mutation_p.A604S|PER1_ENST00000581082.1_Missense_Mutation_p.A600S|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	620	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCTGGAGGCTTCTTTCCTC	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																															uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(1858-1860)GCC>TCC	Other_conserved_DNA_damage_response_genes	period 1							62.0	64.0	64.0					17																	8049961		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049961C>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1858G>T	17.37:g.8049961C>A	ENSP00000314420:p.Ala620Ser					PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.A604S	p.A620S	NM_002616	NP_002607	O15534	PER1_HUMAN			15	2096	-			620			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.1858G>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	3.738	-0.054101	0.07362	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.35973	2.68;1.28	4.99	-1.06	0.10002	.	0.741712	0.12998	N	0.421870	T	0.19127	0.0459	L	0.42245	1.32	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.28933	-1.0028	10	0.06891	T	0.86	-6.7641	1.0431	0.01563	0.1509:0.3547:0.147:0.3474	.	604;620	B4DI49;O15534	.;PER1_HUMAN	S	620;604	ENSP00000314420:A620S;ENSP00000346979:A604S	ENSP00000314420:A620S	A	-	1	0	PER1	7990686	0.000000	0.05858	0.451000	0.26982	0.980000	0.70556	-1.079000	0.03410	-0.010000	0.14271	0.453000	0.30009	GCC		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			9	26	1	0	3.09899e-07	0.004482	4.18449e-07	9	26				
PIK3R5	23533	broad.mit.edu	37	17	8785176	8785176	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:8785176C>T	ENST00000447110.1	-	16	2352	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	PIK3R5_ENST00000584803.1_Missense_Mutation_p.R742H|PIK3R5_ENST00000581552.1_Missense_Mutation_p.R743H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	743	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GTTGCTCCAGCGACTTCGTCC	0.612																																					NSCLC(18;589 615 7696 20311 50332)	NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2227-2229)CGC>CAC		phosphoinositide-3-kinase, regulatory subunit 5							98.0	89.0	92.0					17																	8785176		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8785176C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2228G>A	17.37:g.8785176C>T	ENSP00000392812:p.Arg743His					PIK3R5_uc010vuz.1_Missense_Mutation_p.R743H|PIK3R5_uc002glu.3_Missense_Mutation_p.R357H	p.R743H	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			16	2295	-			743			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2228G>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689109	0.29962	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.81078	-1.45	4.64	3.67	0.42095	.	0.251233	0.41712	N	0.000822	T	0.66848	0.2831	L	0.29908	0.895	0.38040	D	0.935434	B	0.33477	0.413	B	0.23574	0.047	T	0.70655	-0.4812	10	0.87932	D	0	-23.0893	10.1157	0.42589	0.0:0.8304:0.0:0.1696	.	743	Q8WYR1	PI3R5_HUMAN	H	743	ENSP00000392812:R743H	ENSP00000269300:R743H	R	-	2	0	PIK3R5	8725901	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	1.951000	0.40333	1.168000	0.42723	0.462000	0.41574	CGC		0.612	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	10	0	0	0	0.004672	0	3	10				
MYH13	8735	broad.mit.edu	37	17	10250078	10250078	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:10250078A>T	ENST00000418404.3	-	12	1345	c.1182T>A	c.(1180-1182)tcT>tcA	p.S394S	MYH13_ENST00000252172.4_Silent_p.S394S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	394	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCATTTCTGCAGAATTCAGTC	0.468																																							uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(1180-1182)TCT>TCA		myosin, heavy polypeptide 13, skeletal muscle							91.0	83.0	85.0					17																	10250078		1933	4157	6090	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10250078A>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1182T>A	17.37:g.10250078A>T						MYH13_uc010vvf.1_Silent_p.S69S	p.S394S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			13	1272	-			394			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1182T>A	CCDS45613.1																																																																																				0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		11	14	0	0	0	0.008291	0	11	14				
MYH8	4626	broad.mit.edu	37	17	10309664	10309664	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:10309664C>G	ENST00000403437.2	-	20	2316	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	741	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCCTTCTTGCTGTCAATGAA	0.353									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(2221-2223)AGC>ACC		myosin, heavy chain 8, skeletal muscle,							89.0	89.0	89.0					17																	10309664		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10309664C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2222G>C	17.37:g.10309664C>G	ENSP00000384330:p.Ser741Thr					uc002gml.1_Intron	p.S741T	NM_002472	NP_002463	P13535	MYH8_HUMAN			20	2317	-			741			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2222G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281711	0.59758	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.93133	-3.17	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.49916	U	0.000128	D	0.94188	0.8135	M	0.75150	2.29	0.44694	D	0.997685	B	0.20550	0.046	B	0.34385	0.181	D	0.92376	0.5909	10	0.62326	D	0.03	.	18.6502	0.91428	0.0:1.0:0.0:0.0	.	741	P13535	MYH8_HUMAN	T	741	ENSP00000384330:S741T	ENSP00000252173:S741T	S	-	2	0	MYH8	10250389	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.943000	0.40253	2.652000	0.90054	0.650000	0.86243	AGC		0.353	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		12	10	0	0	0	0.001855	0	12	10				
MYH1	4619	broad.mit.edu	37	17	10404639	10404639	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:10404639G>T	ENST00000226207.5	-	27	3620	c.3526C>A	c.(3526-3528)Cag>Aag	p.Q1176K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1176					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCATTTTCTGGAACTCAGCC	0.612																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3526-3528)CAG>AAG		myosin, heavy chain 1, skeletal muscle, adult							85.0	93.0	90.0					17																	10404639		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404639G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3526C>A	17.37:g.10404639G>T	ENSP00000226207:p.Gln1176Lys					uc002gml.1_Intron	p.Q1176K	NM_005963	NP_005954	P12882	MYH1_HUMAN			27	3620	-			1176			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3526C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157098	0.94686	.	.	ENSG00000109061	ENST00000226207	D	0.81739	-1.53	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.41194	U	0.000936	D	0.85788	0.5778	M	0.85630	2.765	0.58432	D	0.999999	P	0.34615	0.459	B	0.39971	0.315	D	0.84890	0.0836	10	0.40728	T	0.16	.	19.7865	0.96442	0.0:0.0:1.0:0.0	.	1176	P12882	MYH1_HUMAN	K	1176	ENSP00000226207:Q1176K	ENSP00000226207:Q1176K	Q	-	1	0	MYH1	10345364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.676000	0.98643	2.751000	0.94390	0.650000	0.86243	CAG		0.612	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		45	46	1	0	6.61955e-31	0.00361	1.27299e-30	45	46				
MYH2	4620	broad.mit.edu	37	17	10426462	10426462	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:10426462A>T	ENST00000245503.5	-	39	6002	c.5618T>A	c.(5617-5619)tTg>tAg	p.L1873*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.L1873*|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1873					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTATCTACCAAATCTTGAAG	0.323																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5617-5619)TTG>TAG		myosin heavy chain IIa							67.0	70.0	69.0					17																	10426462		2202	4299	6501	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426462A>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5618T>A	17.37:g.10426462A>T	ENSP00000245503:p.Leu1873*					uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.L1873*|MYH2_uc010coj.2_Intron	p.L1873*	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			39	5746	-			1873			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.5618T>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	47	13.508358	0.99746	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.65	5.65	0.86999	.	0.000000	0.31519	U	0.007506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	.	.	.	X	1873	.	ENSP00000245503:L1873X	L	-	2	0	MYH2	10367187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	TTG		0.323	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		8	20	0	0	0	0.006214	0	8	20				
MYH3	4621	broad.mit.edu	37	17	10533637	10533637	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:10533637C>A	ENST00000583535.1	-	37	5512	c.5425G>T	c.(5425-5427)Ggg>Tgg	p.G1809W	MYH3_ENST00000226209.7_Missense_Mutation_p.G1809W	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1809					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGCTTCTTCCCGCCCTTCAGC	0.612																																							uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(5425-5427)GGG>TGG		myosin, heavy chain 3, skeletal muscle,							117.0	113.0	114.0					17																	10533637		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10533637C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5425G>T	17.37:g.10533637C>A	ENSP00000464317:p.Gly1809Trp						p.G1809W	NM_002470	NP_002461	P11055	MYH3_HUMAN			36	5502	-			1809			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.5425G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561910	0.86335	.	.	ENSG00000109063	ENST00000226209	T	0.78364	-1.17	4.56	4.56	0.56223	Myosin tail (1);	.	.	.	.	D	0.92971	0.7763	H	0.98351	4.21	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.95747	0.8788	9	0.87932	D	0	.	17.8754	0.88824	0.0:1.0:0.0:0.0	.	1809	P11055	MYH3_HUMAN	W	1809	ENSP00000226209:G1809W	ENSP00000226209:G1809W	G	-	1	0	MYH3	10474362	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	5.929000	0.70096	2.509000	0.84616	0.655000	0.94253	GGG		0.612	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		22	64	1	0	1.10923e-09	0.00278	1.65702e-09	22	64				
DNAH9	1770	broad.mit.edu	37	17	11687751	11687751	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:11687751C>T	ENST00000262442.4	+	41	8024	c.7956C>T	c.(7954-7956)atC>atT	p.I2652I	DNAH9_ENST00000454412.2_Silent_p.I2652I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2652	AAA 3. {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)		CCCCACTGATCGATCTGGCCC	0.512																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7954-7956)ATC>ATT		dynein, axonemal, heavy chain 9 isoform 2							174.0	165.0	168.0					17																	11687751		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.chr17:11687751C>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.7956C>T	17.37:g.11687751C>T						DNAH9_uc010coo.2_Silent_p.I1946I	p.I2652I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	8024	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2652			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7956C>T	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		29	78	0	0	0	0.00632	0	29	78				
DNAH9	1770	broad.mit.edu	37	17	11687858	11687858	+	Splice_Site	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:11687858T>C	ENST00000262442.4	+	41	8129		c.e41+2		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						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)		ATTTTCCAGGTGAGTTCATCG	0.473																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.e41+2		dynein, axonemal, heavy chain 9 isoform 2							131.0	129.0	129.0					17																	11687858		2203	4300	6503	SO:0001630	splice_region_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.chr17:11687858T>C	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.8061+2T>C	17.37:g.11687858T>C						DNAH9_uc010coo.2_Splice_Site_p.Q1981_splice	p.Q2687_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	8129	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.8061_splice	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095732	0.76870	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7046	0.77569	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH9	11628583	1.000000	0.71417	0.993000	0.49108	0.759000	0.43091	8.029000	0.88807	2.113000	0.64589	0.523000	0.50628	.		0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Intron	20	66	0	0	0	0.00278	0	20	66				
NCOR1	9611	broad.mit.edu	37	17	15964934	15964934	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:15964934G>A	ENST00000268712.3	-	37	5919	c.5662C>T	c.(5662-5664)Cca>Tca	p.P1888S	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.P472S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1888	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGCCACTTGGAAAGGCTGAA	0.478																																							uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(5662-5664)CCA>TCA		nuclear receptor co-repressor 1							109.0	108.0	108.0					17																	15964934		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15964934G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5662C>T	17.37:g.15964934G>A	ENSP00000268712:p.Pro1888Ser					NCOR1_uc002gpn.2_Intron|NCOR1_uc002gpm.2_Missense_Mutation_p.P408S|NCOR1_uc010vwb.1_Missense_Mutation_p.P472S|NCOR1_uc010coy.2_Missense_Mutation_p.P796S|NCOR1_uc010vwc.1_Missense_Mutation_p.P698S	p.P1888S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5902	-			1888			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5662C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603083	0.28534	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.50001	0.76;0.81	5.87	5.87	0.94306	.	0.093598	0.85682	D	0.000000	T	0.41719	0.1171	L	0.60455	1.87	0.53005	D	0.999969	B;B;B;B	0.21381	0.012;0.048;0.028;0.055	B;B;B;B	0.25140	0.007;0.027;0.021;0.058	T	0.26018	-1.0115	10	0.20046	T	0.44	-6.9323	8.6269	0.33895	0.1612:0.0:0.8388:0.0	.	698;1792;1888;408	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	S	1888;1792;472	ENSP00000268712:P1888S;ENSP00000379198:P472S	ENSP00000268712:P1888S	P	-	1	0	NCOR1	15905659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.935000	0.56560	2.785000	0.95823	0.650000	0.86243	CCA		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		24	64	0	0	0	0.00278	0	24	64				
SLC47A1	55244	broad.mit.edu	37	17	19470125	19470125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:19470125C>T	ENST00000270570.4	+	13	1215	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.Q377*|SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.Q377*|SLC47A1_ENST00000575023.1_Intron|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000436810.2_Nonsense_Mutation_p.Q354*|SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.Q182*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	377					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCTGGTGGCTCAGGTGGTTCC	0.423																																							uc002gvy.1		NA																	0					0						c.(1129-1131)CAG>TAG		solute carrier family 47, member 1							225.0	195.0	205.0					17																	19470125		2203	4300	6503	SO:0001587	stop_gained	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19470125C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1129C>T	17.37:g.19470125C>T	ENSP00000270570:p.Gln377*					SLC47A1_uc002gvx.2_Nonsense_Mutation_p.Q377*|SLC47A1_uc010vyz.1_Nonsense_Mutation_p.Q354*|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Nonsense_Mutation_p.Q182*|SLC47A1_uc010vza.1_Nonsense_Mutation_p.Q89*|SLC47A1_uc010vzb.1_Nonsense_Mutation_p.Q111*|SLC47A1_uc010vzc.1_Nonsense_Mutation_p.Q49*	p.Q377*	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			13	1215	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		377			Helical; (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Nonsense_Mutation	SNP	ENST00000270570.4	37	c.1129C>T	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823017	0.90873	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.37	3.15	0.36227	.	0.503869	0.23734	N	0.045097	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-13.4477	6.6725	0.23076	0.1419:0.6551:0.1232:0.0798	.	.	.	.	X	354;377;377;377;111;89	.	ENSP00000270570:Q377X	Q	+	1	0	SLC47A1	19410717	0.030000	0.19436	0.999000	0.59377	0.991000	0.79684	0.032000	0.13732	1.253000	0.44018	0.655000	0.94253	CAG		0.423	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		34	25	0	0	0	0.003755	0	34	25				
LGALS9B	284194	broad.mit.edu	37	17	20354854	20354854	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:20354854C>A	ENST00000423676.3	-	10	927	c.864G>T	c.(862-864)tgG>tgT	p.W288C	LGALS9B_ENST00000324290.5_Missense_Mutation_p.W287C			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	288	Beta-galactoside binding 2. {ECO:0000250}.|Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCTCAGACCCCCAAGAGTTGT	0.577																																							uc002gxa.1		NA																	0				skin(1)	1						c.(862-864)TGG>TGT		galectin-9 like							9.0	14.0	13.0					17																	20354854		2127	4224	6351	SO:0001583	missense	284194						sugar binding	g.chr17:20354854C>A		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.864G>T	17.37:g.20354854C>A	ENSP00000388841:p.Trp288Cys					LGALS9B_uc002gwz.1_Missense_Mutation_p.W287C|LGALS9B_uc010vzh.1_Missense_Mutation_p.W200C	p.W288C	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN			10	929	-			288			Galectin 2.|Beta-galactoside binding 2 (By similarity).		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.864G>T		.	.	.	.	.	.	.	.	.	.	C	13.56	2.272423	0.40194	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	1.97	0.26223	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88940	0.3379	9	0.87932	D	0	.	10.0176	0.42024	0.0:1.0:0.0:0.0	.	288;287	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	C	287;288	.	ENSP00000315564:W288C	W	-	3	0	LGALS9B	20295446	1.000000	0.71417	0.961000	0.40146	0.571000	0.35966	5.479000	0.66813	1.434000	0.47414	0.194000	0.17425	TGG		0.577	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		11	32	1	0	7.93312e-07	0.00245	1.05115e-06	11	32				
UBBP4	23666	broad.mit.edu	37	17	21731178	21731178	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:21731178G>T	ENST00000578713.1	+	1	484	c.480G>T	c.(478-480)ctG>ctT	p.L160L	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Silent_p.L160L|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TGAAGACCCTGACCGGCAAGA	0.532																																							uc002gyy.3		NA																	0					NA						c.(478-480)CTG>CTT		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001819	synonymous_variant	0							g.chr17:21731178G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.480G>T	17.37:g.21731178G>T							p.L160L							2	605	+									Silent	SNP	ENST00000578713.1	37	c.480G>T																																																																																					0.532	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			15	49	1	0	3.99206e-14	0.007413	6.7865e-14	15	49				
PIGS	94005	broad.mit.edu	37	17	26883216	26883216	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:26883216C>T	ENST00000308360.7	-	10	1524	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V	PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000395346.2_Silent_p.V375V|PIGS_ENST00000543734.1_Silent_p.V322V	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	383					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCATCACTCGCACCATGTCCA	0.507																																							uc002hbo.2		NA																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(1147-1149)GTG>GTA		phosphatidylinositol glycan anchor biosynthesis,							234.0	170.0	192.0					17																	26883216		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26883216C>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1149G>A	17.37:g.26883216C>T						PIGS_uc002hbn.2_Silent_p.V375V|PIGS_uc010wap.1_Silent_p.V322V	p.V383V	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			10	1522	-	Lung NSC(42;0.00431)		383			Lumenal (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.1149G>A	CCDS11235.1																																																																																				0.507	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		13	85	0	0	0	0.003163	0	13	85				
CRYBA1	1411	broad.mit.edu	37	17	27579114	27579114	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:27579114G>T	ENST00000225387.3	+	4	249	c.248G>T	c.(247-249)gGg>gTg	p.G83V		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	83	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGCTTCTGTGGGCAACAGTTT	0.507											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002hdw.2		NA																	0					0						c.(247-249)GGG>GTG		crystallin, beta A3							160.0	143.0	149.0					17																	27579114		2203	4300	6503	SO:0001583	missense	1411				visual perception	soluble fraction	structural constituent of eye lens	g.chr17:27579114G>T		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.248G>T	17.37:g.27579114G>T	ENSP00000225387:p.Gly83Val		OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	795		p.G83V	NM_005208	NP_005199	P05813	CRBA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		4	255	+			83			Beta/gamma crystallin 'Greek key' 2.		Q13633|Q14CM9	Missense_Mutation	SNP	ENST00000225387.3	37	c.248G>T	CCDS11249.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039337	0.93630	.	.	ENSG00000108255	ENST00000225387	D	0.93076	-3.16	5.88	5.88	0.94601	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98945	1.0792	10	0.87932	D	0	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	83	P05813	CRBA1_HUMAN	V	83	ENSP00000225387:G83V	ENSP00000225387:G83V	G	+	2	0	CRYBA1	24603240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.414000	0.97362	2.789000	0.95967	0.655000	0.94253	GGG		0.507	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		14	82	1	0	6.31663e-08	0.003163	8.85996e-08	14	82				
ASIC2	40	broad.mit.edu	37	17	31352947	31352947	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:31352947G>A	ENST00000359872.6	-	5	1800	c.1039C>T	c.(1039-1041)Cta>Tta	p.L347L	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Silent_p.L398L	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	347					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TACTGACCTAGGGCAGGCTCT	0.527																																							uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1039-1041)CTA>TTA		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						77.0	63.0	68.0					17																	31352947		2203	4300	6503	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31352947G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1039C>T	17.37:g.31352947G>A						ACCN1_uc002hht.2_Silent_p.L398L	p.L347L	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	5	1313	-		Breast(31;0.042)|Ovarian(249;0.202)	347			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.1039C>T	CCDS42296.1																																																																																				0.527	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		15	33	0	0	0	0.00245	0	15	33				
CCL13	6357	broad.mit.edu	37	17	32685094	32685094	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:32685094T>A	ENST00000225844.2	+	3	316	c.241T>A	c.(241-243)Tgg>Agg	p.W81R		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	81					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAAGGAGAAGTGGGTCCAGAA	0.488																																							uc002hic.2		NA																	0					0						c.(241-243)TGG>AGG		small inducible cytokine A13 precursor							72.0	70.0	71.0					17																	32685094		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685094T>A	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.241T>A	17.37:g.32685094T>A	ENSP00000225844:p.Trp81Arg						p.W81R	NM_005408	NP_005399	Q99616	CCL13_HUMAN			3	316	+		Ovarian(249;0.0443)|Breast(31;0.151)	81					O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.241T>A	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	T	7.474	0.647206	0.14516	.	.	ENSG00000181374	ENST00000225844	T	0.10005	2.92	4.37	4.37	0.52481	Chemokine interleukin-8-like domain (3);	.	.	.	.	T	0.30135	0.0755	.	.	.	0.43808	D	0.996367	D	0.89917	1.0	D	0.97110	1.0	T	0.02220	-1.1193	8	0.59425	D	0.04	.	9.9614	0.41699	0.0:0.0:0.0:1.0	.	81	Q99616	CCL13_HUMAN	R	81	ENSP00000225844:W81R	ENSP00000225844:W81R	W	+	1	0	CCL13	29709207	0.995000	0.38212	0.890000	0.34922	0.372000	0.29890	1.435000	0.34969	1.594000	0.50039	0.459000	0.35465	TGG		0.488	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		11	43	0	0	0	0.010729	0	11	43				
UNC45B	146862	broad.mit.edu	37	17	33497163	33497163	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:33497163G>T	ENST00000268876.5	+	12	1675	c.1578G>T	c.(1576-1578)cgG>cgT	p.R526R	UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Silent_p.R526R|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000394570.2_Silent_p.R526R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	526					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TAGACACTCGGACCCGACGCT	0.607																																							uc002hja.2		NA																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1576-1578)CGG>CGT		cardiomyopathy associated 4 isoform 1							88.0	76.0	80.0					17																	33497163		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33497163G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1578G>T	17.37:g.33497163G>T						UNC45B_uc002hjb.2_Silent_p.R526R|UNC45B_uc002hjc.2_Silent_p.R526R|UNC45B_uc010cto.2_Intron	p.R526R	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			12	1675	+		Ovarian(249;0.17)	526					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1578G>T	CCDS11292.1																																																																																				0.607	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		22	89	1	0	6.44725e-10	0.002299	9.7166e-10	22	89				
RDM1	201299	broad.mit.edu	37	17	34251770	34251770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:34251770C>A	ENST00000293273.6	-	4	451	c.406G>T	c.(406-408)Gag>Tag	p.E136*	RDM1_ENST00000394528.3_Nonsense_Mutation_p.E136*|RDM1_ENST00000430160.2_Nonsense_Mutation_p.E113*|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000431884.2_Nonsense_Mutation_p.E136*|RDM1_ENST00000419453.2_Nonsense_Mutation_p.E113*|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394529.3_Nonsense_Mutation_p.E113*|RDM1_ENST00000394527.1_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	136					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCAGAAAGCTCCTGAAGCTGT	0.418								Other identified genes with known or suspected DNA repair function																															uc002hkh.2		NA																	0				ovary(1)	1						c.(406-408)GAG>TAG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RAD52 motif 1 isoform 1							65.0	63.0	64.0					17																	34251770		2203	4300	6503	SO:0001587	stop_gained	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34251770C>A	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.406G>T	17.37:g.34251770C>A	ENSP00000293273:p.Glu136*					RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Nonsense_Mutation_p.E113*|RDM1_uc002hkg.3_Nonsense_Mutation_p.E113*|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Nonsense_Mutation_p.E136*|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Nonsense_Mutation_p.E113*|RDM1_uc002hki.2_Nonsense_Mutation_p.E136*	p.E136*	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	455	-		Ovarian(249;0.17)	136					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Nonsense_Mutation	SNP	ENST00000293273.6	37	c.406G>T	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777459	0.49786	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884;ENST00000430160;ENST00000394528	.	.	.	3.27	2.29	0.28610	.	0.381500	0.26963	N	0.021618	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-13.0365	5.4484	0.16548	0.0:0.7378:0.0:0.2622	.	.	.	.	X	136;15;113;136;113;136	.	ENSP00000293273:E136X	E	-	1	0	RDM1	31275883	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	0.652000	0.24888	0.714000	0.32081	-0.229000	0.12294	GAG		0.418	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		33	42	1	0	1.26612e-14	0.003271	2.19185e-14	33	42				
DHRS11	79154	broad.mit.edu	37	17	34958299	34958299	+	IGR	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:34958299C>A	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.F20L|MRM1_ENST00000585770.1_5'Flank	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CCCGTCATTTCTCCCATGCAG	0.677																																							uc002hne.2		NA																	0					0						c.(58-60)TTC>TTA		mitochondrial rRNA methyltransferase 1 homolog							45.0	47.0	46.0					17																	34958299		2202	4300	6502	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958299C>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958299C>A						MRM1_uc002hnf.2_5'Flank	p.F20L	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	275	+		Breast(25;0.00957)|Ovarian(249;0.17)	20					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.60C>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336063	0.60963	.	.	ENSG00000129282	ENST00000250156	T	0.43688	0.94	4.76	1.62	0.23740	.	0.783936	0.12513	N	0.462323	T	0.25606	0.0623	L	0.29908	0.895	0.19300	N	0.999973	B	0.02656	0.0	B	0.04013	0.001	T	0.15549	-1.0433	10	0.30854	T	0.27	-7.3144	3.7823	0.08686	0.0:0.5489:0.1968:0.2543	.	20	Q6IN84	MRM1_HUMAN	L	20	ENSP00000250156:F20L	ENSP00000250156:F20L	F	+	3	2	MRM1	32032412	0.034000	0.19679	0.044000	0.18714	0.818000	0.46254	0.620000	0.24403	0.706000	0.31912	0.555000	0.69702	TTC		0.677	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		13	55	1	0	0.00010058	0.001368	0.000118575	13	55				
SRCIN1	80725	broad.mit.edu	37	17	36708782	36708782	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:36708782T>A	ENST00000264659.7	-	13	2605	c.2381A>T	c.(2380-2382)gAg>gTg	p.E794V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E828V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	666					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGCCTCCACCTCCACGCGCAG	0.672																																							uc002hqd.2		NA																	0					0						c.(2380-2382)GAG>GTG		SNAP25-interacting protein							20.0	24.0	23.0					17																	36708782		2139	4238	6377	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708782T>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2381A>T	17.37:g.36708782T>A	ENSP00000264659:p.Glu794Val					SRCIN1_uc002hqf.1_Missense_Mutation_p.E666V|SRCIN1_uc002hqe.2_Missense_Mutation_p.E648V|SRCIN1_uc002hqg.2_Missense_Mutation_p.E100V	p.E794V	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			13	2606	-			666					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2381A>T	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.969716	0.92855	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.59906	0.23	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.78558	-0.2158	10	0.87932	D	0	-31.6419	13.9088	0.63853	0.0:0.0:0.0:1.0	.	100;666;666;794	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	V	794;575;648	ENSP00000264659:E794V	ENSP00000264659:E794V	E	-	2	0	SRCIN1	33962308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.126000	0.71635	2.123000	0.65237	0.459000	0.35465	GAG		0.672	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		3	14	0	0	0	0.004672	0	3	14				
CWC25	54883	broad.mit.edu	37	17	36963160	36963160	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:36963160T>A	ENST00000225428.5	-	7	1057	c.760A>T	c.(760-762)Atg>Ttg	p.M254L	CWC25_ENST00000536127.1_Missense_Mutation_p.M191L	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	254										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TGGTTCTTCATCCCATGCCCT	0.537																																							uc002hqu.2		NA																	0					0						c.(760-762)ATG>TTG		coiled-coil domain containing 49							110.0	107.0	108.0					17																	36963160		1960	4145	6105	SO:0001583	missense	54883							g.chr17:36963160T>A	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.760A>T	17.37:g.36963160T>A	ENSP00000225428:p.Met254Leu					CWC25_uc010wdv.1_Missense_Mutation_p.M191L|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA	p.M254L	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN			7	913	-			254					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.760A>T	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.506209	0.00992	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	T;T	0.46063	0.88;0.88	5.04	-0.0217	0.13950	.	1.517220	0.03264	N	0.183672	T	0.22666	0.0547	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10451	-1.0629	10	0.27082	T	0.32	.	0.215	0.00161	0.2609:0.2629:0.2344:0.2419	.	191;254	B4DJK2;Q9NXE8	.;CWC25_HUMAN	L	254;191	ENSP00000225428:M254L;ENSP00000438566:M191L	ENSP00000225428:M254L	M	-	1	0	CWC25	34216686	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.338000	0.07842	0.070000	0.16634	0.379000	0.24179	ATG		0.537	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		26	42	0	0	0	0.005443	0	26	42				
CASC3	22794	broad.mit.edu	37	17	38319962	38319962	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:38319962G>T	ENST00000264645.7	+	7	1240	c.1014G>T	c.(1012-1014)cgG>cgT	p.R338R		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						ATGGTGGCCGGTCTGGTGAGA	0.552																																							uc010cwt.1		NA																	0				ovary(1)	1						c.(1012-1014)CGG>CGT		metastatic lymph node 51							206.0	197.0	200.0					17																	38319962		2203	4300	6503	SO:0001819	synonymous_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319962G>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1014G>T	17.37:g.38319962G>T						CASC3_uc010cws.1_Silent_p.R338R|CASC3_uc002hue.2_Silent_p.R338R	p.R338R	NM_007359	NP_031385	O15234	CASC3_HUMAN			7	1309	+			338					A8K8R0	Silent	SNP	ENST00000264645.7	37	c.1014G>T	CCDS11362.1																																																																																				0.552	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		35	190	1	0	4.3181e-19	0.002836	7.8933e-19	35	190				
KRTAP1-5	83895	broad.mit.edu	37	17	39183248	39183248	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:39183248C>A	ENST00000361883.5	-	1	206	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	54	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGCAGGTCCCACTGGTTGAG	0.627																																							uc002hvu.2		NA																	0					0						c.(160-162)GGG>TGG		keratin associated protein 1.5							45.0	50.0	48.0					17																	39183248		2020	4198	6218	SO:0001583	missense	83895					keratin filament		g.chr17:39183248C>A	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.160G>T	17.37:g.39183248C>A	ENSP00000355302:p.Gly54Trp						p.G54W	NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	207	-		Breast(137;0.00043)	54			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.160G>T	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	C	4.166	0.029221	0.08054	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.01933	4.55	1.81	1.81	0.25067	.	.	.	.	.	T	0.11239	0.0274	M	0.83384	2.64	0.23186	N	0.998159	D	0.67145	0.996	D	0.69824	0.966	T	0.03364	-1.1044	9	0.59425	D	0.04	.	9.5854	0.39512	0.0:1.0:0.0:0.0	.	54	Q9BYS1	KRA15_HUMAN	W	54	ENSP00000355302:G54W	ENSP00000355302:G54W	G	-	1	0	KRTAP1-5	36436774	0.000000	0.05858	0.045000	0.18777	0.149000	0.21700	-0.296000	0.08287	1.292000	0.44672	0.467000	0.42956	GGG		0.627	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			11	80	1	0	6.40141e-05	0.010729	7.65288e-05	11	80				
KRTAP1-3	81850	broad.mit.edu	37	17	39190682	39190682	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:39190682G>T	ENST00000344363.5	-	1	425	c.392C>A	c.(391-393)cCa>cAa	p.P131Q		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	141						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCAGGTTGGGGGTGTGCA	0.667																																							uc002hvv.2		NA																	0					0						c.(391-393)CCA>CAA		keratin associated protein 1-3							27.0	34.0	32.0					17																	39190682		2101	4200	6301	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190682G>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.392C>A	17.37:g.39190682G>T	ENSP00000344420:p.Pro131Gln						p.P131Q	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	426	-		Breast(137;0.000496)	141					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.392C>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924379	0.73213	.	.	ENSG00000221880	ENST00000344363	T	0.34472	1.36	4.53	4.53	0.55603	.	.	.	.	.	T	0.58061	0.2096	.	.	.	0.38994	D	0.959213	D	0.76494	0.999	D	0.74348	0.983	T	0.62746	-0.6789	8	0.51188	T	0.08	.	13.4944	0.61416	0.0:0.0:1.0:0.0	.	141	Q8IUG1	KRA13_HUMAN	Q	131	ENSP00000344420:P131Q	ENSP00000344420:P131Q	P	-	2	0	KRTAP1-3	36444208	1.000000	0.71417	0.899000	0.35326	0.837000	0.47467	3.329000	0.52060	2.444000	0.82710	0.655000	0.94253	CCA		0.667	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			4	59	1	0	0.00909568	0.009096	0.00964006	4	59				
KLHL10	317719	broad.mit.edu	37	17	40001920	40001920	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:40001920G>A	ENST00000293303.4	+	3	1380	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	409					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ATGAGCCAGAGACCAATCAAT	0.502																																							uc010cxr.2		NA																	0				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1225-1227)GAG>GAA		kelch-like 10							83.0	81.0	81.0					17																	40001920		2115	4237	6352	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:40001920G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1227G>A	17.37:g.40001920G>A						KLHL10_uc010wfv.1_Silent_p.E403E|KLHL10_uc010wfw.1_Silent_p.E321E	p.E409E	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN			3	1369	+		Breast(137;0.000162)	409			Kelch 3.		Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.1227G>A	CCDS42340.1																																																																																				0.502	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		16	63	0	0	0	0.004007	0	16	63				
KLHL11	55175	broad.mit.edu	37	17	40010890	40010890	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:40010890T>C	ENST00000319121.3	-	2	1289	c.1229A>G	c.(1228-1230)tAt>tGt	p.Y410C		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	410										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCCAGCAACATACACGTAGGA	0.408																																							uc002hyf.1		NA																	0					0						c.(1228-1230)TAT>TGT		kelch-like 11 precursor							153.0	141.0	145.0					17																	40010890		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010890T>C		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1229A>G	17.37:g.40010890T>C	ENSP00000314608:p.Tyr410Cys						p.Y410C	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			2	1235	-		Breast(137;0.00156)	410			Kelch 2.			Missense_Mutation	SNP	ENST00000319121.3	37	c.1229A>G	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357750	0.61403	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	D	0.91686	-2.89	5.42	5.42	0.78866	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97749	1.0213	10	0.87932	D	0	0.6739	15.7504	0.77980	0.0:0.0:0.0:1.0	.	410	Q9NVR0	KLH11_HUMAN	C	410;273	ENSP00000314608:Y410C	ENSP00000314608:Y410C	Y	-	2	0	KLHL11	37264416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.559000	0.82265	2.170000	0.68504	0.482000	0.46254	TAT		0.408	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		22	100	0	0	0	0.002299	0	22	100				
NKIRAS2	28511	broad.mit.edu	37	17	40174455	40174455	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:40174455G>T	ENST00000307641.5	+	3	754	c.133G>T	c.(133-135)Ggc>Tgc	p.G45C	NKIRAS2_ENST00000316082.4_Missense_Mutation_p.G45C|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.G45C|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.G45C|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.G45C|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.G43C|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.G45C|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.G45C	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	45	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CATCTACGTGGGCTCCATTGA	0.552																																							uc002hyq.2		NA																	0				ovary(1)	1						c.(133-135)GGC>TGC		NFKB inhibitor interacting Ras-like 2 isoform a							53.0	51.0	52.0					17																	40174455		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40174455G>T	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.133G>T	17.37:g.40174455G>T	ENSP00000303580:p.Gly45Cys					NKIRAS2_uc010wgd.1_Missense_Mutation_p.G45C|NKIRAS2_uc002hyr.2_Missense_Mutation_p.G45C|NKIRAS2_uc002hys.2_Missense_Mutation_p.G45C|NKIRAS2_uc010wge.1_Missense_Mutation_p.G45C|NKIRAS2_uc002hyt.2_Missense_Mutation_p.G45C	p.G45C	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			3	198	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	45			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.133G>T	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012585	0.75161	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T;T	0.80393	-1.05;-1.05;-1.37;-1.05;-1.05;-1.05;-0.21	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	L	0.46157	1.445	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.045	D;D;B	0.97110	1.0;0.986;0.076	D	0.88020	0.2768	10	0.87932	D	0	-21.5495	19.8304	0.96632	0.0:0.0:1.0:0.0	.	45;45;45	B4DNM3;E9PAZ8;Q9NYR9	.;.;KBRS2_HUMAN	C	45;43;45;45;45;45;45;45	ENSP00000303580:G45C;ENSP00000377462:G43C;ENSP00000401976:G45C;ENSP00000377458:G45C;ENSP00000377459:G45C;ENSP00000377463:G45C;ENSP00000312773:G45C	ENSP00000303580:G45C	G	+	1	0	NKIRAS2	37427981	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.869000	0.99810	2.775000	0.95449	0.585000	0.79938	GGC		0.552	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		14	39	1	0	2.31682e-05	0.003163	2.85199e-05	14	39				
KCNH4	23415	broad.mit.edu	37	17	40315736	40315736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:40315736G>A	ENST00000264661.3	-	13	2697	c.2365C>T	c.(2365-2367)Cag>Tag	p.Q789*	KCNH4_ENST00000607371.1_Nonsense_Mutation_p.Q789*	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	789					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGGCCCTGGCCAGCCAGG	0.662																																					NSCLC(117;707 1703 2300 21308 31858)	NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(2365-2367)CAG>TAG		potassium voltage-gated channel, subfamily H,							14.0	15.0	15.0					17																	40315736		2175	4249	6424	SO:0001587	stop_gained	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315736G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2365C>T	17.37:g.40315736G>A	ENSP00000264661:p.Gln789*						p.Q789*	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	13	2698	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	789			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000264661.3	37	c.2365C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	42	9.553042	0.99202	.	.	ENSG00000089558	ENST00000264661	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	17.5551	0.87888	0.0:0.0:1.0:0.0	.	.	.	.	X	789	.	ENSP00000264661:Q789X	Q	-	1	0	KCNH4	37569262	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.180000	0.58296	2.242000	0.73789	0.484000	0.47621	CAG		0.662	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	13	0	0	0	0.000602	0	5	13				
SOST	50964	broad.mit.edu	37	17	41835995	41835995	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:41835995C>T	ENST00000301691.2	-	1	161	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	39					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TCTCCGAGCTCGGGGATGATT	0.632																																							uc002iec.1		NA																	0					0						c.(115-117)GAG>AAG		sclerostin precursor							79.0	74.0	75.0					17																	41835995		2203	4300	6503	SO:0001583	missense	50964				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41835995C>T	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"""sclerosteosis"""			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.115G>A	17.37:g.41835995C>T	ENSP00000301691:p.Glu39Lys						p.E39K	NM_025237	NP_079513	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	1	162	-		Breast(137;0.00725)	39					Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.115G>A	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102971	0.56183	.	.	ENSG00000167941	ENST00000301691	T	0.76060	-0.99	4.36	3.39	0.38822	.	0.203421	0.42053	D	0.000766	T	0.63129	0.2485	L	0.46157	1.445	0.38241	D	0.941311	P	0.37731	0.607	B	0.32928	0.155	T	0.64935	-0.6290	10	0.39692	T	0.17	-8.3192	10.4156	0.44320	0.0:0.9087:0.0:0.0913	.	39	Q9BQB4	SOST_HUMAN	K	39	ENSP00000301691:E39K	ENSP00000301691:E39K	E	-	1	0	SOST	39191521	0.997000	0.39634	0.594000	0.28785	0.879000	0.50718	3.857000	0.55972	1.057000	0.40506	0.555000	0.69702	GAG		0.632	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		6	77	0	0	0	0.00308	0	6	77				
PPY	5539	broad.mit.edu	37	17	42018976	42018976	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:42018976C>T	ENST00000591228.1	-	2	134	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	PPY_ENST00000587006.1_Missense_Mutation_p.C16Y|PPY_ENST00000225992.3_Missense_Mutation_p.C16Y			P01298	PAHO_HUMAN	pancreatic polypeptide	16					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAGAGCCACGCAGGTGGACAG	0.642																																							uc002iep.2		NA																	0					0						c.(46-48)TGC>TAC		pancreatic polypeptide preproprotein							59.0	53.0	55.0					17																	42018976		2203	4300	6503	SO:0001583	missense	5539				digestion|protein secretion	extracellular region	hormone activity	g.chr17:42018976C>T		CCDS11472.1	17q21.31	2013-02-28			ENSG00000108849	ENSG00000108849		"""Endogenous ligands"""	9327	protein-coding gene	gene with protein product	"""pancreatic polypeptide Y"", ""prepro-PP (prepropancreatic polypeptide)"""	167780				3753985	Standard	NM_002722		Approved	PNP	uc002iep.3	P01298		ENST00000591228.1:c.47G>A	17.37:g.42018976C>T	ENSP00000466009:p.Cys16Tyr						p.C16Y	NM_002722	NP_002713	P01298	PAHO_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	92	-		Breast(137;0.00314)|Prostate(33;0.0724)	16						Missense_Mutation	SNP	ENST00000591228.1	37	c.47G>A	CCDS11472.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.874079	0.33069	.	.	ENSG00000108849	ENST00000225992	T	0.20463	2.07	4.47	3.48	0.39840	.	0.324971	0.29884	N	0.010957	T	0.16171	0.0389	.	.	.	0.09310	N	1	B	0.26935	0.164	B	0.21917	0.037	T	0.17868	-1.0355	9	0.66056	D	0.02	-4.5632	9.6367	0.39811	0.2245:0.7755:0.0:0.0	.	16	P01298	PAHO_HUMAN	Y	16	ENSP00000225992:C16Y	ENSP00000225992:C16Y	C	-	2	0	PPY	39374502	0.007000	0.16637	0.031000	0.17742	0.972000	0.66771	0.480000	0.22244	1.187000	0.43000	0.561000	0.74099	TGC		0.642	PPY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457656.1	NM_002722		9	39	0	0	0	0.004482	0	9	39				
ITGA2B	3674	broad.mit.edu	37	17	42451767	42451767	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:42451767C>A	ENST00000262407.5	-	29	3046	c.3015G>T	c.(3013-3015)ctG>ctT	p.L1005L	ITGA2B_ENST00000353281.4_Silent_p.L971L	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	1005					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GCAGGCCACCCAGCACACCCA	0.647																																							uc002igt.1		NA																	0				ovary(2)|lung(1)	3						c.(3013-3015)CTG>CTT		integrin alpha 2b preproprotein	Tirofiban(DB00775)						158.0	141.0	147.0					17																	42451767		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42451767C>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.3015G>T	17.37:g.42451767C>A						ITGA2B_uc002igu.1_3'UTR	p.L1005L	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	29	3047	-		Prostate(33;0.0181)	1005			Helical; (Potential).		B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.3015G>T	CCDS32665.1																																																																																				0.647	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			26	88	1	0	3.08376e-08	0.00333	4.38327e-08	26	88				
ITGA2B	3674	broad.mit.edu	37	17	42457493	42457494	+	Missense_Mutation	DNP	CC	CC	AA	rs139770734	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:42457493_42457494CC>AA	ENST00000262407.5	-	17	1659_1660	c.1628_1629GG>TT	c.(1627-1629)cGG>cTT	p.R543L	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R543L	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGGCTTCTGCCGGTCCAGCTG	0.683																																							uc002igt.1		NA																	0				ovary(2)|lung(1)	3						c.(1627-1629)CGG>CTT		integrin alpha 2b preproprotein	Tirofiban(DB00775)																																			SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457493_42457494CC>AA		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1628_1629delinsAA	17.37:g.42457493_42457494delinsAA	ENSP00000262407:p.Arg543Leu					ITGA2B_uc002igu.1_Missense_Mutation_p.R24L	p.R543L	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	17	1660_1661	-		Prostate(33;0.0181)	543			Extracellular (Potential).		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	DNP	ENST00000262407.5	37	c.1628_1629GG>TT	CCDS32665.1																																																																																				0.683	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			14	31	0	0	0	0.004672	0	14	31				
LRRC37A4P	55073	broad.mit.edu	37	17	43625394	43625394	+	RNA	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:43625394C>A	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							GTAGTCTTCTCCAGGGCTGTA	0.532																																							uc002ijh.2		NA																	0					NA						c.(610-612)GAG>TAG		Homo sapiens cDNA FLJ45049 fis, clone BRAWH3022347.																																						0							g.chr17:43625394C>A																													17.37:g.43625394C>A						uc010wjv.1_Intron	p.E204*							1	731	-									Nonsense_Mutation	SNP	ENST00000586411.1	37	c.610G>T																																																																																					0.532	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			35	284	1	0	1.06647e-15	0.003755	1.86523e-15	35	284				
ITGB3	3690	broad.mit.edu	37	17	45361879	45361879	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:45361879G>C	ENST00000559488.1	+	4	448	c.432G>C	c.(430-432)atG>atC	p.M144I	ITGB3_ENST00000560629.1_Missense_Mutation_p.G133R|ITGB3_ENST00000435993.2_Missense_Mutation_p.M97I|ITGB3_ENST00000571680.1_Missense_Mutation_p.M144I	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	144	VWFA.		M -> R (in GT; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface consistent with a severe type 1 phenotype). {ECO:0000269|PubMed:20020534}.		activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ACTACTTGATGGACCTGTCTT	0.488																																							uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(430-432)ATG>ATC		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						108.0	94.0	99.0					17																	45361879		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45361879G>C		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.432G>C	17.37:g.45361879G>C	ENSP00000452786:p.Met144Ile					ITGB3_uc002ili.1_Missense_Mutation_p.M144I|ITGB3_uc010wkr.1_RNA	p.M144I	NM_000212	NP_000203	P05106	ITB3_HUMAN			4	452	+			144			VWFA.|Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.432G>C	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034377	0.93575	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95001	-3.58	5.76	5.76	0.90799	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.90977	3.165	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	D	0.98532	1.0628	10	0.87932	D	0	.	17.4368	0.87554	0.0:0.0:1.0:0.0	.	144;144	P05106;Q2YFE1	ITB3_HUMAN;.	I	144;97	ENSP00000407801:M97I	ENSP00000262017:M144I	M	+	3	0	C17orf57	42716878	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.716000	0.92895	0.655000	0.94253	ATG		0.488	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		17	63	0	0	0	0.004007	0	17	63				
NPEPPS	9520	broad.mit.edu	37	17	45695735	45695735	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:45695735T>C	ENST00000322157.4	+	20	2552	c.2315T>C	c.(2314-2316)aTg>aCg	p.M772T	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.M768T|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.M692T	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	772					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CAAGCAGATATGCAAGAAGAG	0.398																																							uc002ilr.3		NA																	0					0						c.(2314-2316)ATG>ACG		aminopeptidase puromycin sensitive							89.0	86.0	87.0					17																	45695735		1829	4092	5921	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45695735T>C	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2315T>C	17.37:g.45695735T>C	ENSP00000320324:p.Met772Thr					NPEPPS_uc010wkt.1_Missense_Mutation_p.M768T|NPEPPS_uc010wku.1_Missense_Mutation_p.M736T|NPEPPS_uc010wkv.1_Missense_Mutation_p.M326T|NPEPPS_uc002ils.1_Missense_Mutation_p.M205T	p.M772T	NM_006310	NP_006301	P55786	PSA_HUMAN			20	2538	+			772					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.2315T>C	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993646	0.54041	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660;ENST00000528565	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	5.86	5.86	0.93980	.	0.079863	0.85682	D	0.000000	T	0.04137	0.0115	N	0.20766	0.605	0.80722	D	1	B;B;B	0.15141	0.012;0.006;0.012	B;B;B	0.10450	0.002;0.002;0.005	T	0.46693	-0.9173	10	0.11182	T	0.66	.	15.9122	0.79479	0.0:0.0:0.0:1.0	.	768;455;772	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	T	768;772;692;7	ENSP00000433287:M768T;ENSP00000320324:M772T;ENSP00000442461:M692T;ENSP00000433549:M7T	ENSP00000320324:M772T	M	+	2	0	NPEPPS	43050734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.018000	0.88722	2.237000	0.73441	0.528000	0.53228	ATG		0.398	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	39	0	0	0	0.00308	0	7	39				
HOXB1	3211	broad.mit.edu	37	17	46606916	46606917	+	Missense_Mutation	DNP	GT	GT	AG	rs200443029		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:46606916_46606917GT>AG	ENST00000239174.6	-	2	990_991	c.898_899AC>CT	c.(898-900)ACc>CTc	p.T300L	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	300					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTTCAGGAGGTGACAGAGCTG	0.663																																							uc002ink.1		NA																	0				ovary(1)	1						c.(898-900)ACC>CTC		homeobox B1																																				SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46606916_46606917GT>AG		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.898_899delinsAG	17.37:g.46606916_46606917delinsAG	ENSP00000355140:p.Thr300Leu						p.T300L	NM_002144	NP_002135	P14653	HXB1_HUMAN			2	904_905	-			300					Q4VB03	Missense_Mutation	DNP	ENST00000239174.6	37	c.898_899AC>CT	CCDS32675.1																																																																																				0.663	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			10	38	0	0	0	0.004672	0	10	38				
HOXB1	3211	broad.mit.edu	37	17	46608020	46608020	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:46608020C>A	ENST00000239174.6	-	1	339	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	HOXB1_ENST00000577092.1_Missense_Mutation_p.G83W	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	83					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.G83W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGAGCATACCCCGAGGGCGCG	0.652																																							uc002ink.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)GGG>TGG		homeobox B1							41.0	47.0	45.0					17																	46608020		2202	4298	6500	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608020C>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.247G>T	17.37:g.46608020C>A	ENSP00000355140:p.Gly83Trp						p.G83W	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	253	-			83					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.247G>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603314	0.46423	.	.	ENSG00000120094	ENST00000239174	D	0.89875	-2.58	4.57	4.57	0.56435	.	0.000000	0.44688	D	0.000440	D	0.90191	0.6934	L	0.43923	1.385	0.30033	N	0.813266	D	0.76494	0.999	D	0.65140	0.932	D	0.86106	0.1559	10	0.41790	T	0.15	.	10.7525	0.46217	0.0:0.9114:0.0:0.0886	.	83	P14653	HXB1_HUMAN	W	83	ENSP00000355140:G83W	ENSP00000355140:G83W	G	-	1	0	HOXB1	43963019	0.944000	0.32072	0.998000	0.56505	0.819000	0.46315	1.690000	0.37711	2.371000	0.80710	0.551000	0.68910	GGG		0.652	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			34	74	1	0	7.11191e-15	0.002836	1.23749e-14	34	74				
ITGA3	3675	broad.mit.edu	37	17	48148233	48148233	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:48148233G>T	ENST00000320031.8	+	5	1020	c.690G>T	c.(688-690)aaG>aaT	p.K230N	ITGA3_ENST00000544892.1_Missense_Mutation_p.K5N|ITGA3_ENST00000007722.7_Missense_Mutation_p.K230N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	230					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTCAGCGCAAGGAGTGGGACT	0.493																																							uc010dbl.2		NA																	0				ovary(2)|pancreas(1)	3						c.(688-690)AAG>AAT		integrin alpha 3 isoform a precursor							198.0	205.0	203.0					17																	48148233		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48148233G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.690G>T	17.37:g.48148233G>T	ENSP00000315190:p.Lys230Asn					ITGA3_uc010dbm.2_Missense_Mutation_p.K230N	p.K230N	NM_002204	NP_002195	P26006	ITA3_HUMAN			5	1154	+			230			FG-GAP 3.|Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.690G>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804465	0.50315	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.54675	0.56;0.56;0.56	5.69	-0.432	0.12291	.	0.467668	0.25897	N	0.027594	T	0.31040	0.0784	N	0.21194	0.64	0.32560	N	0.531172	P;B	0.43352	0.804;0.03	B;B	0.42386	0.386;0.008	T	0.45977	-0.9224	10	0.08381	T	0.77	.	7.5106	0.27571	0.5442:0.0:0.4558:0.0	.	230;230	P26006-1;P26006	.;ITA3_HUMAN	N	5;230;216;230	ENSP00000446133:K5N;ENSP00000007722:K230N;ENSP00000315190:K230N	ENSP00000007722:K230N	K	+	3	2	ITGA3	45503232	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	0.763000	0.26517	0.062000	0.16340	-0.140000	0.14226	AAG		0.493	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		42	278	1	0	6.4771e-29	0.010771	1.23999e-28	42	278				
WFIKKN2	124857	broad.mit.edu	37	17	48913470	48913470	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:48913470G>T	ENST00000311378.4	+	1	700	c.172G>T	c.(172-174)Gca>Tca	p.A58S	WFIKKN2_ENST00000426127.1_Intron	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	58	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGGGTGGACGCACAGAGCAC	0.667																																							uc002isv.3		NA																	0				ovary(2)|skin(1)	3						c.(172-174)GCA>TCA		WFIKKN2 protein							32.0	25.0	27.0					17																	48913470		2202	4300	6502	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48913470G>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.172G>T	17.37:g.48913470G>T	ENSP00000311184:p.Ala58Ser					WFIKKN2_uc010dbu.2_Intron	p.A58S	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	866	+			58			WAP.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.172G>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936373	0.92458	.	.	ENSG00000173714	ENST00000311378	T	0.71341	-0.56	5.39	5.39	0.77823	Whey acidic protein, 4-disulphide core (5);	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81600	-0.0859	10	0.33940	T	0.23	.	19.1574	0.93517	0.0:0.0:1.0:0.0	.	58	Q8TEU8	WFKN2_HUMAN	S	58	ENSP00000311184:A58S	ENSP00000311184:A58S	A	+	1	0	WFIKKN2	46268469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.525000	0.85131	0.655000	0.94253	GCA		0.667	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		12	11	1	0	5.50884e-06	0.001368	6.94735e-06	12	11				
DGKE	8526	broad.mit.edu	37	17	54912249	54912249	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:54912249G>T	ENST00000284061.3	+	2	273	c.93G>T	c.(91-93)ctG>ctT	p.L31L	DGKE_ENST00000572810.1_Silent_p.L31L|C17orf67_ENST00000397861.2_5'Flank|C17orf67_ENST00000487705.1_Intron|C17orf67_ENST00000575658.1_5'Flank|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	31					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GCTCGGTCCTGCTGCCGGTGT	0.677																																							uc002iur.2		NA																	0				breast(2)	2						c.(91-93)CTG>CTT		diacylglycerol kinase epsilon							75.0	98.0	90.0					17																	54912249		2203	4300	6503	SO:0001819	synonymous_variant	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912249G>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.93G>T	17.37:g.54912249G>T						DGKE_uc002ius.1_Silent_p.L31L|C17orf67_uc002iuq.2_5'Flank	p.L31L	NM_003647	NP_003638	P52429	DGKE_HUMAN			2	273	+	Breast(9;3.59e-07)		31			Helical; (Potential).		Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	37	c.93G>T	CCDS11590.1																																																																																				0.677	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		32	177	1	0	4.74835e-14	0.010818	8.05609e-14	32	177				
OR4D1	26689	broad.mit.edu	37	17	56233080	56233080	+	Missense_Mutation	SNP	G	G	T	rs571376397		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:56233080G>T	ENST00000268912.5	+	1	587	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	189					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGACTTGCCTGCACTGATACC	0.488																																							uc010wno.1		NA																	0				ovary(1)	1						c.(565-567)TGC>TTC		olfactory receptor, family 4, subfamily D,							146.0	139.0	141.0					17																	56233080		2203	4300	6503	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56233080G>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.566G>T	17.37:g.56233080G>T	ENSP00000365451:p.Cys189Phe					MSX2P1_uc002ivn.2_5'Flank	p.C189F	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	566	+			189			Extracellular (Potential).		B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.566G>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	g	14.78	2.638063	0.47153	.	.	ENSG00000141194	ENST00000268912	T	0.00460	7.27	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.03390	0.0098	H	0.98068	4.14	0.51233	D	0.99991	D	0.89917	1.0	D	0.97110	1.0	T	0.01805	-1.1270	10	0.87932	D	0	-23.4734	17.178	0.86846	0.0:0.0:1.0:0.0	.	189	Q15615	OR4D1_HUMAN	F	189	ENSP00000365451:C189F	ENSP00000365451:C189F	C	+	2	0	OR4D1	53588079	1.000000	0.71417	0.998000	0.56505	0.365000	0.29674	5.516000	0.67055	2.652000	0.90054	0.543000	0.68304	TGC		0.488	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			21	98	1	0	8.10497e-08	0.010504	1.13217e-07	21	98				
OR4D2	124538	broad.mit.edu	37	17	56247175	56247175	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:56247175C>A	ENST00000545221.1	+	1	159	c.159C>A	c.(157-159)tcC>tcA	p.S53S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCTCTGATTCCCAGCTCCACA	0.488																																							uc010wnp.1		NA																	0				ovary(1)|breast(1)	2						c.(157-159)TCC>TCA		olfactory receptor, family 4, subfamily D,							209.0	188.0	195.0					17																	56247175		2203	4300	6503	SO:0001819	synonymous_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247175C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.159C>A	17.37:g.56247175C>A							p.S53S	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	159	+			53			Cytoplasmic (Potential).		Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	c.159C>A	CCDS32688.1																																																																																				0.488	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			22	151	1	0	1.66031e-10	0.003954	2.55432e-10	22	151				
LPO	4025	broad.mit.edu	37	17	56329618	56329618	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:56329618A>G	ENST00000262290.4	+	8	1172	c.856A>G	c.(856-858)Act>Gct	p.T286A	LPO_ENST00000582328.1_Missense_Mutation_p.T203A|LPO_ENST00000421678.2_Missense_Mutation_p.T203A|LPO_ENST00000543544.1_Missense_Mutation_p.T227A	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	286					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CGTCTGCCCCACTCCACCCTA	0.597																																							uc002ivt.2		NA																	0				ovary(1)|breast(1)	2						c.(856-858)ACT>GCT		lactoperoxidase isoform 1 preproprotein							95.0	84.0	88.0					17																	56329618		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56329618A>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.856A>G	17.37:g.56329618A>G	ENSP00000262290:p.Thr286Ala					LPO_uc010wns.1_Missense_Mutation_p.T227A|LPO_uc010dcp.2_Missense_Mutation_p.T203A|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'UTR	p.T286A	NM_006151	NP_006142	P22079	PERL_HUMAN			8	1172	+			286					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.856A>G	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	A	6.304	0.424201	0.11928	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.68765	-0.35;-0.35;-0.35	5.3	3.0	0.34707	.	0.363749	0.32028	N	0.006698	T	0.59985	0.2234	M	0.79475	2.455	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.12837	0.001;0.008	T	0.53265	-0.8463	10	0.37606	T	0.19	-0.3383	2.8476	0.05548	0.5389:0.2556:0.0819:0.1236	.	203;286	E7EMJ3;P22079	.;PERL_HUMAN	A	286;203;227;31	ENSP00000262290:T286A;ENSP00000400245:T203A;ENSP00000445344:T227A	ENSP00000262290:T286A	T	+	1	0	LPO	53684617	0.040000	0.19996	0.976000	0.42696	0.291000	0.27294	0.258000	0.18387	0.877000	0.35895	0.533000	0.62120	ACT		0.597	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			22	37	0	0	0	0.012319	0	22	37				
HSF5	124535	broad.mit.edu	37	17	56544284	56544284	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:56544284G>T	ENST00000323777.3	-	3	1091	c.982C>A	c.(982-984)Ccc>Acc	p.P328T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	328					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGCATTGGGAGTGACACAA	0.443																																							uc002iwi.1		NA																	0				ovary(2)|skin(1)	3						c.(982-984)CCC>ACC		heat shock transcription factor family member 5							183.0	147.0	160.0					17																	56544284		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56544284G>T	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.982C>A	17.37:g.56544284G>T	ENSP00000313243:p.Pro328Thr						p.P328T	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			3	1106	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		328					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.982C>A	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328994	0.81690	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.72394	-0.65	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	T	0.76821	0.4041	L	0.27053	0.805	0.41304	D	0.987062	D	0.89917	1.0	D	0.83275	0.996	T	0.79376	-0.1829	10	0.87932	D	0	.	16.8105	0.85717	0.0:0.0:1.0:0.0	.	328	Q4G112	HSF5_HUMAN	T	228;328	ENSP00000313243:P328T	ENSP00000313243:P328T	P	-	1	0	HSF5	53899283	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.954000	0.70298	2.746000	0.94184	0.591000	0.81541	CCC		0.443	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		20	69	1	0	7.87624e-14	0.00278	1.3323e-13	20	69				
DDX42	11325	broad.mit.edu	37	17	61898278	61898278	+	IGR	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:61898278G>A	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.P665S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGGCCTTCGGGGTCCAGTATC	0.473																																							uc002jbz.2		NA																	0				ovary(1)	1						c.(1993-1995)CCC>TCC		FtsJ homolog 3							84.0	82.0	82.0					17																	61898278		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61898278G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61898278G>A						FTSJ3_uc002jca.2_Missense_Mutation_p.P665S	p.P665S	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			17	2071	-			665					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1993C>T	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437135	0.62955	.	.	ENSG00000108592	ENST00000427159	T	0.30714	1.52	5.03	2.97	0.34412	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.238609	0.34828	N	0.003656	T	0.25568	0.0622	L	0.52126	1.63	0.39483	D	0.967915	B	0.32653	0.379	B	0.31442	0.13	T	0.05131	-1.0904	10	0.13853	T	0.58	-2.8343	13.1177	0.59309	0.0:0.3083:0.6917:0.0	.	665	Q8IY81	RRMJ3_HUMAN	S	665	ENSP00000396673:P665S	ENSP00000396673:P665S	P	-	1	0	FTSJ3	59252010	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	3.038000	0.49783	0.660000	0.30964	-0.300000	0.09419	CCC		0.473	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		27	55	0	0	0	0.009535	0	27	55				
SCN4A	6329	broad.mit.edu	37	17	62018185	62018185	+	Silent	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:62018185G>C	ENST00000435607.1	-	24	5533	c.5457C>G	c.(5455-5457)ccC>ccG	p.P1819P	SCN4A_ENST00000578147.1_Silent_p.P1819P	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1819					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGGAGGGGCGGGAGGCCAGG	0.672																																							uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5455-5457)CCC>CCG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						33.0	42.0	39.0					17																	62018185		2022	4181	6203	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018185G>C	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5457C>G	17.37:g.62018185G>C							p.P1819P	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	5534	-			1819					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5457C>G	CCDS45761.1																																																																																				0.672	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		14	51	0	0	0	0.00245	0	14	51				
DDX5	1655	broad.mit.edu	37	17	62496295	62496295	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:62496295G>C	ENST00000225792.5	-	13	1992	c.1591C>G	c.(1591-1593)Cag>Gag	p.Q531E	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.Q531E|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.Q452E	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	531	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ACACCATTCTGAGTTTTTGCC	0.418			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	NSCLC(22;406 813 4871 19580 40307)	uc002jek.2		NA		Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(1591-1593)CAG>GAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							135.0	140.0	138.0					17																	62496295		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496295G>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1591C>G	17.37:g.62496295G>C	ENSP00000225792:p.Gln531Glu					DDX5_uc010deh.2_Missense_Mutation_p.Q531E|DDX5_uc002jej.2_Missense_Mutation_p.Q426E|DDX5_uc010wqa.1_Missense_Mutation_p.Q452E	p.Q531E	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1838	-	Breast(5;2.15e-14)		531					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.1591C>G	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588744	0.13812	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.56	3.55	0.40652	.	0.504623	0.23003	N	0.053049	T	0.31638	0.0803	N	0.24115	0.695	0.58432	D	0.999999	B;B;B	0.30146	0.213;0.27;0.27	B;B;B	0.25987	0.065;0.056;0.056	T	0.13019	-1.0525	9	0.02654	T	1	-2.6624	11.6976	0.51553	0.0672:0.1244:0.8084:0.0	.	452;531;531	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	E	531;461;520	.	ENSP00000225792:Q520E	Q	-	1	0	DDX5	59926757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	0.824000	0.34613	0.586000	0.80456	CAG		0.418	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		30	126	0	0	0	0.002836	0	30	126				
CEP112	201134	broad.mit.edu	37	17	63847968	63847968	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:63847968T>A	ENST00000392769.2	-	21	2566	c.2348A>T	c.(2347-2349)gAg>gTg	p.E783V	CEP112_ENST00000535342.2_Missense_Mutation_p.E783V|CEP112_ENST00000537949.1_Missense_Mutation_p.E741V|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000541355.1_Missense_Mutation_p.E418V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	783					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTTTTCAGCTCTATTTTCAT	0.378																																							uc002jfl.2		NA																	0					0						c.(2347-2349)GAG>GTG		coiled-coil domain containing 46 isoform a							201.0	187.0	192.0					17																	63847968		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63847968T>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2348A>T	17.37:g.63847968T>A	ENSP00000376522:p.Glu783Val					CCDC46_uc010deo.2_Missense_Mutation_p.E525V|CCDC46_uc002jfm.2_Missense_Mutation_p.E783V|CCDC46_uc010dep.2_Missense_Mutation_p.E741V	p.E783V	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		21	2567	-			783			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2348A>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557522	0.65425	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.53857	0.76;0.76;0.6;0.76	5.05	5.05	0.67936	.	0.060984	0.64402	D	0.000008	T	0.59797	0.2220	L	0.40543	1.245	0.44214	D	0.99704	D;P;D	0.64830	0.982;0.95;0.994	P;P;P	0.57776	0.648;0.648;0.827	T	0.63594	-0.6602	10	0.66056	D	0.02	-17.2175	14.7888	0.69824	0.0:0.0:0.0:1.0	.	741;741;783	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	V	783;783;418;741	ENSP00000442784:E783V;ENSP00000376522:E783V;ENSP00000443711:E418V;ENSP00000440775:E741V	ENSP00000376522:E783V	E	-	2	0	CEP112	61278430	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	6.440000	0.73435	1.900000	0.55004	0.454000	0.30748	GAG		0.378	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		26	111	0	0	0	0.00632	0	26	111				
CEP112	201134	broad.mit.edu	37	17	64125897	64125897	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:64125897G>A	ENST00000392769.2	-	6	827	c.609C>T	c.(607-609)gaC>gaT	p.D203D	CEP112_ENST00000535342.2_Silent_p.D203D|CEP112_ENST00000537949.1_Silent_p.D203D	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	203					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAGCTTCAATGTCACTATCAT	0.313																																							uc002jfl.2		NA																	0					0						c.(607-609)GAC>GAT		coiled-coil domain containing 46 isoform a							93.0	94.0	93.0					17																	64125897		2203	4296	6499	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:64125897G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.609C>T	17.37:g.64125897G>A						CCDC46_uc002jfm.2_Silent_p.D203D|CCDC46_uc010dep.2_Silent_p.D203D	p.D203D	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		6	828	-			203					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.609C>T	CCDS32710.1																																																																																				0.313	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		9	53	0	0	0	0.004482	0	9	53				
WIPI1	55062	broad.mit.edu	37	17	66440643	66440643	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:66440643T>G	ENST00000262139.5	-	4	420	c.421A>C	c.(421-423)Aac>Cac	p.N141H	WIPI1_ENST00000546360.1_Missense_Mutation_p.N59H|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	141					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGTTGGGTTTGCAGGAATA	0.423																																							uc010dey.2		NA																	0					0						c.(421-423)AAC>CAC		WD repeat domain, phosphoinositide interacting							139.0	128.0	132.0					17																	66440643		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66440643T>G		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.421A>C	17.37:g.66440643T>G	ENSP00000262139:p.Asn141His					WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.N59H|WIPI1_uc002jhe.3_RNA	p.N141H	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			4	512	-			141					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.421A>C	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351175	0.82132	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.59638	0.25;2.92	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87698	0.2558	10	0.87932	D	0	-28.9568	15.1468	0.72662	0.0:0.0:0.0:1.0	.	141	Q5MNZ9	WIPI1_HUMAN	H	141;59	ENSP00000262139:N141H;ENSP00000437345:N59H	ENSP00000262139:N141H	N	-	1	0	WIPI1	63952238	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.243000	0.78219	1.966000	0.57179	0.459000	0.35465	AAC		0.423	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		31	44	0	0	0	0.008361	0	31	44				
ABCA8	10351	broad.mit.edu	37	17	66925834	66925834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:66925834C>T	ENST00000269080.2	-	7	944	c.807G>A	c.(805-807)tgG>tgA	p.W269*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.W269*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.W269*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	269					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGCAAACCCCAGGAGAGCC	0.363																																							uc002jhp.2		NA																	0				ovary(2)|skin(1)	3						c.(805-807)TGG>TGA		ATP-binding cassette, sub-family A member 8							75.0	71.0	72.0					17																	66925834		2203	4300	6503	SO:0001587	stop_gained	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925834C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.807G>A	17.37:g.66925834C>T	ENSP00000269080:p.Trp269*					ABCA8_uc002jhq.2_Nonsense_Mutation_p.W269*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.W269*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.W208*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.W269*	p.W269*	NM_007168	NP_009099	O94911	ABCA8_HUMAN			7	986	-	Breast(10;4.56e-13)		269			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	ENST00000269080.2	37	c.807G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	39	7.538120	0.98345	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.75	4.75	0.60458	.	0.000000	0.48286	D	0.000189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8205	0.85744	0.0:1.0:0.0:0.0	.	.	.	.	X	269;269;208	.	ENSP00000269080:W269X	W	-	3	0	ABCA8	64437429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.604000	0.67626	2.627000	0.88993	0.591000	0.81541	TGG		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		7	13	0	0	0	0.001984	0	7	13				
MAP2K6	5608	broad.mit.edu	37	17	67501928	67501928	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:67501928G>T	ENST00000590474.1	+	2	311	c.24G>T	c.(22-24)aaG>aaT	p.K8N	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	8	D domain. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TAGGCAAGAAGCGAAACCCTG	0.433																																							uc002jij.2		NA																	0				lung(2)|stomach(1)|ovary(1)|pancreas(1)	5						c.(22-24)AAG>AAT		mitogen-activated protein kinase kinase 6							138.0	138.0	138.0					17																	67501928		2203	4300	6503	SO:0001583	missense	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67501928G>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.24G>T	17.37:g.67501928G>T	ENSP00000468348:p.Lys8Asn					MAP2K6_uc002jii.2_Missense_Mutation_p.K8N|MAP2K6_uc002jik.2_Missense_Mutation_p.K38N	p.K8N	NM_002758	NP_002749	P52564	MP2K6_HUMAN			2	312	+	Breast(10;6.05e-10)		8						Missense_Mutation	SNP	ENST00000590474.1	37	c.24G>T	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981568	0.74474	.	.	ENSG00000108984	ENST00000359094	T	0.24350	1.86	5.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.66939	2.045	0.80722	D	1	D;D;D	0.61080	0.98;0.989;0.989	P;P;P	0.53549	0.521;0.729;0.729	T	0.16158	-1.0412	9	.	.	.	-23.8595	10.495	0.44772	0.0954:0.0:0.9046:0.0	.	38;8;8	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	N	8	ENSP00000351997:K8N	.	K	+	3	2	MAP2K6	65013523	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.654000	0.46699	1.363000	0.46019	0.655000	0.94253	AAG		0.433	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		34	64	1	0	5.43694e-19	0.005524	9.90653e-19	34	64				
KCNJ2	3759	broad.mit.edu	37	17	68172348	68172348	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:68172348A>T	ENST00000243457.3	+	2	1551	c.1168A>T	c.(1168-1170)Agt>Tgt	p.S390C	KCNJ2_ENST00000535240.1_Missense_Mutation_p.S390C	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	390					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGAAGACGACAGTGAAAATGG	0.463																																							uc010dfg.2		NA																	0					0						c.(1168-1170)AGT>TGT		potassium inwardly-rectifying channel J2							132.0	129.0	130.0					17																	68172348		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172348A>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.1168A>T	17.37:g.68172348A>T	ENSP00000243457:p.Ser390Cys					KCNJ2_uc002jir.2_Missense_Mutation_p.S390C	p.S390C	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1569	+	Breast(10;1.64e-08)		390			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.1168A>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372782	0.24857	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.88354	-2.37;-2.37	6.07	6.07	0.98685	.	0.089716	0.85682	D	0.000000	D	0.87164	0.6109	L	0.29908	0.895	0.41763	D	0.98972	B	0.23490	0.086	B	0.40038	0.317	T	0.82659	-0.0348	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	390	P63252	IRK2_HUMAN	C	390	ENSP00000441848:S390C;ENSP00000243457:S390C	.	S	+	1	0	KCNJ2	65683943	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	7.473000	0.81007	2.326000	0.78906	0.533000	0.62120	AGT		0.463	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		23	89	0	0	0	0.002299	0	23	89				
GPR142	350383	broad.mit.edu	37	17	72367926	72367926	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:72367926C>A	ENST00000335666.4	+	4	624	c.576C>A	c.(574-576)tcC>tcA	p.S192S		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	192						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGAGGCCCTCCTACTACTACC	0.652																																							uc010wqy.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(574-576)TCC>TCA		G protein-coupled receptor 142							58.0	51.0	53.0					17																	72367926		2203	4300	6503	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72367926C>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.576C>A	17.37:g.72367926C>A						GPR142_uc010wqx.1_Silent_p.S104S	p.S192S	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	576	+			192			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.576C>A	CCDS11698.1																																																																																				0.652	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		10	18	1	0	3.07112e-06	0.010729	3.94924e-06	10	18				
SRSF2	6427	broad.mit.edu	37	17	74732406	74732406	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:74732406C>T	ENST00000392485.2	-	2	675	c.503G>A	c.(502-504)aGg>aAg	p.R168K	MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000593181.1_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.R156K|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.R168K|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	168	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGACTTGGACCTTCGTGCGGA	0.617			Mis		"""MDS, CLL"""																																		uc002jsv.2		NA		Dom	yes		17	17q25	6427		serine/arginine-rich splicing factor 2			L					0					0						c.(502-504)AGG>AAG		splicing factor, arginine/serine-rich 2							119.0	93.0	102.0					17																	74732406		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732406C>T	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.503G>A	17.37:g.74732406C>T	ENSP00000376276:p.Arg168Lys					SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R168K|SFRS2_uc010wtg.1_Missense_Mutation_p.R156K|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	p.R168K	NM_003016	NP_003007	Q01130	SRSF2_HUMAN			2	673	-			168			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.503G>A	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.574069|3.574069	0.65765|0.65765	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.|T	.|0.16196	.|2.36	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.138469	.|0.46758	.|D	.|0.000270	T|T	0.14227|0.14227	0.0344|0.0344	L|L	0.28400|0.28400	0.85|0.85	0.80722|0.80722	D|D	1|1	.|P;P	.|0.40476	.|0.718;0.718	.|B;B	.|0.40534	.|0.332;0.332	T|T	0.02150|0.02150	-1.1205|-1.1205	6|10	0.23302|0.05620	T|T	0.38|0.96	.|.	18.9804|18.9804	0.92754|0.92754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;168	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	S|K	118|168;195;156;148	.|ENSP00000376276:R168K	ENSP00000391278:G118S|ENSP00000350877:R156K	G|R	-|-	1|2	0|0	SRSF2|SRSF2	72244001|72244001	0.108000|0.108000	0.22018|0.22018	0.245000|0.245000	0.24217|0.24217	0.961000|0.961000	0.63080|0.63080	1.929000|1.929000	0.40114|0.40114	2.459000|2.459000	0.83118|0.83118	0.563000|0.563000	0.77884|0.77884	GGT|AGG		0.617	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		21	104	0	0	0	0.002299	0	21	104				
SEPT9	10801	broad.mit.edu	37	17	75303255	75303255	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:75303255A>T	ENST00000427177.1	+	2	178	c.52A>T	c.(52-54)Agg>Tgg	p.R18W	SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000449803.2_De_novo_Start_InFrame|SEPT9_ENST00000431235.2_De_novo_Start_InFrame	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	18					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCGGCTCCGGAGGCTTGGTGA	0.627																																							uc002jts.3		NA																	0				breast(2)|ovary(1)	3						c.(52-54)AGG>TGG		septin 9 isoform a							89.0	88.0	88.0					17																	75303255		1568	3582	5150	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding	g.chr17:75303255A>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.52A>T	17.37:g.75303255A>T	ENSP00000391249:p.Arg18Trp					SEPT9_uc010wtk.1_Intron|SEPT9_uc002jtt.3_5'UTR	p.R18W	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	178	+			18					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.52A>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	a	19.16	3.773608	0.69992	.	.	ENSG00000184640	ENST00000427177	T	0.38722	1.12	3.66	3.66	0.41972	.	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.80722	D	1	P	0.39131	0.661	B	0.42319	0.383	T	0.14117	-1.0484	9	0.87932	D	0	.	8.9866	0.35997	1.0:0.0:0.0:0.0	.	18	Q9UHD8	SEPT9_HUMAN	W	18	ENSP00000391249:R18W	ENSP00000391249:R18W	R	+	1	2	SEPT9	72814850	1.000000	0.71417	0.996000	0.52242	0.752000	0.42762	1.118000	0.31246	1.905000	0.55150	0.454000	0.30748	AGG		0.627	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		42	84	0	0	0	0.013114	0	42	84				
TMC8	147138	broad.mit.edu	37	17	76135285	76135285	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:76135285C>T	ENST00000318430.5	+	15	2240	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A	TMC8_ENST00000589691.1_Silent_p.A399A|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	622					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			AGGCCAATGCCAGGGCCATCC	0.647																																							uc002jup.2		NA																	0					0						c.(1864-1866)GCC>GCT		transmembrane channel-like 8							81.0	68.0	73.0					17																	76135285		2203	4300	6503	SO:0001819	synonymous_variant	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76135285C>T	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1866C>T	17.37:g.76135285C>T						TMC8_uc002juq.2_Silent_p.A399A|TMC8_uc002jur.1_3'UTR	p.A622A	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		15	2248	+			622			Cytoplasmic (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.1866C>T	CCDS32749.1																																																																																				0.647	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			7	79	0	0	0	0.004482	0	7	79				
RNF213	57674	broad.mit.edu	37	17	78316967	78316967	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:78316967A>G	ENST00000582970.1	+	27	6168	c.6025A>G	c.(6025-6027)Atg>Gtg	p.M2009V	RNF213_ENST00000336301.6_Missense_Mutation_p.M82V|RNF213_ENST00000508628.2_Missense_Mutation_p.M2058V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2009					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACGACAAAATGAAGATGCA	0.478																																							uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(244-246)ATG>GTG		ring finger protein 213							82.0	77.0	78.0					17																	78316967		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78316967A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6025A>G	17.37:g.78316967A>G	ENSP00000464087:p.Met2009Val						p.M82V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		2	467	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.244A>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	7.256	0.604150	0.14002	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21543	2.0	5.94	-0.156	0.13391	.	0.093561	0.44688	D	0.000424	T	0.10423	0.0255	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21280	-1.0250	10	0.72032	D	0.01	.	7.1763	0.25747	0.315:0.5445:0.0:0.1405	.	82	Q63HN8	RN213_HUMAN	V	2009;2058;82	ENSP00000338218:M82V	ENSP00000338218:M82V	M	+	1	0	RNF213	75931562	0.006000	0.16342	0.001000	0.08648	0.000000	0.00434	0.076000	0.14712	0.056000	0.16144	-0.813000	0.03139	ATG		0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	37	0	0	0	0.001855	0	9	37				
CHMP6	79643	broad.mit.edu	37	17	78968447	78968447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:78968447G>T	ENST00000325167.5	+	2	208	c.130G>T	c.(130-132)Gag>Tag	p.E44*		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	44					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTGGAGCGCGAGCGCGCCCT	0.716																																							uc002jyw.3		NA																	0				ovary(1)	1						c.(130-132)GAG>TAG		chromatin modifying protein 6							16.0	13.0	14.0					17																	78968447		2159	4266	6425	SO:0001587	stop_gained	79643				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	g.chr17:78968447G>T	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.130G>T	17.37:g.78968447G>T	ENSP00000317468:p.Glu44*						p.E44*	NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		2	208	+	all_neural(118;0.101)		44			Potential.		A8K7U0|Q53FU4|Q9HAE8	Nonsense_Mutation	SNP	ENST00000325167.5	37	c.130G>T	CCDS11774.1	.	.	.	.	.	.	.	.	.	.	.	38	6.806771	0.97853	.	.	ENSG00000176108	ENST00000325167	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.9258	14.78	0.69760	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000317468:E44X	E	+	1	0	CHMP6	76583042	1.000000	0.71417	0.951000	0.38953	0.886000	0.51366	7.035000	0.76517	1.987000	0.57996	0.511000	0.50034	GAG		0.716	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1	NM_024591		7	8	1	0	2.7689e-08	0.001984	3.94231e-08	7	8				
C17orf70	80233	broad.mit.edu	37	17	79516286	79516286	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:79516286C>T	ENST00000327787.8	-	4	1395	c.1349G>A	c.(1348-1350)aGt>aAt	p.S450N	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Missense_Mutation_p.S299N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	450					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGACCTGCACTCTCTGTGGT	0.607																																							uc002kaq.2		NA																	0				ovary(1)|skin(1)	2						c.(1348-1350)AGT>AAT		Fanconi anemia core complex 100 kDa subunit							58.0	48.0	52.0					17																	79516286		2202	4300	6502	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79516286C>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1349G>A	17.37:g.79516286C>T	ENSP00000333283:p.Ser450Asn					C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.S299N	p.S450N	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		4	1404	-	all_neural(118;0.0878)|Melanoma(429;0.242)		450					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1349G>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	7.083	0.570718	0.13560	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246	T;T	0.29655	1.56;1.56	5.17	-0.804	0.10882	.	1.216530	0.05776	N	0.607822	T	0.13286	0.0322	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29671	-1.0004	10	0.11485	T	0.65	.	9.6586	0.39941	0.0:0.3763:0.0:0.6237	.	450	Q0VG06	FP100_HUMAN	N	450;299;299	ENSP00000333283:S450N;ENSP00000440151:S299N	ENSP00000333283:S450N	S	-	2	0	C17orf70	77126728	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.262000	0.18460	-0.208000	0.10171	-0.806000	0.03193	AGT		0.607	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		10	46	0	0	0	0.006214	0	10	46				
UTS2R	2837	broad.mit.edu	37	17	80332573	80332573	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:80332573G>T	ENST00000313135.2	+	1	421	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	125					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGGCTGCCGCGTGCTCTTCGG	0.657																																							uc010wvl.1		NA																	0				breast(1)	1						c.(373-375)GTG>TTG		urotensin 2 receptor							54.0	42.0	46.0					17																	80332573		2203	4300	6503	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332573G>T	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.373G>T	17.37:g.80332573G>T	ENSP00000323516:p.Val125Leu						p.V125L	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	373	+	Breast(20;0.00106)|all_neural(118;0.0804)		125			Helical; Name=3; (Potential).		B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.373G>T	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	G	8.112	0.778980	0.16120	.	.	ENSG00000181408	ENST00000313135	T	0.35421	1.31	5.13	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.265556	0.35555	N	0.003121	T	0.15392	0.0371	N	0.05487	-0.04	0.39485	D	0.967957	B	0.16166	0.016	B	0.22880	0.042	T	0.07385	-1.0775	10	0.22706	T	0.39	.	3.985	0.09511	0.2699:0.184:0.5461:0.0	.	125	Q9UKP6	UR2R_HUMAN	L	125	ENSP00000323516:V125L	ENSP00000323516:V125L	V	+	1	0	UTS2R	77925862	0.961000	0.32948	0.253000	0.24343	0.636000	0.38137	2.069000	0.41481	1.281000	0.44480	0.655000	0.94253	GTG		0.657	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		14	33	1	0	4.3838e-07	0.001855	5.8727e-07	14	33				
METTL4	64863	broad.mit.edu	37	18	2555033	2555033	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:2555033C>A	ENST00000574538.1	-	4	1239	c.464G>T	c.(463-465)aGg>aTg	p.R155M	snoU109_ENST00000459316.1_RNA|METTL4_ENST00000319888.6_Missense_Mutation_p.R155M	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	155					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AATCAGCTCCCTGATCTGTAA	0.338																																							uc002klh.3		NA																	0				kidney(1)|skin(1)	2						c.(463-465)AGG>ATG		methyltransferase like 4							99.0	117.0	111.0					18																	2555033		2201	4297	6498	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2555033C>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.464G>T	18.37:g.2555033C>A	ENSP00000458290:p.Arg155Met					METTL4_uc010dkj.2_Translation_Start_Site	p.R155M	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN			4	1244	-			155					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.464G>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709480	0.48517	.	.	ENSG00000101574	ENST00000319888	T	0.34859	1.34	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	M	0.72894	2.215	0.44024	D	0.996748	D	0.89917	1.0	D	0.68192	0.956	T	0.59467	-0.7449	10	0.72032	D	0.01	-1.6729	10.6671	0.45736	0.0:0.7997:0.1313:0.069	.	155	Q8N3J2	METL4_HUMAN	M	155	ENSP00000320349:R155M	ENSP00000320349:R155M	R	-	2	0	METTL4	2545033	0.992000	0.36948	0.993000	0.49108	0.757000	0.42996	3.061000	0.49963	1.465000	0.48006	0.655000	0.94253	AGG		0.338	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		26	50	1	0	7.16444e-05	0.003954	8.55305e-05	26	50				
EPB41L3	23136	broad.mit.edu	37	18	5397300	5397300	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:5397300C>G	ENST00000341928.2	-	18	2938	c.2598G>C	c.(2596-2598)gcG>gcC	p.A866A	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Silent_p.A163A|EPB41L3_ENST00000400111.3_Silent_p.A644A|EPB41L3_ENST00000540638.2_Silent_p.A644A|EPB41L3_ENST00000342933.3_Silent_p.A866A|EPB41L3_ENST00000544123.1_Silent_p.A697A|EPB41L3_ENST00000542146.1_Silent_p.A171A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	866	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATCCCCACTCGCGTGCACCA	0.617																																							uc002kmt.1		NA																	0				ovary(5)	5						c.(2596-2598)GCG>GCC		erythrocyte membrane protein band 4.1-like 3							67.0	63.0	65.0					18																	5397300		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397300C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2598G>C	18.37:g.5397300C>G						EPB41L3_uc010wzh.1_Silent_p.A697A|EPB41L3_uc002kmu.1_Silent_p.A644A|EPB41L3_uc010dkq.1_Silent_p.A535A|EPB41L3_uc002kms.1_Silent_p.A101A|EPB41L3_uc010wze.1_Silent_p.A171A|EPB41L3_uc010wzf.1_Silent_p.A163A|EPB41L3_uc010wzg.1_Silent_p.A138A|EPB41L3_uc010dkr.2_Silent_p.A258A	p.A866A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2684	-			866			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2598G>C	CCDS11838.1																																																																																				0.617	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		8	45	0	0	0	0.004482	0	8	45				
TXNDC2	84203	broad.mit.edu	37	18	9887046	9887046	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:9887046G>A	ENST00000306084.6	+	2	769	c.570G>A	c.(568-570)aaG>aaA	p.K190K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Silent_p.K123K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	190	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCCAATCCAAGAAGGAGGACC	0.572																																							uc002koi.3		NA																	0				ovary(1)|pancreas(1)	2						c.(568-570)AAG>AAA		thioredoxin domain-containing 2 isoform 2							136.0	138.0	137.0					18																	9887046		2203	4300	6503	SO:0001819	synonymous_variant	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887046G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.570G>A	18.37:g.9887046G>A						TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Silent_p.K123K	p.K190K	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1019	+			190			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.570G>A	CCDS42414.1																																																																																				0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			29	51	0	0	0	0.008361	0	29	51				
PIEZO2	63895	broad.mit.edu	37	18	10681675	10681675	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:10681675C>A	ENST00000503781.3	-	47	7422	c.7423G>T	c.(7423-7425)Gct>Tct	p.A2475S	PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000285141.4_Missense_Mutation_p.A267S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.A432S|PIEZO2_ENST00000302079.6_Missense_Mutation_p.A2412S|PIEZO2_ENST00000580640.1_Missense_Mutation_p.A2500S	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2475					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CTAGAAAAAGCTTGTATAAAT	0.393																																							uc002kor.3		NA																	0				ovary(1)	1						c.(1294-1296)GCT>TCT		family with sequence similarity 38, member B							156.0	154.0	155.0					18																	10681675		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10681675C>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7423G>T	18.37:g.10681675C>A	ENSP00000421377:p.Ala2475Ser					FAM38B_uc002koq.2_Missense_Mutation_p.A267S	p.A432S	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			9	1434	-			2475					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.1294G>T		.	.	.	.	.	.	.	.	.	.	C	1.382	-0.583197	0.03827	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.70869	-0.52;-0.52	5.26	-6.3	0.02007	.	1.864860	0.02139	N	0.057036	T	0.39937	0.1097	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41998	-0.9477	10	0.09084	T	0.74	.	5.8549	0.18714	0.4411:0.183:0.0:0.3759	.	369	D6RFZ0	.	S	369;2475;432;267	ENSP00000443129:A432S;ENSP00000285141:A267S	ENSP00000285141:A267S	A	-	1	0	FAM38B	10671675	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.680000	0.00837	-1.348000	0.02205	-0.961000	0.02630	GCT		0.393	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		10	42	1	0	7.48243e-07	0.006214	9.9376e-07	10	42				
CABYR	26256	broad.mit.edu	37	18	21735744	21735744	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:21735744T>C	ENST00000399496.3	+	4	444	c.279T>C	c.(277-279)tcT>tcC	p.S93S	CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000415309.2_Silent_p.S93S|CABYR_ENST00000399499.1_Silent_p.S93S|CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000581397.1_Silent_p.S93S	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	93					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGTAGAATCTAAAGTACCTA	0.378																																							uc002kux.2		NA																	0					0						c.(277-279)TCT>TCC		calcium-binding tyrosine							88.0	82.0	84.0					18																	21735744		2203	4300	6503	SO:0001819	synonymous_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21735744T>C	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.279T>C	18.37:g.21735744T>C						CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.2_Silent_p.S93S|CABYR_uc002kuz.2_Silent_p.S93S|CABYR_uc002kva.2_Silent_p.S75S|CABYR_uc002kvb.2_5'UTR|CABYR_uc002kvc.2_Silent_p.S93S|CABYR_uc010dlw.2_RNA	p.S93S	NM_012189	NP_036321	O75952	CABYR_HUMAN			4	431	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		93					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399496.3	37	c.279T>C	CCDS42420.1																																																																																				0.378	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		27	26	0	0	0	0.00632	0	27	26				
CDH2	1000	broad.mit.edu	37	18	25565563	25565564	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:25565563_25565564CC>AA	ENST00000269141.3	-	12	2326_2327	c.1903_1904GG>TT	c.(1903-1905)GGa>TTa	p.G635L	CDH2_ENST00000399380.3_Missense_Mutation_p.G604L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	635	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCAAATGGTCCAGCATTTGGA	0.381																																							uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(1903-1905)GGA>TTA		cadherin 2, type 1 preproprotein																																				SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565563_25565564CC>AA	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1903_1904delinsAA	18.37:g.25565563_25565564delinsAA	ENSP00000269141:p.Gly635Leu					CDH2_uc010xbn.1_Missense_Mutation_p.G604L	p.G635L	NM_001792	NP_001783	P19022	CADH2_HUMAN			12	2362_2363	-			635			Extracellular (Potential).|Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	DNP	ENST00000269141.3	37	c.1903_1904GG>TT	CCDS11891.1																																																																																				0.381	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		8	45	0	0	0	0.004672	0	8	45				
ASXL3	80816	broad.mit.edu	37	18	31325106	31325106	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:31325106C>A	ENST00000269197.5	+	12	5294	c.5294C>A	c.(5293-5295)cCa>cAa	p.P1765Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAGTGTTGCCACAGCCCAGA	0.512																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(5293-5295)CCA>CAA		additional sex combs like 3							52.0	52.0	52.0					18																	31325106		1955	4154	6109	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325106C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5294C>A	18.37:g.31325106C>A	ENSP00000269197:p.Pro1765Gln					ASXL3_uc002kxq.2_Missense_Mutation_p.P1472Q	p.P1765Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5349	+			1765					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5294C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567848	0.65651	.	.	ENSG00000141431	ENST00000269197	T	0.45668	0.89	5.7	5.7	0.88788	.	.	.	.	.	T	0.56381	0.1981	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.58707	-0.7589	9	0.87932	D	0	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	1765	Q9C0F0	ASXL3_HUMAN	Q	1765	ENSP00000269197:P1765Q	ENSP00000269197:P1765Q	P	+	2	0	ASXL3	29579104	1.000000	0.71417	0.967000	0.41034	0.733000	0.41908	7.263000	0.78421	2.698000	0.92095	0.655000	0.94253	CCA		0.512	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			9	20	1	0	5.4927e-09	0.004482	8.0151e-09	9	20				
ASXL3	80816	broad.mit.edu	37	18	31326041	31326041	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:31326041A>T	ENST00000269197.5	+	12	6229	c.6229A>T	c.(6229-6231)Agc>Tgc	p.S2077C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2077					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGGCATATGTAGCAATATAAA	0.428																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6229-6231)AGC>TGC		additional sex combs like 3							88.0	88.0	88.0					18																	31326041		1879	4102	5981	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326041A>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6229A>T	18.37:g.31326041A>T	ENSP00000269197:p.Ser2077Cys					ASXL3_uc002kxq.2_Missense_Mutation_p.S1784C	p.S2077C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6284	+			2077					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6229A>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271006	0.59540	.	.	ENSG00000141431	ENST00000269197	T	0.20738	2.05	5.2	5.2	0.72013	.	.	.	.	.	T	0.32675	0.0837	N	0.24115	0.695	0.43238	D	0.995145	D	0.76494	0.999	D	0.80764	0.994	T	0.11542	-1.0583	9	0.54805	T	0.06	.	15.0782	0.72093	1.0:0.0:0.0:0.0	.	2077	Q9C0F0	ASXL3_HUMAN	C	2077	ENSP00000269197:S2077C	ENSP00000269197:S2077C	S	+	1	0	ASXL3	29580039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	1.967000	0.57214	0.460000	0.39030	AGC		0.428	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			10	63	0	0	0	0.008291	0	10	63				
RPRD1A	55197	broad.mit.edu	37	18	33610792	33610792	+	Silent	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:33610792T>G	ENST00000399022.4	-	4	636	c.465A>C	c.(463-465)ggA>ggC	p.G155G	RPRD1A_ENST00000588737.1_Silent_p.G119G|RPRD1A_ENST00000357384.4_Silent_p.G155G|RPRD1A_ENST00000319040.6_Silent_p.G155G|RPRD1A_ENST00000337059.5_Silent_p.G119G|RPRD1A_ENST00000590898.1_Silent_p.G119G	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	155					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CACTTGGAGATCCCAGAGAGG	0.358																																							uc002kzf.1		NA																	0				ovary(1)|breast(1)	2						c.(463-465)GGA>GGC		regulation of nuclear pre-mRNA domain containing							100.0	97.0	98.0					18																	33610792		2203	4300	6503	SO:0001819	synonymous_variant	55197							g.chr18:33610792T>G	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.465A>C	18.37:g.33610792T>G						RPRD1A_uc002kze.1_Silent_p.G119G|RPRD1A_uc002kzg.2_Silent_p.G155G|RPRD1A_uc010dmw.2_Silent_p.G119G|RPRD1A_uc010dmx.2_Silent_p.G155G	p.G155G	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN			4	471	-			155					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Silent	SNP	ENST00000399022.4	37	c.465A>C	CCDS11917.1																																																																																				0.358	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		3	20	0	0	0	0.004672	0	3	20				
SLC14A2	8170	broad.mit.edu	37	18	43224063	43224063	+	Missense_Mutation	SNP	C	C	A	rs532768022		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:43224063C>A	ENST00000255226.6	+	10	2105	c.1289C>A	c.(1288-1290)cCc>cAc	p.P430H	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P430H|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	430					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCACCTACCCCGAGGCCAAC	0.562																																							uc010dnj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1288-1290)CCC>CAC		solute carrier family 14 (urea transporter),							179.0	170.0	173.0					18																	43224063		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43224063C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1289C>A	18.37:g.43224063C>A	ENSP00000255226:p.Pro430His					SLC14A2_uc002lbb.2_Missense_Mutation_p.P430H|SLC14A2_uc002lbe.2_Missense_Mutation_p.P430H	p.P430H	NM_007163	NP_009094	Q15849	UT2_HUMAN			11	1610	+			430					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1289C>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103510	0.94245	.	.	ENSG00000132874	ENST00000255226	T	0.47869	0.83	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70256	-0.4922	10	0.87932	D	0	-14.7492	19.5373	0.95257	0.0:1.0:0.0:0.0	.	430	Q15849	UT2_HUMAN	H	430	ENSP00000255226:P430H	ENSP00000255226:P430H	P	+	2	0	SLC14A2	41478061	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.411000	0.80078	2.629000	0.89072	0.655000	0.94253	CCC		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			26	108	1	0	1.16021e-09	0.007291	1.73165e-09	26	108				
MYO5B	4645	broad.mit.edu	37	18	47527634	47527634	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:47527634G>A	ENST00000285039.7	-	5	902	c.603C>T	c.(601-603)ccC>ccT	p.P201P		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	201	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTCCATGATGGGACTGGATG	0.587																																							uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(601-603)CCC>CCT		myosin VB							89.0	90.0	90.0					18																	47527634		2019	4170	6189	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47527634G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.603C>T	18.37:g.47527634G>A						MYO5B_uc002lec.1_Silent_p.P200P	p.P201P	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	5	891	-			201			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.603C>T	CCDS42436.1																																																																																				0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			11	59	0	0	0	0.010729	0	11	59				
DCC	1630	broad.mit.edu	37	18	50683813	50683813	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:50683813G>T	ENST00000442544.2	+	8	1965	c.1349G>T	c.(1348-1350)cGc>cTc	p.R450L	DCC_ENST00000581580.1_Missense_Mutation_p.R105L|DCC_ENST00000412726.1_Missense_Mutation_p.R298L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	450	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCAGCTGGCGCCCACCTGCA	0.502																																							uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1348-1350)CGC>CTC		netrin receptor DCC precursor							135.0	122.0	127.0					18																	50683813		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50683813G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1349G>T	18.37:g.50683813G>T	ENSP00000389140:p.Arg450Leu					DCC_uc010xdr.1_Missense_Mutation_p.R298L|DCC_uc010dpf.1_Missense_Mutation_p.R105L	p.R450L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	8	1936	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	450			Extracellular (Potential).|Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1349G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393220	0.62066	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56776	0.44;0.44	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.61413	0.2345	L	0.54323	1.7	0.50313	D	0.999862	P;P;B	0.41393	0.748;0.748;0.214	P;P;P	0.49752	0.543;0.543;0.621	T	0.59172	-0.7504	10	0.41790	T	0.15	.	18.0448	0.89329	0.0:0.0:1.0:0.0	.	298;298;450	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	450;383;298	ENSP00000389140:R450L;ENSP00000397322:R298L	ENSP00000304146:R383L	R	+	2	0	DCC	48937811	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.879000	0.92398	2.567000	0.86603	0.561000	0.74099	CGC		0.502	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		17	65	1	0	7.07596e-05	0.006122	8.45336e-05	17	65				
DCC	1630	broad.mit.edu	37	18	50866234	50866234	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:50866234G>A	ENST00000442544.2	+	15	2932	c.2316G>A	c.(2314-2316)gtG>gtA	p.V772V	DCC_ENST00000581580.1_Silent_p.V427V|DCC_ENST00000412726.1_Silent_p.V620V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	772	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGACAGTGCGTGTGGACA	0.418																																							uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2314-2316)GTG>GTA		netrin receptor DCC precursor							152.0	128.0	136.0					18																	50866234		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50866234G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2316G>A	18.37:g.50866234G>A						DCC_uc010xdr.1_Silent_p.V620V|DCC_uc010dpf.1_Silent_p.V427V	p.V772V	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	15	2903	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	772			Extracellular (Potential).|Fibronectin type-III 4.			Silent	SNP	ENST00000442544.2	37	c.2316G>A	CCDS11952.1																																																																																				0.418	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		8	37	0	0	0	0.004482	0	8	37				
WDR7	23335	broad.mit.edu	37	18	54688028	54688028	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:54688028G>T	ENST00000254442.3	+	27	4428	c.4217G>T	c.(4216-4218)gGa>gTa	p.G1406V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.G1373V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1406					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCTCCTGATGGAAGATATCTT	0.413																																							uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(4216-4218)GGA>GTA		rabconnectin-3 beta isoform 1							180.0	155.0	163.0					18																	54688028		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54688028G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4217G>T	18.37:g.54688028G>T	ENSP00000254442:p.Gly1406Val					WDR7_uc002lgl.1_Missense_Mutation_p.G1373V	p.G1406V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	27	4428	+			1406			WD 9.		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.4217G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977281	0.92982	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.73152	-0.72;-0.72	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90473	0.7016	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92411	0.5937	10	0.87932	D	0	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	1373;1406	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1406;1373;731;1373	ENSP00000254442:G1406V;ENSP00000350187:G1373V	ENSP00000254442:G1406V	G	+	2	0	WDR7	52839026	1.000000	0.71417	0.982000	0.44146	0.839000	0.47603	9.693000	0.98684	2.941000	0.99782	0.655000	0.94253	GGA		0.413	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			13	64	1	0	0.000151284	0.001855	0.000178105	13	64				
ST8SIA3	51046	broad.mit.edu	37	18	55024505	55024505	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:55024505C>A	ENST00000324000.3	+	3	2698	c.664C>A	c.(664-666)Ctc>Atc	p.L222I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	222					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTACAACAATCTCTTGACTAT	0.423																																							uc002lgn.2		NA																	0				breast(1)|skin(1)	2						c.(664-666)CTC>ATC		ST8 alpha-N-acetyl-neuraminide							54.0	56.0	55.0					18																	55024505		2203	4299	6502	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024505C>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.664C>A	18.37:g.55024505C>A	ENSP00000320431:p.Leu222Ile						p.L222I	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	1021	+			222			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.664C>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586499	0.66105	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.34072	1.38	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.82193	2.58	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.69397	-0.5156	10	0.87932	D	0	-0.191	19.7585	0.96304	0.0:1.0:0.0:0.0	.	222	O43173	SIA8C_HUMAN	I	329;222	ENSP00000320431:L222I	ENSP00000320431:L222I	L	+	1	0	ST8SIA3	53175503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.713000	0.54882	2.773000	0.95371	0.655000	0.94253	CTC		0.423	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		8	29	1	0	0.000157383	0.00308	0.000182879	8	29				
ONECUT2	9480	broad.mit.edu	37	18	55103647	55103647	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:55103647C>T	ENST00000491143.2	+	1	731	c.699C>T	c.(697-699)ggC>ggT	p.G233G	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	233					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCCGCTGGGCAACGGGCTAG	0.672																																							uc002lgo.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(697-699)GGC>GGT		one cut domain, family member 2							19.0	24.0	23.0					18																	55103647		2106	4202	6308	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103647C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.699C>T	18.37:g.55103647C>T							p.G233G	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	731	+		Colorectal(73;0.234)	233						Silent	SNP	ENST00000491143.2	37	c.699C>T	CCDS42440.1																																																																																				0.672	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			3	19	0	0	0	0.009096	0	3	19				
MALT1	10892	broad.mit.edu	37	18	56409154	56409154	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:56409154T>C	ENST00000348428.3	+	14	1919	c.1661T>C	c.(1660-1662)tTa>tCa	p.L554S	MALT1_ENST00000345724.3_Missense_Mutation_p.L543S|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	554	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CGAAGTAGTTTATCTGAGAAG	0.388			T	BIRC3	MALT																																		uc002lhm.1		NA		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1660-1662)TTA>TCA		mucosa associated lymphoid tissue lymphoma							103.0	101.0	101.0					18																	56409154		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56409154T>C		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1661T>C	18.37:g.56409154T>C	ENSP00000319279:p.Leu554Ser					MALT1_uc002lhn.1_Missense_Mutation_p.L543S	p.L554S	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			14	1919	+			554			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1661T>C	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967420	0.74131	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.57595	0.39;0.39	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.85373	2.75	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	D;D	0.71184	0.952;0.972	T	0.79871	-0.1620	10	0.87932	D	0	.	15.3186	0.74102	0.0:0.0:0.0:1.0	.	543;554	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	S	554;543	ENSP00000319279:L554S;ENSP00000304161:L543S	ENSP00000304161:L543S	L	+	2	0	MALT1	54560134	1.000000	0.71417	0.446000	0.26920	0.995000	0.86356	7.690000	0.84178	2.101000	0.63845	0.366000	0.22137	TTA		0.388	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			11	48	0	0	0	0.001368	0	11	48				
SERPINB12	89777	broad.mit.edu	37	18	61232706	61232706	+	Missense_Mutation	SNP	C	C	A	rs200518644	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:61232706C>A	ENST00000269491.1	+	6	674	c.674C>A	c.(673-675)aCg>aAg	p.T225K	SERPINB12_ENST00000382768.1_Missense_Mutation_p.T245K	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488																																							uc010xen.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(673-675)ACG>AAG		serine (or cysteine) proteinase inhibitor, clade							146.0	131.0	136.0					18																	61232706		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232706C>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.674C>A	18.37:g.61232706C>A	ENSP00000269491:p.Thr225Lys					SERPINB12_uc010xeo.1_Missense_Mutation_p.T245K	p.T225K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			6	674	+			225					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.674C>A	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.359237	0.00214	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82433	-1.61;-1.61	5.35	0.44	0.16572	Serpin domain (3);	1.245950	0.05373	N	0.535732	T	0.60157	0.2247	N	0.02751	-0.505	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48592	-0.9022	10	0.25751	T	0.34	.	3.0124	0.06048	0.5129:0.1228:0.065:0.2993	.	245;225	Q3SYB4;Q96P63	.;SPB12_HUMAN	K	225;245	ENSP00000269491:T225K;ENSP00000372218:T245K	ENSP00000269491:T225K	T	+	2	0	SERPINB12	59383686	0.007000	0.16637	0.031000	0.17742	0.015000	0.08874	0.748000	0.26305	0.131000	0.18576	-0.769000	0.03391	ACG		0.488	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		12	58	1	0	3.07112e-06	0.010729	3.94924e-06	12	58				
SERPINB3	6317	broad.mit.edu	37	18	61328425	61328425	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:61328425G>T	ENST00000283752.5	-	2	169	c.26C>A	c.(25-27)aCc>aAc	p.T9N	SERPINB3_ENST00000332821.8_Missense_Mutation_p.T9N|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	9					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CATGAACTTGGTGTTGGCTTC	0.418																																							uc002ljg.2		NA																	0				ovary(2)|lung(1)	3						c.(25-27)ACC>AAC		SubName: Full=Squamous cell carcinoma antigen 2;							262.0	235.0	245.0					18																	61328425		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328425G>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.26C>A	18.37:g.61328425G>T	ENSP00000283752:p.Thr9Asn					SERPINB3_uc002lji.2_Missense_Mutation_p.T9N|SERPINB3_uc010dqa.2_Missense_Mutation_p.T9N|SERPINB3_uc010dqb.2_Missense_Mutation_p.T9N|SERPINB3_uc010dqc.2_Missense_Mutation_p.T9N	p.T9N			P48594	SPB4_HUMAN			1	52	-			9					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.26C>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331502	0.24167	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84298	-1.83;-1.83	3.13	0.331	0.15933	Serpin domain (2);	0.537025	0.15592	N	0.254325	D	0.82788	0.5113	L	0.35644	1.08	0.09310	N	1	D;D;P;D;D	0.61080	0.989;0.974;0.951;0.974;0.974	D;P;P;P;P	0.65874	0.939;0.89;0.848;0.89;0.89	T	0.69738	-0.5064	10	0.40728	T	0.16	.	0.6012	0.00745	0.3318:0.1695:0.326:0.1727	.	9;9;9;9;9	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	N	9	ENSP00000283752:T9N;ENSP00000329498:T9N	ENSP00000283752:T9N	T	-	2	0	SERPINB3	59479405	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-0.133000	0.10451	0.050000	0.15949	0.455000	0.32223	ACC		0.418	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		18	94	1	0	4.35082e-09	0.010504	6.42048e-09	18	94				
CCDC102B	79839	broad.mit.edu	37	18	66504519	66504519	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:66504519A>G	ENST00000360242.5	+	2	636	c.519A>G	c.(517-519)caA>caG	p.Q173Q	CCDC102B_ENST00000319445.6_Silent_p.Q173Q|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Silent_p.Q173Q|CCDC102B_ENST00000358653.5_Silent_p.Q173Q	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	173										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATACAGACCAATTTCAATTGA	0.373																																							uc002lkk.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(517-519)CAA>CAG		coiled-coil domain containing 102B							109.0	106.0	107.0					18																	66504519		1858	4102	5960	SO:0001819	synonymous_variant	79839							g.chr18:66504519A>G	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.519A>G	18.37:g.66504519A>G						CCDC102B_uc002lki.2_Silent_p.Q173Q|CCDC102B_uc002lkj.1_Silent_p.Q173Q	p.Q173Q	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			4	742	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	173					Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	c.519A>G	CCDS11996.2																																																																																				0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		18	79	0	0	0	0.00499	0	18	79				
RTTN	25914	broad.mit.edu	37	18	67863821	67863821	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:67863821C>A	ENST00000255674.6	-	7	1043	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L	RTTN_ENST00000454359.1_Missense_Mutation_p.V253L|RTTN_ENST00000437017.1_Missense_Mutation_p.V253L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	253					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGGCAGGACACCGACTGTAAT	0.413																																							uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(757-759)GTG>TTG		rotatin							84.0	82.0	82.0					18																	67863821		1887	4122	6009	SO:0001583	missense	25914						binding	g.chr18:67863821C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.757G>T	18.37:g.67863821C>A	ENSP00000255674:p.Val253Leu					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.V253L	p.V253L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			7	825	-		Esophageal squamous(42;0.129)	253					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.757G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660993	0.29515	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.58940	3.95;0.3;0.3	5.4	3.55	0.40652	Armadillo-like helical (1);Armadillo-type fold (2);	0.187619	0.35407	N	0.003239	T	0.35537	0.0935	L	0.29908	0.895	0.27422	N	0.954267	B;B	0.29162	0.084;0.235	B;B	0.22601	0.04;0.037	T	0.13764	-1.0497	10	0.20519	T	0.43	.	3.2417	0.06783	0.1484:0.5631:0.1435:0.145	.	253;253	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	L	253	ENSP00000255674:V253L;ENSP00000402352:V253L;ENSP00000399520:V253L	ENSP00000255674:V253L	V	-	1	0	RTTN	66014801	0.197000	0.23362	0.913000	0.36048	0.993000	0.82548	0.630000	0.24553	0.599000	0.29845	0.650000	0.86243	GTG		0.413	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		24	37	1	0	2.21704e-12	0.00278	3.61011e-12	24	37				
SALL3	27164	broad.mit.edu	37	18	76754811	76754811	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:76754811C>A	ENST00000537592.2	+	2	2820	c.2820C>A	c.(2818-2820)agC>agA	p.S940R	SALL3_ENST00000536229.3_Missense_Mutation_p.S807R|SALL3_ENST00000575389.2_Missense_Mutation_p.S940R	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	940					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCGGACAGCCCAgccgccg	0.731																																							uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2818-2820)AGC>AGA		sal-like 3							6.0	8.0	7.0					18																	76754811		2036	3938	5974	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754811C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2820C>A	18.37:g.76754811C>A	ENSP00000441823:p.Ser940Arg					SALL3_uc010dra.2_Missense_Mutation_p.S547R	p.S940R	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2820	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	940					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2820C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522283	0.13066	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10099	2.91	5.49	0.935	0.19483	.	0.000000	0.64402	D	0.000002	T	0.16171	0.0389	M	0.68952	2.095	0.35232	D	0.777035	P;D	0.60575	0.919;0.988	P;P	0.49140	0.587;0.601	T	0.29150	-1.0021	10	0.30078	T	0.28	-28.8573	11.4913	0.50383	0.0:0.5806:0.0:0.4194	.	672;940	F5GXY4;Q9BXA9	.;SALL3_HUMAN	R	940;940;672	ENSP00000441823:S940R	ENSP00000299466:S940R	S	+	3	2	SALL3	74855799	0.549000	0.26481	0.959000	0.39883	0.116000	0.19942	0.112000	0.15479	0.230000	0.21059	0.561000	0.74099	AGC		0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	5	1	0	0.004672	0.004672	0.00503002	3	5				
PALM	5064	broad.mit.edu	37	19	746629	746629	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:746629G>C	ENST00000338448.5	+	9	1025	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	PALM_ENST00000264560.7_Missense_Mutation_p.E283Q|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	327					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CATCACGGCGGAGCTGGTGGT	0.627																																							uc002lpm.1		NA																	0					0						c.(979-981)GAG>CAG		paralemmin isoform 1							38.0	31.0	33.0					19																	746629		2201	4300	6501	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746629G>C	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.979G>C	19.37:g.746629G>C	ENSP00000341911:p.Glu327Gln					PALM_uc002lpn.1_Missense_Mutation_p.E283Q|PALM_uc010xfu.1_Missense_Mutation_p.E192Q	p.E327Q	NM_002579	NP_002570	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	9	1173	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	327					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.979G>C	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401424	0.83120	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.32988	1.43;1.43	4.19	4.19	0.49359	.	0.113156	0.64402	D	0.000014	T	0.58892	0.2154	M	0.83012	2.62	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67345	-0.5694	10	0.87932	D	0	-26.8141	15.6583	0.77162	0.0:0.0:1.0:0.0	.	283;327	O75781-2;O75781	.;PALM_HUMAN	Q	327;283;192	ENSP00000341911:E327Q;ENSP00000264560:E283Q	ENSP00000264560:E283Q	E	+	1	0	PALM	697629	1.000000	0.71417	0.963000	0.40424	0.681000	0.39784	9.080000	0.94040	2.154000	0.67381	0.462000	0.41574	GAG		0.627	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		6	14	0	0	0	0.001168	0	6	14				
MISP	126353	broad.mit.edu	37	19	757678	757678	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:757678G>T	ENST00000215582.6	+	2	835	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	244					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ACGGGCACGTGGTTCCCATCA	0.662																																							uc002lpo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(730-732)GTG>GTT		hypothetical protein LOC126353							30.0	30.0	30.0					19																	757678		2202	4300	6502	SO:0001819	synonymous_variant	126353							g.chr19:757678G>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.732G>T	19.37:g.757678G>T							p.V244V	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	815	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	244						Silent	SNP	ENST00000215582.6	37	c.732G>T	CCDS12042.1																																																																																				0.662	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		9	7	1	0	2.17888e-05	0.006214	2.68607e-05	9	7				
ABCA7	10347	broad.mit.edu	37	19	1043816	1043816	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:1043816C>G	ENST00000263094.6	+	10	1254	c.1023C>G	c.(1021-1023)gaC>gaG	p.D341E	ABCA7_ENST00000433129.1_Missense_Mutation_p.D341E|ABCA7_ENST00000435683.2_Missense_Mutation_p.D203E	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	341					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGAACGACAGTTCCAATG	0.637																																							uc002lqw.3		NA																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(1021-1023)GAC>GAG		ATP-binding cassette, sub-family A, member 7							163.0	163.0	163.0					19																	1043816		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043816C>G	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1023C>G	19.37:g.1043816C>G	ENSP00000263094:p.Asp341Glu					ABCA7_uc010dsb.1_Missense_Mutation_p.D203E	p.D341E	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1254	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	341			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1023C>G	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503330	0.26949	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.84589	-1.87;-1.87	4.33	3.29	0.37713	.	.	.	.	.	T	0.79015	0.4375	L	0.45581	1.43	0.25030	N	0.991278	P;B	0.36048	0.534;0.059	B;B	0.35727	0.209;0.027	T	0.63937	-0.6524	9	0.21540	T	0.41	.	9.9799	0.41806	0.0:0.8968:0.0:0.1032	.	203;341	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	E	341	ENSP00000263094:D341E;ENSP00000414062:D341E	ENSP00000263094:D341E	D	+	3	2	ABCA7	994816	0.203000	0.23435	0.193000	0.23327	0.434000	0.31775	0.341000	0.19909	0.804000	0.34136	0.455000	0.32223	GAC		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		23	85	0	0	0	0.00278	0	23	85				
FZR1	51343	broad.mit.edu	37	19	3532599	3532599	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:3532599C>T	ENST00000395095.3	+	10	1193	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M	FZR1_ENST00000313639.8_Missense_Mutation_p.T309M|FZR1_ENST00000441788.2_Missense_Mutation_p.T398M	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	398					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTATCGACACGGGCTCCCAA	0.662																																							uc010dtk.2		NA																	0				lung(1)|kidney(1)	2						c.(1192-1194)ACG>ATG		Fzr1 protein isoform 1							40.0	39.0	40.0					19																	3532599		2203	4299	6502	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3532599C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1193C>T	19.37:g.3532599C>T	ENSP00000378529:p.Thr398Met					FZR1_uc002lxt.2_Missense_Mutation_p.T398M|FZR1_uc002lxv.2_Missense_Mutation_p.T309M	p.T398M	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1227	+			398			WD 6.		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.1193C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	c	19.58	3.854266	0.71719	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.30448	1.53;1.53;4.97	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75095	0.3803	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.955;0.996;0.907	D	0.87502	0.2434	10	0.87932	D	0	-19.6042	16.6424	0.85129	0.0:1.0:0.0:0.0	.	398;309;398	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	M	398;398;309	ENSP00000410369:T398M;ENSP00000378529:T398M;ENSP00000321800:T309M	ENSP00000321800:T309M	T	+	2	0	FZR1	3483599	1.000000	0.71417	0.944000	0.38274	0.338000	0.28826	7.539000	0.82063	2.269000	0.75478	0.537000	0.68136	ACG		0.662	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		5	13	0	0	0	0.001168	0	5	13				
MATK	4145	broad.mit.edu	37	19	3779011	3779011	+	Silent	SNP	C	C	A	rs140717053	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:3779011C>A	ENST00000310132.6	-	12	1574	c.1176G>T	c.(1174-1176)gcG>gcT	p.A392A	MATK_ENST00000395040.2_Silent_p.A351A|MATK_ENST00000585778.1_Silent_p.A392A|MATK_ENST00000395045.2_Silent_p.A393A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCCTCGGGCGCCGTCCACT	0.647																																							uc002lyt.2		NA																	0				stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(1174-1176)GCG>GCT		megakaryocyte-associated tyrosine kinase isoform							30.0	34.0	33.0					19																	3779011		2203	4300	6503	SO:0001819	synonymous_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779011C>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1176G>T	19.37:g.3779011C>A						MATK_uc002lyv.2_Silent_p.A393A|MATK_uc002lyu.2_Silent_p.A351A|MATK_uc010dtq.2_Silent_p.A392A	p.A392A	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1576	-		Hepatocellular(1079;0.137)	392			Protein kinase.		B3KNZ9|Q9NST8	Silent	SNP	ENST00000310132.6	37	c.1176G>T	CCDS12114.1																																																																																				0.647	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		4	21	1	0	0.000602214	0.000602	0.000676645	4	21				
PLIN4	729359	broad.mit.edu	37	19	4511323	4511323	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:4511323G>T	ENST00000301286.3	-	3	2606	c.2607C>A	c.(2605-2607)ggC>ggA	p.G869G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	869	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TAGTGTCCAGGCCCCCCTGGA	0.587																																							uc002mar.1		NA																	0					0						c.(2605-2607)GGC>GGA		plasma membrane associated protein, S3-12							84.0	92.0	89.0					19																	4511323		1933	4111	6044	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511323G>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2607C>A	19.37:g.4511323G>T						PLIN4_uc010dub.1_5'UTR	p.G869G	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	2607	-			869			27 X 33 AA approximate tandem repeat.|24.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.2607C>A	CCDS45927.1																																																																																				0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		10	85	1	0	4.68919e-08	0.008291	6.60997e-08	10	85				
INSR	3643	broad.mit.edu	37	19	7125416	7125416	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:7125416T>G	ENST00000302850.5	-	17	3278	c.3136A>C	c.(3136-3138)Atc>Ctc	p.I1046L	INSR_ENST00000341500.5_Missense_Mutation_p.I1034L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1046	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCACCCTTGATGATGTCCCTG	0.602																																							uc002mgd.1		NA																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(3136-3138)ATC>CTC		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						161.0	125.0	137.0					19																	7125416		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7125416T>G	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3136A>C	19.37:g.7125416T>G	ENSP00000303830:p.Ile1046Leu					INSR_uc002mge.1_Missense_Mutation_p.I1034L	p.I1046L	NM_000208	NP_000199	P06213	INSR_HUMAN			17	3245	-			1046			Protein kinase.|Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3136A>C	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727529	0.48833	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82081	-1.57;-1.57	5.06	0.189	0.15119	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.574994	0.14225	N	0.333145	T	0.62514	0.2434	N	0.03084	-0.415	0.41498	D	0.988263	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.50162	-0.8860	10	0.66056	D	0.02	.	9.2639	0.37630	0.0:0.2258:0.0:0.7742	.	1034;1046	P06213-2;P06213	.;INSR_HUMAN	L	1046;1034	ENSP00000303830:I1046L;ENSP00000342838:I1034L	ENSP00000303830:I1046L	I	-	1	0	INSR	7076416	0.392000	0.25229	0.991000	0.47740	0.942000	0.58702	0.919000	0.28692	-0.121000	0.11787	-0.242000	0.12053	ATC		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			11	56	0	0	0	0.008291	0	11	56				
INSR	3643	broad.mit.edu	37	19	7143017	7143017	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:7143017G>A	ENST00000302850.5	-	12	2494	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	INSR_ENST00000341500.5_Silent_p.S772S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	784	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCTGGTCGAGGAAGTGTTGG	0.612																																							uc002mgd.1		NA																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(2350-2352)TCC>TCT		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						93.0	65.0	75.0					19																	7143017		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7143017G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2352C>T	19.37:g.7143017G>A						INSR_uc002mge.1_Silent_p.S772S	p.S784S	NM_000208	NP_000199	P06213	INSR_HUMAN			12	2461	-			784			Fibronectin type-III 2.|Extracellular (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.2352C>T	CCDS12176.1																																																																																				0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			5	33	0	0	0	0.000602	0	5	33				
PRAM1	84106	broad.mit.edu	37	19	8564404	8564404	+	Silent	SNP	C	C	A	rs534738212		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:8564404C>A	ENST00000423345.4	-	2	808	c.288G>T	c.(286-288)ccG>ccT	p.P96P	PRAM1_ENST00000255612.3_Silent_p.P96P			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	144	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCTCAGGCGGCGGGGGCTTCT	0.642																																							uc002mkd.2		NA																	0					0						c.(286-288)CCG>CCT		PML-RARA regulated adaptor molecule 1							11.0	12.0	12.0					19																	8564404		1112	2633	3745	SO:0001819	synonymous_variant	84106						lipid binding|protein binding	g.chr19:8564404C>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.288G>T	19.37:g.8564404C>A						PRAM1_uc002mkc.2_Silent_p.P96P	p.P96P	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	308	-			144			Pro-rich.|7.|8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.		Q8N6W7	Silent	SNP	ENST00000423345.4	37	c.288G>T	CCDS45954.2																																																																																				0.642	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		4	87	1	0	0.00909568	0.009096	0.00964006	4	87				
PRAM1	84106	broad.mit.edu	37	19	8564440	8564440	+	Silent	SNP	C	C	A	rs368791056		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:8564440C>A	ENST00000423345.4	-	2	772	c.252G>T	c.(250-252)ccG>ccT	p.P84P	PRAM1_ENST00000255612.3_Silent_p.P84P			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	132	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCTCAGGCGGCGGGGGCTTCT	0.667																																							uc002mkd.2		NA																	0					0						c.(250-252)CCG>CCT		PML-RARA regulated adaptor molecule 1							21.0	27.0	25.0					19																	8564440		1499	3516	5015	SO:0001819	synonymous_variant	84106						lipid binding|protein binding	g.chr19:8564440C>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.252G>T	19.37:g.8564440C>A						PRAM1_uc002mkc.2_Silent_p.P84P	p.P84P	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	272	-			132			Pro-rich.|6.|8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.		Q8N6W7	Silent	SNP	ENST00000423345.4	37	c.252G>T	CCDS45954.2																																																																																				0.667	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		10	90	1	0	0.000442599	0.006214	0.000502282	10	90				
ZNF558	148156	broad.mit.edu	37	19	8922257	8922257	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:8922257C>A	ENST00000601372.1	-	10	1620	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF558_ENST00000444186.2_Missense_Mutation_p.K232N|ZNF558_ENST00000301475.1_Missense_Mutation_p.K303N			Q96NG5	ZN558_HUMAN	zinc finger protein 558	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						GATAGGAGCTCTTCCTGAAGG	0.443																																							uc002mkn.1		NA																	0				central_nervous_system(1)	1						c.(907-909)AAG>AAT		zinc finger protein 558							102.0	97.0	99.0					19																	8922257		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922257C>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.909G>T	19.37:g.8922257C>A	ENSP00000471277:p.Lys303Asn					ZNF558_uc010xkh.1_Missense_Mutation_p.K232N|ZNF558_uc010dwg.1_Missense_Mutation_p.K303N	p.K303N	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN			6	1139	-			303			C2H2-type 6.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.909G>T	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298224	0.40694	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.07444	3.19;3.19	4.89	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000330	T	0.10981	0.0268	N	0.16130	0.375	0.21967	N	0.999444	D	0.71674	0.998	D	0.66351	0.943	T	0.14615	-1.0466	10	0.34782	T	0.22	.	9.7177	0.40284	0.0:0.8225:0.0:0.1775	.	303	Q96NG5	ZN558_HUMAN	N	303;232	ENSP00000301475:K303N;ENSP00000410703:K232N	ENSP00000301475:K303N	K	-	3	2	ZNF558	8783257	0.000000	0.05858	0.996000	0.52242	0.846000	0.48090	-0.289000	0.08365	1.281000	0.44480	0.591000	0.81541	AAG		0.443	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		20	46	1	0	6.44725e-10	0.002299	9.7166e-10	20	46				
MUC16	94025	broad.mit.edu	37	19	9048196	9048196	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9048196T>A	ENST00000397910.4	-	5	33638	c.33435A>T	c.(33433-33435)tcA>tcT	p.S11145S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11147	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACCTCAGGTGAAACAGTTA	0.458																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33433-33435)TCA>TCT		mucin 16							90.0	82.0	84.0					19																	9048196		1906	4136	6042	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048196T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33435A>T	19.37:g.9048196T>A							p.S11145S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33639	-			11147			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.33435A>T	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	41	0	0	0	0.000602	0	5	41				
MUC16	94025	broad.mit.edu	37	19	9058542	9058542	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9058542G>A	ENST00000397910.4	-	3	29107	c.28904C>T	c.(28903-28905)aCa>aTa	p.T9635I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9637	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTGACATTGTGGACTGAGC	0.498																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28903-28905)ACA>ATA		mucin 16							145.0	130.0	135.0					19																	9058542		2017	4167	6184	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058542G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28904C>T	19.37:g.9058542G>A	ENSP00000381008:p.Thr9635Ile						p.T9635I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29108	-			9637			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28904C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.998	0.754816	0.15846	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.62	1.53	0.23141	.	.	.	.	.	T	0.05640	0.0148	L	0.34521	1.04	.	.	.	D	0.58268	0.982	P	0.59288	0.855	T	0.30031	-0.9992	8	0.87932	D	0	.	6.5486	0.22420	0.0:0.0:0.713:0.287	.	9635	B5ME49	.	I	9635	ENSP00000381008:T9635I	ENSP00000381008:T9635I	T	-	2	0	MUC16	8919542	0.000000	0.05858	0.002000	0.10522	0.404000	0.30871	-0.198000	0.09505	0.647000	0.30713	0.305000	0.20034	ACA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	46	0	0	0	0.001984	0	6	46				
MUC16	94025	broad.mit.edu	37	19	9063543	9063543	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9063543G>C	ENST00000397910.4	-	3	24106	c.23903C>G	c.(23902-23904)aCt>aGt	p.T7968S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7970	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGTCTAGTTTTTTCCAG	0.468																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(23902-23904)ACT>AGT		mucin 16							91.0	88.0	89.0					19																	9063543		1961	4145	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063543G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23903C>G	19.37:g.9063543G>C	ENSP00000381008:p.Thr7968Ser						p.T7968S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24107	-			7970			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23903C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.659	0.122504	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	2.67	-1.05	0.10036	.	.	.	.	.	T	0.17704	0.0425	L	0.48642	1.525	.	.	.	B	0.26845	0.161	B	0.17433	0.018	T	0.25187	-1.0139	8	0.87932	D	0	.	3.0923	0.06297	0.2928:0.2314:0.4757:0.0	.	7968	B5ME49	.	S	7968	ENSP00000381008:T7968S	ENSP00000381008:T7968S	T	-	2	0	MUC16	8924543	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.634000	0.02020	-0.105000	0.12132	0.404000	0.27445	ACT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	15	0	0	0	0.008291	0	11	15				
MUC16	94025	broad.mit.edu	37	19	9066013	9066013	+	Missense_Mutation	SNP	G	G	T	rs189766241	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9066013G>T	ENST00000397910.4	-	3	21636	c.21433C>A	c.(21433-21435)Cca>Aca	p.P7145T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7147	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAAGTTCTGGGCTTGTGTGT	0.498													G|||	3	0.000599042	0.0	0.0	5008	,	,		23335	0.0		0.003	False		,,,				2504	0.0						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21433-21435)CCA>ACA		mucin 16		A	THR/PRO	0,4142		0,0,2071	206.0	189.0	195.0		21433	-2.4	0.0	19		195	2,8408		0,2,4203	no	missense	MUC16	NM_024690.2	38	0,2,6274	TT,TG,GG		0.0238,0.0,0.0159	benign	7145/14508	9066013	2,12550	2071	4205	6276	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066013G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21433C>A	19.37:g.9066013G>T	ENSP00000381008:p.Pro7145Thr						p.P7145T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21637	-			7147			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21433C>A	CCDS54212.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	2.620	-0.288878	0.05605	0.0	2.38E-4	ENSG00000181143	ENST00000397910	T	0.20069	2.1	2.6	-2.42	0.06542	.	.	.	.	.	T	0.06554	0.0168	N	0.01352	-0.895	.	.	.	B	0.15141	0.012	B	0.19946	0.027	T	0.30268	-0.9984	8	0.87932	D	0	.	4.8857	0.13701	0.4364:0.1703:0.3933:0.0	.	7145	B5ME49	.	T	7145	ENSP00000381008:P7145T	ENSP00000381008:P7145T	P	-	1	0	MUC16	8927013	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.475000	0.00228	-1.255000	0.02481	-2.128000	0.00344	CCA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	43	1	0	6.90743e-12	0.003755	1.10259e-11	35	43				
MUC16	94025	broad.mit.edu	37	19	9069697	9069697	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9069697T>A	ENST00000397910.4	-	3	17952	c.17749A>T	c.(17749-17751)Agc>Tgc	p.S5917C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5919	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGGAGGGCTTTGCCATGAC	0.493																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17749-17751)AGC>TGC		mucin 16							123.0	115.0	117.0					19																	9069697		1970	4143	6113	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069697T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17749A>T	19.37:g.9069697T>A	ENSP00000381008:p.Ser5917Cys						p.S5917C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	17953	-			5919			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17749A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.086	-0.187961	0.06299	.	.	ENSG00000181143	ENST00000397910	T	0.28454	1.61	1.76	0.657	0.17850	.	.	.	.	.	T	0.26011	0.0634	L	0.48642	1.525	.	.	.	D	0.60160	0.987	P	0.45195	0.473	T	0.32402	-0.9908	8	0.87932	D	0	.	4.5352	0.12024	0.0:0.0:0.345:0.655	.	5917	B5ME49	.	C	5917	ENSP00000381008:S5917C	ENSP00000381008:S5917C	S	-	1	0	MUC16	8930697	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.185000	0.16958	0.128000	0.18479	0.254000	0.18369	AGC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	26	0	0	0	0.008871	0	20	26				
MUC16	94025	broad.mit.edu	37	19	9075151	9075151	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9075151G>T	ENST00000397910.4	-	3	12498	c.12295C>A	c.(12295-12297)Cca>Aca	p.P4099T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4101	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCGCCAGGTGGACTTGTTTGC	0.507																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12295-12297)CCA>ACA		mucin 16							124.0	121.0	122.0					19																	9075151		2100	4221	6321	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075151G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12295C>A	19.37:g.9075151G>T	ENSP00000381008:p.Pro4099Thr						p.P4099T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12499	-			4101			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12295C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.719	-0.057867	0.07317	.	.	ENSG00000181143	ENST00000397910	T	0.03181	4.02	2.09	-0.308	0.12773	.	.	.	.	.	T	0.03520	0.0101	L	0.36672	1.1	.	.	.	B	0.24576	0.106	B	0.23574	0.047	T	0.24799	-1.0150	8	0.87932	D	0	.	6.5626	0.22495	0.0:0.0:0.4459:0.5541	.	4099	B5ME49	.	T	4099	ENSP00000381008:P4099T	ENSP00000381008:P4099T	P	-	1	0	MUC16	8936151	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-1.195000	0.03043	-0.005000	0.14395	0.313000	0.20887	CCA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	53	1	0	0.000274275	0.004482	0.000314197	9	53				
MUC16	94025	broad.mit.edu	37	19	9083001	9083001	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9083001C>A	ENST00000397910.4	-	1	9017	c.8814G>T	c.(8812-8814)agG>agT	p.R2938S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2939	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATCCTTGCCCTTGGGTTTT	0.483																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8812-8814)AGG>AGT		mucin 16							111.0	103.0	106.0					19																	9083001		1946	4152	6098	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083001C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8814G>T	19.37:g.9083001C>A	ENSP00000381008:p.Arg2938Ser						p.R2938S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9018	-			2939			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8814G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.534	-0.543529	0.04053	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	0.763	-0.445	0.12242	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	P	0.45594	0.862	B	0.40009	0.316	T	0.45789	-0.9237	8	0.87932	D	0	.	3.3544	0.07164	0.0:0.6737:0.0:0.3263	.	2938	B5ME49	.	S	2938	ENSP00000381008:R2938S	ENSP00000381008:R2938S	R	-	3	2	MUC16	8944001	0.002000	0.14202	0.002000	0.10522	0.145000	0.21501	0.153000	0.16323	-0.145000	0.11294	-0.680000	0.03767	AGG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	31	1	0	1.50039e-11	0.012319	2.37271e-11	21	31				
MUC16	94025	broad.mit.edu	37	19	9084796	9084796	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9084796G>T	ENST00000397910.4	-	1	7222	c.7019C>A	c.(7018-7020)aCa>aAa	p.T2340K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2340	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGAAACTGTGCTGGTCTC	0.473																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7018-7020)ACA>AAA		mucin 16							126.0	125.0	125.0					19																	9084796		1945	4144	6089	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084796G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7019C>A	19.37:g.9084796G>T	ENSP00000381008:p.Thr2340Lys						p.T2340K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7223	-			2340			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7019C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.212	0.224555	0.09916	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2340	B5ME49	.	K	2340	ENSP00000381008:T2340K	ENSP00000381008:T2340K	T	-	2	0	MUC16	8945796	0.379000	0.25123	0.356000	0.25785	0.361000	0.29550	-0.019000	0.12546	0.300000	0.22699	0.305000	0.20034	ACA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	23	1	0	0.000274275	0.004482	0.000314197	8	23				
MUC16	94025	broad.mit.edu	37	19	9089680	9089681	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9089680_9089681GG>TT	ENST00000397910.4	-	1	2337_2338	c.2134_2135CC>AA	c.(2134-2136)CCa>AAa	p.P712K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	712	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGAGTCTGGTTCAGGGGAA	0.495																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2134-2136)CCA>AAA		mucin 16																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089680_9089681GG>TT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2134_2135delinsTT	19.37:g.9089680_9089681delinsTT	ENSP00000381008:p.Pro712Lys						p.P712K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2338_2339	-			712			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	DNP	ENST00000397910.4	37	c.2134_2135CC>AA	CCDS54212.1																																																																																				0.495	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	42	0	0	0	0.004672	0	4	42				
MUC16	94025	broad.mit.edu	37	19	9090897	9090897	+	Silent	SNP	G	G	T	rs199745142		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9090897G>T	ENST00000397910.4	-	1	1121	c.918C>A	c.(916-918)ctC>ctA	p.L306L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	306	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGGGAGGTGAGACTCTGGC	0.498																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(916-918)CTC>CTA		mucin 16							109.0	112.0	111.0					19																	9090897		2020	4181	6201	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090897G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.918C>A	19.37:g.9090897G>T							p.L306L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1122	-			306			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.918C>A	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	56	1	0	1.9806e-07	0.002299	2.71096e-07	21	56				
ZNF560	147741	broad.mit.edu	37	19	9584916	9584916	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:9584916C>T	ENST00000301480.4	-	4	329	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	39	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATCACATCTCTGTATAAGTT	0.438																																							uc002mlp.1		NA																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(115-117)AGA>AAA		zinc finger protein 560							148.0	141.0	143.0					19																	9584916		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9584916C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.116G>A	19.37:g.9584916C>T	ENSP00000301480:p.Arg39Lys					ZNF560_uc010dwr.1_5'UTR	p.R39K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			4	326	-			39			KRAB 1.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.116G>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	0.899	-0.722966	0.03158	.	.	ENSG00000198028	ENST00000301480	T	0.02301	4.35	2.08	0.986	0.19784	Krueppel-associated box (4);	.	.	.	.	T	0.02418	0.0074	L	0.60957	1.885	0.09310	N	1	P	0.36587	0.559	B	0.33690	0.168	T	0.44159	-0.9346	9	0.16896	T	0.51	.	5.7628	0.18209	0.3172:0.6828:0.0:0.0	.	39	Q96MR9	ZN560_HUMAN	K	39	ENSP00000301480:R39K	ENSP00000301480:R39K	R	-	2	0	ZNF560	9445916	0.006000	0.16342	0.111000	0.21465	0.383000	0.30230	0.037000	0.13840	0.427000	0.26145	-0.538000	0.04264	AGA		0.438	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		8	50	0	0	0	0.00308	0	8	50				
COL5A3	50509	broad.mit.edu	37	19	10107362	10107362	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:10107362G>A	ENST00000264828.3	-	12	1352	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	423	Collagen-like 1.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGCCAGCAGGGCCCTgagag	0.607																																							uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(1267-1269)CCT>TCT		collagen, type V, alpha 3 preproprotein							25.0	24.0	25.0					19																	10107362		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10107362G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1267C>T	19.37:g.10107362G>A	ENSP00000264828:p.Pro423Ser						p.P423S	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		12	1353	-			423			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1267C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576525	0.86645	.	.	ENSG00000080573	ENST00000264828	D	0.93247	-3.19	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000001	D	0.96297	0.8792	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95466	0.8547	10	0.35671	T	0.21	.	14.1009	0.65054	0.0:0.0:1.0:0.0	.	423	P25940	CO5A3_HUMAN	S	423	ENSP00000264828:P423S	ENSP00000264828:P423S	P	-	1	0	COL5A3	9968362	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.567000	0.73983	2.406000	0.81754	0.655000	0.94253	CCT		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	7	0	0	0	0.009096	0	4	7				
MAST1	22983	broad.mit.edu	37	19	12949442	12949442	+	Missense_Mutation	SNP	G	G	A	rs371773961		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:12949442G>A	ENST00000251472.4	+	1	95	c.56G>A	c.(55-57)gGc>gAc	p.G19D	MAST1_ENST00000591495.1_Intron	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCTTCCCCGGCGGCAGTATG	0.667																																							uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(55-57)GGC>GAC		microtubule associated serine/threonine kinase							47.0	40.0	42.0					19																	12949442		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12949442G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.56G>A	19.37:g.12949442G>A	ENSP00000251472:p.Gly19Asp					MAST1_uc002mvk.2_Intron|MAST1_uc002mvl.2_Missense_Mutation_p.G19D	p.G19D	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			1	184	+			19						Missense_Mutation	SNP	ENST00000251472.4	37	c.56G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180460	0.38511	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.64085	-0.08	3.96	2.85	0.33270	.	0.429781	0.17181	N	0.183898	T	0.36331	0.0963	N	0.14661	0.345	0.32321	N	0.562445	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33214	-0.9877	10	0.11485	T	0.65	-17.6679	5.7595	0.18192	0.1554:0.0:0.8446:0.0	.	19;19	Q9Y2H9;B4DMN4	MAST1_HUMAN;.	D	19	ENSP00000251472:G19D	ENSP00000251472:G19D	G	+	2	0	MAST1	12810442	0.999000	0.42202	0.999000	0.59377	0.965000	0.64279	1.614000	0.36911	2.039000	0.60335	0.484000	0.47621	GGC		0.667	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		7	18	0	0	0	0.006214	0	7	18				
LPHN1	22859	broad.mit.edu	37	19	14266339	14266339	+	Splice_Site	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:14266339T>A	ENST00000340736.6	-	19	3438	c.3141A>T	c.(3139-3141)aaA>aaT	p.K1047N	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Splice_Site_p.K1042N|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1047					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCCCAGGATCTGGGAGTGG	0.677																																							uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3139-3141)AAA>AAT		latrophilin 1 isoform 1 precursor							36.0	40.0	38.0					19																	14266339		2203	4300	6503	SO:0001630	splice_region_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266339T>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3141-1A>T	19.37:g.14266339T>A						LPHN1_uc010xno.1_Missense_Mutation_p.K1042N|uc002myf.2_Intron	p.K1047N	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			19	3437	-			1047			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3141A>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.167085	0.38217	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.36878	1.23;1.23	5.03	1.03	0.20045	GPCR, family 2-like (1);	0.308557	0.33075	N	0.005320	T	0.28566	0.0707	L	0.41710	1.295	0.34778	D	0.734445	B;B	0.23650	0.003;0.089	B;B	0.28991	0.017;0.097	T	0.29027	-1.0025	10	0.48119	T	0.1	.	9.608	0.39645	0.0:0.7732:0.0:0.2268	.	1042;1047	O94910-2;O94910	.;LPHN1_HUMAN	N	1047;1042	ENSP00000340688:K1047N;ENSP00000355328:K1042N	ENSP00000340688:K1047N	K	-	3	2	LPHN1	14127339	0.992000	0.36948	0.971000	0.41717	0.526000	0.34562	0.368000	0.20399	0.230000	0.21059	0.459000	0.35465	AAA		0.677	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	Missense_Mutation	22	27	0	0	0	0.002299	0	22	27				
SLC1A6	6511	broad.mit.edu	37	19	15064949	15064949	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:15064949G>T	ENST00000221742.3	-	7	1369	c.1362C>A	c.(1360-1362)atC>atA	p.I454I	SLC1A6_ENST00000430939.2_Silent_p.I390I|SLC1A6_ENST00000600144.1_Silent_p.I376I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	454					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.I454I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCCCTCACCTGATGGTTGTGA	0.592																																							uc002naa.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(3)|ovary(2)|skin(1)	6						c.(1360-1362)ATC>ATA		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						73.0	65.0	68.0					19																	15064949		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15064949G>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1362C>A	19.37:g.15064949G>T						SLC1A6_uc010dzu.1_Silent_p.I376I|SLC1A6_uc010xod.1_Silent_p.I390I	p.I454I	NM_005071	NP_005062	P48664	EAA4_HUMAN			7	1370	-			454					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1362C>A	CCDS12321.1																																																																																				0.592	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		12	33	1	0	4.3838e-07	0.001855	5.8727e-07	12	33				
OR10H5	284433	broad.mit.edu	37	19	15905108	15905108	+	Missense_Mutation	SNP	G	G	A	rs575365825		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:15905108G>A	ENST00000308940.8	+	1	348	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGCTGGCCGACCTGCTGTC	0.612																																							uc010xos.1		NA																	0				ovary(1)	1						c.(250-252)GAC>AAC		olfactory receptor, family 10, subfamily H,							99.0	84.0	89.0					19																	15905108		2203	4298	6501	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905108G>A	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.250G>A	19.37:g.15905108G>A	ENSP00000310704:p.Asp84Asn						p.D84N	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	250	+			84			Extracellular (Potential).		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.250G>A	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.346112	0.24426	.	.	ENSG00000172519	ENST00000308940	T	0.02974	4.09	3.47	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.01558	0.0050	N	0.11651	0.15	0.09310	N	1	P	0.41345	0.746	B	0.40677	0.337	T	0.39078	-0.9631	10	0.02654	T	1	.	8.8883	0.35418	0.1173:0.0:0.8827:0.0	.	84	Q8NGA6	O10H5_HUMAN	N	84	ENSP00000310704:D84N	ENSP00000310704:D84N	D	+	1	0	OR10H5	15766108	0.000000	0.05858	0.284000	0.24805	0.777000	0.43975	0.682000	0.25335	0.564000	0.29238	0.585000	0.79938	GAC		0.612	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			6	74	0	0	0	0.001984	0	6	74				
CALR3	125972	broad.mit.edu	37	19	16595992	16595992	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:16595992C>T	ENST00000269881.3	-	4	536	c.474G>A	c.(472-474)aaG>aaA	p.K158K	CALR3_ENST00000602234.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	158	N-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TGATCAGTTTCTTGTTTTCGT	0.308																																							uc002ned.2		NA																	0					0						c.(472-474)AAG>AAA		calreticulin 3 precursor							131.0	121.0	125.0					19																	16595992		2203	4299	6502	SO:0001819	synonymous_variant	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16595992C>T	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.474G>A	19.37:g.16595992C>T						MED26_uc002nee.2_Intron	p.K158K	NM_145046	NP_659483	Q96L12	CALR3_HUMAN			4	537	-			158			N-domain.		D9N574|Q96LN3	Silent	SNP	ENST00000269881.3	37	c.474G>A	CCDS12344.1																																																																																				0.308	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046		6	13	0	0	0	0.001168	0	6	13				
USHBP1	83878	broad.mit.edu	37	19	17369165	17369165	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:17369165A>G	ENST00000252597.3	-	8	1249	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	USHBP1_ENST00000431146.2_Missense_Mutation_p.L295P|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CAGAGCAAGCAGAACCCTGTA	0.582																																							uc002nfs.1		NA																	0				ovary(1)	1						c.(1075-1077)CTG>CCG		Usher syndrome 1C binding protein 1							75.0	70.0	72.0					19																	17369165		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17369165A>G	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1076T>C	19.37:g.17369165A>G	ENSP00000252597:p.Leu359Pro					USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.L295P	p.L359P	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			8	1189	-			359						Missense_Mutation	SNP	ENST00000252597.3	37	c.1076T>C	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	a	14.95	2.688480	0.48097	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.60040	0.22;0.22	4.11	4.11	0.48088	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.51477	D	0.000097	T	0.69360	0.3102	M	0.72894	2.215	0.45607	D	0.998546	D;D	0.71674	0.998;0.998	D;D	0.66196	0.942;0.942	T	0.68315	-0.5441	10	0.33940	T	0.23	-13.1242	10.0679	0.42315	1.0:0.0:0.0:0.0	.	295;359	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	P	359;295	ENSP00000252597:L359P;ENSP00000407902:L295P	ENSP00000252597:L359P	L	-	2	0	USHBP1	17230165	0.987000	0.35691	0.041000	0.18516	0.026000	0.11368	3.756000	0.55205	1.816000	0.52996	0.445000	0.29226	CTG		0.582	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		10	30	0	0	0	0.006214	0	10	30				
COMP	1311	broad.mit.edu	37	19	18895885	18895885	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:18895885C>T	ENST00000222271.2	-	16	1779	c.1735G>A	c.(1735-1737)Ggc>Agc	p.G579S	COMP_ENST00000425807.1_Missense_Mutation_p.G526S|COMP_ENST00000542601.2_Missense_Mutation_p.G546S	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	579	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AAGTCCACGCCATTGAAGGCA	0.592																																							uc002nke.2		NA																	0					0						c.(1735-1737)GGC>AGC		cartilage oligomeric matrix protein precursor							119.0	101.0	107.0					19																	18895885		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18895885C>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1735G>A	19.37:g.18895885C>T	ENSP00000222271:p.Gly579Ser					COMP_uc002nkd.2_Missense_Mutation_p.G546S|COMP_uc010xqj.1_Missense_Mutation_p.G526S	p.G579S	NM_000095	NP_000086	P49747	COMP_HUMAN			16	1771	-			579			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1735G>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343792	0.61073	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.91011	-2.77;-2.77;-2.77	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.93756	0.8004	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93741	0.7050	10	0.49607	T	0.09	-41.9606	15.2116	0.73227	0.0:1.0:0.0:0.0	.	526;579	B4DKJ3;P49747	.;COMP_HUMAN	S	546;579;526;566	ENSP00000439156:G546S;ENSP00000222271:G579S;ENSP00000403792:G526S	ENSP00000222271:G579S	G	-	1	0	COMP	18756885	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	5.633000	0.67825	2.169000	0.68431	0.484000	0.47621	GGC		0.592	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		15	40	0	0	0	0.004007	0	15	40				
NCAN	1463	broad.mit.edu	37	19	19338321	19338321	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:19338321C>A	ENST00000252575.6	+	8	1991	c.1892C>A	c.(1891-1893)cCt>cAt	p.P631H	NCAN_ENST00000538881.1_Missense_Mutation_p.P82H	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	631					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCAGATCTCCCTATGATGGCC	0.632																																							uc002nlz.2		NA																	0				ovary(4)	4						c.(1891-1893)CCT>CAT		chondroitin sulfate proteoglycan 3 precursor							57.0	53.0	55.0					19																	19338321		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338321C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1892C>A	19.37:g.19338321C>A	ENSP00000252575:p.Pro631His					NCAN_uc010ecc.1_Missense_Mutation_p.P195H	p.P631H	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	1991	+			631					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1892C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058801	0.55325	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.88277	-2.07;-2.36	4.22	4.22	0.49857	.	0.000000	0.38436	N	0.001688	D	0.90324	0.6973	L	0.32530	0.975	0.38043	D	0.935526	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91243	0.5023	10	0.54805	T	0.06	.	12.2958	0.54844	0.0:1.0:0.0:0.0	.	645;631	Q4LE67;O14594	.;NCAN_HUMAN	H	645;631;82	ENSP00000252575:P631H;ENSP00000442202:P82H	ENSP00000252575:P631H	P	+	2	0	NCAN	19199321	0.003000	0.15002	0.368000	0.25939	0.507000	0.33981	0.889000	0.28282	2.350000	0.79820	0.561000	0.74099	CCT		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		12	33	1	0	6.40141e-05	0.010729	7.65288e-05	12	33				
ZNF430	80264	broad.mit.edu	37	19	21240398	21240398	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:21240398C>G	ENST00000261560.5	+	5	1465	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	428					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GAGAGAAACCCTACAAATGTG	0.363																																							uc002npj.2		NA																	0				skin(2)	2						c.(1282-1284)CCC>CCG		zinc finger protein 430							35.0	38.0	37.0					19																	21240398		2203	4299	6502	SO:0001819	synonymous_variant	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240398C>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1284C>G	19.37:g.21240398C>G						ZNF430_uc002npk.2_Silent_p.P427P	p.P428P	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1394	+			428					Q86V70	Silent	SNP	ENST00000261560.5	37	c.1284C>G	CCDS32978.1																																																																																				0.363	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		7	19	0	0	0	0.00308	0	7	19				
ZNF208	7757	broad.mit.edu	37	19	22155018	22155018	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:22155018C>T	ENST00000397126.4	-	4	2966	c.2818G>A	c.(2818-2820)Gct>Act	p.A940T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	940					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTCTCCAGCATGAGTTTTC	0.373																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(2518-2520)GCT>ACT		zinc finger protein 208							45.0	47.0	47.0					19																	22155018		2016	4199	6215	SO:0001583	missense	7757							g.chr19:22155018C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2818G>A	19.37:g.22155018C>T	ENSP00000380315:p.Ala940Thr					ZNF208_uc002nqo.1_Intron	p.A840T	NM_007153	NP_009084					5	2667	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2518G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.148	-1.094572	0.01858	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.11277	2.79	2.84	0.468	0.16732	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	.	.	.	0.21020	N	0.999805	B	0.22480	0.07	B	0.21708	0.036	T	0.42599	-0.9442	8	0.02654	T	1	.	2.6281	0.04936	0.1981:0.2479:0.0:0.554	.	840	O43345	ZN208_HUMAN	T	940;840	ENSP00000380315:A940T	ENSP00000380315:A940T	A	-	1	0	ZNF208	21946858	0.342000	0.24809	0.001000	0.08648	0.135000	0.20990	0.799000	0.27028	-0.384000	0.07845	0.121000	0.15741	GCT		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	19	0	0	0	0.000602	0	5	19				
ZNF208	7757	broad.mit.edu	37	19	22156554	22156554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:22156554C>A	ENST00000397126.4	-	4	1430	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.393																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1282-1284)GAA>TAA		zinc finger protein 208							53.0	62.0	59.0					19																	22156554		2057	4235	6292	SO:0001587	stop_gained	7757							g.chr19:22156554C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1282G>T	19.37:g.22156554C>A	ENSP00000380315:p.Glu428*					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.E428*	NM_007153	NP_009084					4	1431	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.1282G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790609	0.70452	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.65	-3.36	0.04913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	5.0877	0.14691	0.0:0.264:0.2534:0.4826	.	.	.	.	X	428	.	ENSP00000380315:E428X	E	-	1	0	ZNF208	21948394	0.000000	0.05858	0.003000	0.11579	0.053000	0.15095	-4.979000	0.00163	-0.490000	0.06707	0.306000	0.20318	GAA		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		11	28	1	0	2.27111e-07	0.001368	3.08624e-07	11	28				
ZNF257	113835	broad.mit.edu	37	19	22256291	22256291	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:22256291G>T	ENST00000594947.1	+	3	295	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	ZNF257_ENST00000600162.1_Missense_Mutation_p.D51Y	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTAAGCCAGACCTGATCAC	0.413																																							uc010ecx.2		NA																	0					0						c.(151-153)GAC>TAC		zinc finger protein 257							132.0	145.0	141.0					19																	22256291		2203	4300	6503	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22256291G>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.151G>T	19.37:g.22256291G>T	ENSP00000470209:p.Asp51Tyr					ZNF257_uc010ecy.2_Missense_Mutation_p.D19Y	p.D51Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			3	320	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	51			KRAB.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.151G>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	7.057	0.565551	0.13560	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	0.86	0.19042	Krueppel-associated box (3);	.	.	.	.	T	0.36166	0.0957	L	0.60012	1.86	0.19300	N	0.999978	B	0.31125	0.309	B	0.33196	0.159	T	0.33317	-0.9873	8	0.51188	T	0.08	.	4.9378	0.13950	0.0:0.0:1.0:0.0	.	51	Q9Y2Q1	ZN257_HUMAN	Y	51	.	ENSP00000380312:D51Y	D	+	1	0	ZNF257	22048131	0.049000	0.20398	0.237000	0.24090	0.238000	0.25445	0.439000	0.21575	0.300000	0.22699	0.306000	0.20318	GAC		0.413	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			30	101	1	0	1.22384e-17	0.002836	2.19464e-17	30	101				
ZNF99	7652	broad.mit.edu	37	19	22939489	22939489	+	IGR	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:22939489G>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.G894G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAAACCTTTGCCACATTCTT	0.353																																							uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2680-2682)GGC>GGA		zinc finger protein 99							39.0	51.0	47.0					19																	22939489		1860	4190	6050	SO:0001628	intergenic_variant	7652							g.chr19:22939489G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939489G>T							p.G894G	NM_001080409	NP_001073878					7	2682	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2682C>A	CCDS59369.1																																																																																				0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	26	1	0	0.00909568	0.009096	0.00964006	4	26				
UQCRFS1	7386	broad.mit.edu	37	19	29698967	29698967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:29698967C>A	ENST00000304863.4	-	2	735	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	105					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCGCTGCTTTCTCTTGAAGAC	0.473																																							uc002nsd.2		NA																	0					0						c.(313-315)GAA>TAA		ubiquinol-cytochrome c reductase, Rieske							99.0	80.0	87.0					19																	29698967		2203	4300	6503	SO:0001587	stop_gained	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698967C>A	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.313G>T	19.37:g.29698967C>A	ENSP00000306397:p.Glu105*						p.E105*	NM_006003	NP_005994	P47985	UCRI_HUMAN	Lung(7;0.092)		2	424	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		105					A8K519|Q6NVX5|Q9UPH2	Nonsense_Mutation	SNP	ENST00000304863.4	37	c.313G>T	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853920	0.51270	.	.	ENSG00000169021	ENST00000304863	.	.	.	5.42	5.42	0.78866	.	0.418246	0.27375	N	0.019658	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	9.9456	0.41607	0.0:0.8442:0.0:0.1558	.	.	.	.	X	105	.	ENSP00000306397:E105X	E	-	1	0	UQCRFS1	34390807	0.837000	0.29446	0.988000	0.46212	0.012000	0.07955	1.501000	0.35693	2.540000	0.85666	0.462000	0.41574	GAA		0.473	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		29	50	1	0	2.12542e-12	0.00632	3.4709e-12	29	50				
CCNE1	898	broad.mit.edu	37	19	30308449	30308449	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:30308449G>T	ENST00000262643.3	+	6	741		c.e6+1		CCNE1_ENST00000444983.2_Splice_Site|CCNE1_ENST00000357943.5_Missense_Mutation_p.V155L	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1						androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GTTAATGGAGGTGAGCTTGAG	0.433			A		serous ovarian																																		uc002nsn.2		NA		Dom	yes		19	19q12	898		cyclin E1			E					0				lung(2)	2						c.e6+1		cyclin E1 isoform 1							138.0	139.0	139.0					19																	30308449		2203	4300	6503	SO:0001630	splice_region_variant	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30308449G>T	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.462+1G>T	19.37:g.30308449G>T						CCNE1_uc002nso.2_Splice_Site_p.E139_splice	p.E154_splice	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		6	645	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)							A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Splice_Site	SNP	ENST00000262643.3	37	c.462_splice	CCDS12419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.286281|2.286281	0.40494|0.40494	.|.	.|.	ENSG00000105173|ENSG00000105173	ENST00000262643;ENST00000444983|ENST00000357943	.|T	.|0.13307	.|2.6	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31734	.|0.0806	.|.	.|.	.|.	0.36333|0.36333	D|D	0.858994|0.858994	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02156	.|-1.1204	.|5	.|.	.|.	.|.	.|.	19.2865|19.2865	0.94077|0.94077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|155	.|ENSP00000350625:V155L	.|.	.|V	+|+	.|1	.|0	CCNE1|CCNE1	35000289|35000289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.790000|0.790000	0.44656|0.44656	9.829000|9.829000	0.99411|0.99411	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	.|GTG		0.433	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238	Intron	15	82	1	0	0.000308642	0.003163	0.00035309	15	82				
ZNF536	9745	broad.mit.edu	37	19	30935048	30935048	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:30935048C>A	ENST00000355537.3	+	2	726	c.579C>A	c.(577-579)cgC>cgA	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGTGCGCGAGGAGAACC	0.692																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(577-579)CGC>CGA		zinc finger protein 536							17.0	13.0	15.0					19																	30935048		2193	4290	6483	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935048C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.579C>A	19.37:g.30935048C>A						ZNF536_uc010edd.1_Silent_p.R193R	p.R193R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	717	+	Esophageal squamous(110;0.0834)		193					A2RU18	Silent	SNP	ENST00000355537.3	37	c.579C>A	CCDS32984.1																																																																																				0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		3	10	1	0	0.004672	0.004672	0.00503002	3	10				
TSHZ3	57616	broad.mit.edu	37	19	31769324	31769324	+	Missense_Mutation	SNP	G	G	A	rs368671140		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:31769324G>A	ENST00000240587.4	-	2	1702	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	459					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGCTGGCAGGTGTATTGGAG	0.552																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1375-1377)CCT>TCT		zinc finger protein 537							112.0	116.0	115.0					19																	31769324		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769324G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1375C>T	19.37:g.31769324G>A	ENSP00000240587:p.Pro459Ser						p.P459S	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1440	-	Esophageal squamous(110;0.226)		459					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1375C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	3.868	-0.028409	0.07589	.	.	ENSG00000121297	ENST00000240587	T	0.34667	1.35	5.55	5.55	0.83447	.	0.163511	0.56097	D	0.000034	T	0.22820	0.0551	N	0.13168	0.305	0.80722	D	1	B	0.30793	0.295	B	0.28553	0.091	T	0.07121	-1.0789	10	0.27785	T	0.31	-23.0481	14.3771	0.66886	0.0:0.0:0.8522:0.1478	.	459	Q63HK5	TSH3_HUMAN	S	459	ENSP00000240587:P459S	ENSP00000240587:P459S	P	-	1	0	TSHZ3	36461164	1.000000	0.71417	0.118000	0.21660	0.016000	0.09150	7.467000	0.80930	2.596000	0.87737	0.655000	0.94253	CCT		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	116	0	0	0	0.009096	0	4	116				
SLC7A9	11136	broad.mit.edu	37	19	33355660	33355660	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:33355660G>A	ENST00000023064.4	-	3	301	c.110C>T	c.(109-111)tCc>tTc	p.S37F	SLC7A9_ENST00000590341.1_Missense_Mutation_p.S37F|SLC7A9_ENST00000587772.1_Missense_Mutation_p.S37F|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	37					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACGATGATGGAGATGCCACT	0.627																																					GBM(181;1335 2108 9644 44178 46689)	GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NA																	0				skin(1)	1						c.(109-111)TCC>TTC		solute carrier family 7, member 9	L-Cystine(DB00138)						168.0	157.0	160.0					19																	33355660		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355660G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.110C>T	19.37:g.33355660G>A	ENSP00000023064:p.Ser37Phe					SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Missense_Mutation_p.S37F|SLC7A9_uc002ntw.3_Intron	p.S37F	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			3	227	-	Esophageal squamous(110;0.137)		37			Helical; (Potential).		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.110C>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758305	0.49468	.	.	ENSG00000021488	ENST00000023064	D	0.88201	-2.35	4.87	2.64	0.31445	Amino acid permease domain (1);	0.134693	0.64402	D	0.000001	D	0.93644	0.7970	M	0.79614	2.46	0.29435	N	0.859589	P	0.49253	0.921	D	0.63793	0.918	D	0.90815	0.4704	10	0.62326	D	0.03	.	16.2183	0.82241	0.0:0.6387:0.3613:0.0	.	37	P82251	BAT1_HUMAN	F	37	ENSP00000023064:S37F	ENSP00000023064:S37F	S	-	2	0	SLC7A9	38047500	1.000000	0.71417	0.999000	0.59377	0.615000	0.37417	2.667000	0.46808	0.202000	0.20498	-1.943000	0.00494	TCC		0.627	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			26	114	0	0	0	0.00632	0	26	114				
GPATCH1	55094	broad.mit.edu	37	19	33597774	33597774	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:33597774G>T	ENST00000170564.2	+	10	1568	c.1254G>T	c.(1252-1254)cgG>cgT	p.R418R		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	418					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCTCCAAACGGGCTGAGTTGC	0.463																																					Pancreas(67;88 1713 4567 18227)	Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	0				skin(1)	1						c.(1252-1254)CGG>CGT		G patch domain containing 1							93.0	70.0	78.0					19																	33597774		2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33597774G>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1254G>T	19.37:g.33597774G>T							p.R418R	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			10	1568	+	Esophageal squamous(110;0.137)		418					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.1254G>T	CCDS12428.1																																																																																				0.463	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		14	17	1	0	1.5842e-08	0.001855	2.2862e-08	14	17				
FFAR2	2867	broad.mit.edu	37	19	35941285	35941285	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:35941285G>T	ENST00000599180.2	+	2	749	c.669G>T	c.(667-669)ctG>ctT	p.L223L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L223L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	223					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGTGGGGCTGGCTGTGGTGA	0.612																																					GBM(40;139 809 9833 23358 48736)	GBM(40;139 809 9833 23358 48736)	uc002nzg.2		NA																	0				central_nervous_system(1)	1						c.(667-669)CTG>CTT		free fatty acid receptor 2							64.0	68.0	67.0					19																	35941285		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941285G>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.669G>T	19.37:g.35941285G>T						FFAR2_uc010eea.2_Silent_p.L223L	p.L223L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	749	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		223			Helical; Name=6; (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.669G>T	CCDS12461.1																																																																																				0.612	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		16	48	1	0	1.3612e-06	0.003163	1.79244e-06	16	48				
WDR62	284403	broad.mit.edu	37	19	36562599	36562599	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:36562599G>T	ENST00000270301.7	+	8	1024	c.1024G>T	c.(1024-1026)Gca>Tca	p.A342S	WDR62_ENST00000401500.2_Missense_Mutation_p.A342S|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.A342S			O43379	WDR62_HUMAN	WD repeat domain 62	342					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGTAGACGTGGCACAGGGCCT	0.607																																							uc002odc.2		NA																	0					0						c.(1024-1026)GCA>TCA		WD repeat domain 62 isoform 2							50.0	45.0	47.0					19																	36562599		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36562599G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1024G>T	19.37:g.36562599G>T	ENSP00000270301:p.Ala342Ser					WDR62_uc002odd.2_Missense_Mutation_p.A342S|WDR62_uc002odb.2_Missense_Mutation_p.A342S	p.A342S	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	1115	+	Esophageal squamous(110;0.162)		342					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.1024G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199752	0.58126	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.55052	0.79;0.54;0.64;0.7	5.96	3.77	0.43336	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.276140	0.36303	N	0.002673	T	0.57446	0.2054	L	0.31207	0.915	0.42971	D	0.994437	D;P;B	0.61697	0.99;0.816;0.005	D;B;B	0.65443	0.935;0.289;0.006	T	0.54662	-0.8260	10	0.34782	T	0.22	-20.6436	13.3291	0.60477	0.0:0.0:0.7121:0.2879	.	342;342;342	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	S	342;342;342;342;364	ENSP00000384792:A342S;ENSP00000373651:A342S;ENSP00000368137:A342S;ENSP00000270301:A342S	ENSP00000270301:A342S	A	+	1	0	WDR62	41254439	1.000000	0.71417	0.997000	0.53966	0.823000	0.46562	5.901000	0.69861	0.807000	0.34208	-0.181000	0.13052	GCA		0.607	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		19	11	1	0	3.62473e-10	0.012319	5.51167e-10	19	11				
ZNF345	25850	broad.mit.edu	37	19	37368191	37368191	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:37368191A>T	ENST00000529555.1	+	2	1247	c.459A>T	c.(457-459)aaA>aaT	p.K153N	ZNF345_ENST00000420450.1_Missense_Mutation_p.K153N|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.K153N			Q14585	ZN345_HUMAN	zinc finger protein 345	153					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAAGCCTTTAGTT	0.423																																							uc002oex.2		NA																	0				ovary(1)	1						c.(457-459)AAA>AAT		zinc finger protein 345							75.0	71.0	73.0					19																	37368191		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368191A>T	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.459A>T	19.37:g.37368191A>T	ENSP00000431202:p.Lys153Asn					ZNF345_uc002oey.3_Missense_Mutation_p.K153N|ZNF345_uc002oez.2_Intron	p.K153N	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	837	+	Esophageal squamous(110;0.183)		153			C2H2-type 4.			Missense_Mutation	SNP	ENST00000529555.1	37	c.459A>T	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930262	0.52866	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.27890	1.64;1.64	4.14	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55465	0.1922	M	0.85099	2.735	0.25600	N	0.986608	D	0.89917	1.0	D	0.91635	0.999	T	0.41034	-0.9531	8	.	.	.	.	7.5348	0.27704	0.8917:0.0:0.1083:0.0	.	153	Q14585	ZN345_HUMAN	N	153	ENSP00000431216:K153N;ENSP00000431202:K153N	.	K	+	3	2	ZNF345	42060031	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.139000	0.10358	1.847000	0.53656	0.459000	0.35465	AAA		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			7	27	0	0	0	0.00308	0	7	27				
SIPA1L3	23094	broad.mit.edu	37	19	38609996	38609996	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:38609996C>T	ENST00000222345.6	+	9	2851	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	781	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCCCCATCCCCAGTGGAACC	0.542																																							uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2341-2343)CCC>CTC		signal-induced proliferation-associated 1 like							71.0	79.0	76.0					19																	38609996		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38609996C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2342C>T	19.37:g.38609996C>T	ENSP00000222345:p.Pro781Leu						p.P781L	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	2851	+			781			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2342C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007755	0.93287	.	.	ENSG00000105738	ENST00000222345	D	0.95272	-3.66	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.111345	0.64402	D	0.000007	D	0.98002	0.9342	H	0.94503	3.545	0.80722	D	1	D	0.62365	0.991	D	0.69654	0.965	D	0.98888	1.0772	10	0.87932	D	0	-43.1388	17.7274	0.88369	0.0:1.0:0.0:0.0	.	781	O60292	SI1L3_HUMAN	L	781	ENSP00000222345:P781L	ENSP00000222345:P781L	P	+	2	0	SIPA1L3	43301836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.622000	0.83099	2.725000	0.93324	0.655000	0.94253	CCC		0.542	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		10	54	0	0	0	0.001368	0	10	54				
GGN	199720	broad.mit.edu	37	19	38876354	38876354	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:38876354G>T	ENST00000334928.6	-	3	1680	c.1548C>A	c.(1546-1548)ccC>ccA	p.P516P	SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	516	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gcgcagccgcgggtgcgggcg	0.736																																							uc002oij.1		NA																	0					0						c.(1546-1548)CCC>CCA		gametogenetin							13.0	14.0	14.0					19																	38876354		2171	4230	6401	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876354G>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1548C>A	19.37:g.38876354G>T						GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P433P	p.P516P	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1683	-	all_cancers(60;3.4e-06)		516			Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.1548C>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	4.848	0.157637	0.09236	.	.	ENSG00000179168	ENST00000392116	.	.	.	1.09	-2.18	0.07037	.	.	.	.	.	T	0.30759	0.0775	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.32771	-0.9894	5	0.42905	T	0.14	-0.0298	3.8464	0.08936	0.0:0.0:0.4194:0.5805	.	.	.	.	S	203	.	ENSP00000375963:R203S	R	-	1	0	GGN	43568194	0.157000	0.22836	0.006000	0.13384	0.039000	0.13416	1.539000	0.36104	-0.475000	0.06852	0.305000	0.20034	CGC		0.736	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		10	17	1	0	2.80697e-09	0.010729	4.15305e-09	10	17				
SARS2	54938	broad.mit.edu	37	19	39408393	39408393	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:39408393C>A	ENST00000221431.6	-	12	1290	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	SARS2_ENST00000430193.3_Missense_Mutation_p.E377D|SARS2_ENST00000600042.1_Missense_Mutation_p.E379D|SARS2_ENST00000448145.2_Missense_Mutation_p.E377D|SARS2_ENST00000598831.1_Missense_Mutation_p.E25D|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.D447Y|SARS2_ENST00000594171.1_Missense_Mutation_p.E187D	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	377					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCAAGATCTCCATCTGAA	0.637																																							uc002oka.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1129-1131)GAG>GAT		seryl-tRNA synthetase 2 isoform b precursor							76.0	68.0	71.0					19																	39408393		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39408393C>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1131G>T	19.37:g.39408393C>A	ENSP00000221431:p.Glu377Asp					SARS2_uc002ojz.2_Missense_Mutation_p.E187D|SARS2_uc010xup.1_Missense_Mutation_p.E379D|SARS2_uc002okb.2_Missense_Mutation_p.E377D|SARS2_uc010xuq.1_Missense_Mutation_p.E377D|SARS2_uc010xur.1_RNA	p.E377D	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		12	1291	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		377					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.1131G>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	c	15.76	2.928726	0.52759	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.68331	-0.32;-0.32	4.87	3.83	0.44106	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	L	0.39326	1.205	.	.	.	B;B;B;B	0.32101	0.167;0.356;0.356;0.034	B;B;B;B	0.32393	0.044;0.145;0.069;0.065	T	0.63488	-0.6626	9	0.31617	T	0.26	.	11.947	0.52934	0.0:0.9124:0.0:0.0876	.	377;379;377;377	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	D	379;377;377	ENSP00000221431:E377D;ENSP00000399330:E377D	ENSP00000221431:E377D	E	-	3	2	FBXO17	44100233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.543000	0.53633	1.048000	0.40298	0.479000	0.44913	GAG		0.637	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		16	32	1	0	0.000422831	0.004007	0.000483398	16	32				
LTBP4	8425	broad.mit.edu	37	19	41105418	41105418	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:41105418C>A	ENST00000308370.7	+	3	297	c.297C>A	c.(295-297)ccC>ccA	p.P99P	LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Silent_p.P62P|LTBP4_ENST00000396819.3_5'Flank|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	99					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTCCCAGCCCCAGCGTGAGGA	0.627																																							uc002ooh.1		NA																	0				central_nervous_system(1)	1						c.(295-297)CCC>CCA		latent transforming growth factor beta binding							83.0	96.0	91.0					19																	41105418		2015	4163	6178	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41105418C>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.297C>A	19.37:g.41105418C>A						LTBP4_uc002oog.1_Silent_p.P62P|LTBP4_uc002ooi.1_5'Flank	p.P99P	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	297	+			99					O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.297C>A																																																																																					0.627	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		44	31	1	0	7.63091e-17	0.007835	1.35413e-16	44	31				
EGLN2	112398	broad.mit.edu	37	19	41312536	41312536	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:41312536G>T	ENST00000593726.1	+	2	1948	c.920G>T	c.(919-921)tGc>tTc	p.C307F	EGLN2_ENST00000303961.4_Missense_Mutation_p.C307F|EGLN2_ENST00000406058.2_Missense_Mutation_p.C307F|EGLN2_ENST00000594140.1_Missense_Mutation_p.C25F|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_Intron			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	307	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GATGGGCGCTGCATCACCTGT	0.632											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010ehd.2		NA																	0				ovary(2)	2						c.(919-921)TGC>TTC		EGL nine (C.elegans) homolog 2	Vitamin C(DB00126)						126.0	94.0	104.0					19																	41312536		2203	4300	6503	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41312536G>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.920G>T	19.37:g.41312536G>T	ENSP00000469686:p.Cys307Phe		OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	900	EGLN2_uc002opg.3_Missense_Mutation_p.C307F|EGLN2_uc002oph.2_Missense_Mutation_p.C307F|EGLN2_uc002opi.2_Missense_Mutation_p.C307F	p.C307F	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		9	1921	+			307			Fe2OG dioxygenase.		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.920G>T	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598925	0.66332	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.58506	0.33;0.33	5.0	5.0	0.66597	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.051589	0.85682	D	0.000000	T	0.61689	0.2367	L	0.55213	1.73	0.80722	D	1	P	0.45768	0.866	P	0.47044	0.535	T	0.64689	-0.6348	10	0.52906	T	0.07	-16.8013	17.2313	0.86984	0.0:0.0:1.0:0.0	.	307	Q96KS0	EGLN2_HUMAN	F	307	ENSP00000307080:C307F;ENSP00000385253:C307F	ENSP00000307080:C307F	C	+	2	0	EGLN2	46004376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.250000	0.78287	2.585000	0.87301	0.655000	0.94253	TGC		0.632	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			12	39	1	0	4.3838e-07	0.001855	5.8727e-07	12	39				
PSG7	5676	broad.mit.edu	37	19	43439795	43439795	+	RNA	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:43439795C>A	ENST00000406070.2	-	0	287				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CCAGATGTGGCCAGTAAGATT	0.453																																							uc002ovl.3		NA																	0					0						c.(190-192)GGC>GTC		pregnancy specific beta-1-glycoprotein 7							153.0	161.0	158.0					19																	43439795		2201	4297	6498			5676				female pregnancy	extracellular region		g.chr19:43439795C>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439795C>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.G64V	NM_002783	NP_002774	Q13046	PSG7_HUMAN			2	293	-		Prostate(69;0.00682)	64			Ig-like V-type.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.191G>T																																																																																					0.453	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		62	77	1	0	1.4051e-37	0.00361	2.72369e-37	62	77				
PSG11	5680	broad.mit.edu	37	19	43519313	43519313	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:43519313C>G	ENST00000401740.1	-	4	1022	c.919G>C	c.(919-921)Gcc>Ccc	p.A307P	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000306322.7_Missense_Mutation_p.A185P|PSG11_ENST00000320078.7_Missense_Mutation_p.A307P|PSG11_ENST00000403486.1_Missense_Mutation_p.A185P			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	316	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCGCCAGTGGCTGAGTTACGA	0.458																																							uc002ovm.1		NA																	0					0						c.(919-921)GCC>CCC		pregnancy specific beta-1-glycoprotein 11							147.0	140.0	142.0					19																	43519313		2199	4297	6496	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43519313C>G	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.919G>C	19.37:g.43519313C>G	ENSP00000384995:p.Ala307Pro					PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.A313P|PSG11_uc002ovo.1_Missense_Mutation_p.A185P|PSG11_uc002ovp.1_Missense_Mutation_p.A185P	p.A307P	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			4	1026	-		Prostate(69;0.00682)	307			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.919G>C	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	10.69	1.421366	0.25639	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	0.976	-1.14	0.09741	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32852	0.0843	M	0.92459	3.31	0.09310	N	1	D;P	0.67145	0.996;0.899	D;P	0.73708	0.981;0.892	T	0.11084	-1.0602	9	0.72032	D	0.01	.	3.4239	0.07403	0.4496:0.5504:0.0:0.0	.	185;307	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	P	307;185;185;307	ENSP00000319140:A307P;ENSP00000385427:A185P;ENSP00000304913:A185P;ENSP00000384995:A307P	ENSP00000304913:A185P	A	-	1	0	PSG11	48211153	0.002000	0.14202	0.039000	0.18376	0.061000	0.15899	-0.000000	0.12993	0.453000	0.26858	0.184000	0.17185	GCC		0.458	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		85	43	0	0	0	0.00361	0	85	43				
PSG4	5672	broad.mit.edu	37	19	43698662	43698662	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:43698662G>A	ENST00000405312.3	-	5	1310	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	PSG4_ENST00000433626.2_Missense_Mutation_p.S265F|PSG4_ENST00000244295.9_Missense_Mutation_p.S265F	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	358	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCGTGGGTTAGACTCGGCGAA	0.468																																							uc002ovy.2		NA																	0				ovary(1)	1						c.(1072-1074)TCT>TTT		pregnancy specific beta-1-glycoprotein 4 isoform							175.0	180.0	178.0					19																	43698662		2202	4295	6497	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698662G>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1073C>T	19.37:g.43698662G>A	ENSP00000384770:p.Ser358Phe					PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.S265F|PSG4_uc002ovz.2_Missense_Mutation_p.S265F	p.S358F	NM_002780	NP_002771	Q00888	PSG4_HUMAN			5	1175	-		Prostate(69;0.00682)	358			Ig-like C2-type 3.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1073C>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.683821	0.29872	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.14516	2.5;2.5;2.5	1.4	1.4	0.22301	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45135	0.1327	H	0.96460	3.825	0.09310	N	1	D;P;D	0.89917	0.999;0.88;1.0	D;D;D	0.97110	1.0;0.945;1.0	T	0.20207	-1.0282	9	0.87932	D	0	.	6.1537	0.20326	0.0:0.0:1.0:0.0	.	265;265;358	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	F	265;358;265	ENSP00000244295:S265F;ENSP00000384770:S358F;ENSP00000387864:S265F	ENSP00000244295:S265F	S	-	2	0	PSG4	48390502	0.046000	0.20272	0.046000	0.18839	0.010000	0.07245	1.788000	0.38714	0.740000	0.32651	0.447000	0.29281	TCT		0.468	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		87	66	0	0	0	0.00361	0	87	66				
PVRL2	5819	broad.mit.edu	37	19	45391414	45391414	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:45391414A>G	ENST00000252483.5	+	9	1395	c.1395A>G	c.(1393-1395)ggA>ggG	p.G465G	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	465					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		AACGGTCAGGACCCTTGCACC	0.592																																							uc002ozw.1		NA																	0					0						c.(1393-1395)GGA>GGG		poliovirus receptor related 2 isoform delta							53.0	55.0	54.0					19																	45391414		1969	4152	6121	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45391414A>G	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1395A>G	19.37:g.45391414A>G							p.G465G	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	9	1785	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	465			Cytoplasmic (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.1395A>G	CCDS42576.1																																																																																				0.592	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		11	40	0	0	0	0.008291	0	11	40				
LIG1	3978	broad.mit.edu	37	19	48640796	48640796	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:48640796T>A	ENST00000263274.7	-	13	1656	c.1237A>T	c.(1237-1239)Agg>Tgg	p.R413W	LIG1_ENST00000536218.1_Missense_Mutation_p.R345W|LIG1_ENST00000427526.2_Missense_Mutation_p.R382W	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	413					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCAGTGAGCCTGGCGATGTCG	0.667								Nucleotide excision repair (NER)																															uc002pia.1		NA																	0				large_intestine(2)|lung(1)	3						c.(1237-1239)AGG>TGG	NER	DNA ligase I	Bleomycin(DB00290)						46.0	43.0	44.0					19																	48640796		2203	4298	6501	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48640796T>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1237A>T	19.37:g.48640796T>A	ENSP00000263274:p.Arg413Trp					LIG1_uc010xze.1_Missense_Mutation_p.R106W|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R345W|LIG1_uc010xzg.1_Missense_Mutation_p.R382W|LIG1_uc010xzh.1_RNA	p.R413W	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	13	1357	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	413					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1237A>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673586	0.67928	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.18016	2.24;2.24;2.24	5.06	-0.0531	0.13819	DNA ligase, ATP-dependent, N-terminal (3);	0.773872	0.11916	N	0.517169	T	0.25269	0.0614	L	0.56199	1.76	0.80722	D	1	P;D;D	0.60160	0.925;0.987;0.982	P;P;P	0.55260	0.772;0.662;0.772	T	0.18935	-1.0321	10	0.72032	D	0.01	-12.6361	7.3483	0.26676	0.0:0.2467:0.2931:0.4602	.	382;345;413	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	W	413;444;382;345	ENSP00000263274:R413W;ENSP00000442841:R382W;ENSP00000441531:R345W	ENSP00000263274:R413W	R	-	1	2	LIG1	53332608	0.979000	0.34478	0.992000	0.48379	0.731000	0.41821	1.321000	0.33678	0.194000	0.20326	0.533000	0.62120	AGG		0.667	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		5	15	0	0	0	0.001984	0	5	15				
SEC1P	653677	broad.mit.edu	37	19	49183658	49183658	+	RNA	SNP	C	C	A	rs548421541		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:49183658C>A	ENST00000430145.2	+	0	745					NR_004401.2				secretory blood group 1, pseudogene																		ACCACCTGAACGACTGGATGG	0.657																																							uc010xzv.1		NA																	0					0						c.(676-678)AAC>AAA		SubName: Full=cDNA FLJ58287, highly similar to Galactoside 2-alpha-L-fucosyltransferase 2 (EC 2.4.1.69);																																						653677							g.chr19:49183658C>A			19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49183658C>A						SEC1_uc002pka.2_Missense_Mutation_p.N186K|SEC1_uc010xzw.1_Missense_Mutation_p.N143K|SEC1_uc010ema.2_Missense_Mutation_p.N132K	p.N226K	NR_004401						5	805	+									Missense_Mutation	SNP	ENST00000430145.2	37	c.678C>A																																																																																					0.657	SEC1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000336334.1	NR_004401		10	16	1	0	3.86212e-05	0.008291	4.67636e-05	10	16				
IZUMO1	284359	broad.mit.edu	37	19	49244675	49244675	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:49244675G>T	ENST00000332955.2	-	9	1362	c.815C>A	c.(814-816)gCg>gAg	p.A272E	RASIP1_ENST00000222145.4_5'Flank|RASIP1_ENST00000594232.1_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	272					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CTCCGTGGTCGCCTCCCCCGG	0.562																																							uc002pkj.2		NA																	0				ovary(1)	1						c.(814-816)GCG>GAG		izumo sperm-egg fusion 1 precursor							74.0	80.0	78.0					19																	49244675		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49244675G>T	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.815C>A	19.37:g.49244675G>T	ENSP00000327786:p.Ala272Glu					RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	p.A272E	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	9	1363	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	272			Extracellular (Potential).		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.815C>A	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	4.186	0.033087	0.08101	.	.	ENSG00000182264	ENST00000332955	T	0.22134	1.97	4.96	-1.29	0.09288	.	8.845890	0.00357	N	0.000023	T	0.12944	0.0314	N	0.14661	0.345	0.09310	N	1	P	0.43287	0.802	B	0.43331	0.416	T	0.12372	-1.0550	10	0.12766	T	0.61	0.9498	4.342	0.11115	0.4194:0.1659:0.4147:0.0	.	272	Q8IYV9	IZUM1_HUMAN	E	272	ENSP00000327786:A272E	ENSP00000327786:A272E	A	-	2	0	IZUMO1	53936487	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-0.419000	0.07071	-0.142000	0.11354	-0.229000	0.12294	GCG		0.562	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		15	33	1	0	6.72482e-11	0.003163	1.04404e-10	15	33				
PRR12	57479	broad.mit.edu	37	19	50100115	50100115	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:50100115G>T	ENST00000418929.2	+	4	2535	c.2523G>T	c.(2521-2523)ccG>ccT	p.P841P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGCCACCCCCGCCTCCACCAC	0.746																																							uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(2521-2523)CCG>CCT		proline rich 12							3.0	4.0	4.0					19																	50100115		1393	3208	4601	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50100115G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2523G>T	19.37:g.50100115G>T							p.P841P	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2523	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	20			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.2523G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	5.149	0.213164	0.09757	.	.	ENSG00000126464	ENST00000246798;ENST00000314734	.	.	.	3.92	-0.543	0.11851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8629	0.29520	0.585:0.0:0.415:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRR12	54791927	0.005000	0.15991	0.906000	0.35671	0.647000	0.38526	1.783000	0.38664	-0.191000	0.10448	0.313000	0.20887	.		0.746	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	4	1	0	0.00909568	0.009096	0.00964006	3	4				
MED25	81857	broad.mit.edu	37	19	50340169	50340169	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:50340169A>T	ENST00000312865.6	+	18	2265	c.2212A>T	c.(2212-2214)Atg>Ttg	p.M738L	MED25_ENST00000538643.1_Missense_Mutation_p.M525L|PTOV1-AS1_ENST00000596521.1_RNA|PTOV1-AS1_ENST00000600742.1_RNA	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	738					cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCCCAGCGTCATGGAGGACGA	0.627																																					GBM(51;894 1657 37868)	GBM(51;894 1657 37868)	uc002ppw.1		NA																	0				ovary(1)	1						c.(2212-2214)ATG>TTG		mediator complex subunit 25							31.0	32.0	32.0					19																	50340169		2203	4300	6503	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50340169A>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.2212A>T	19.37:g.50340169A>T	ENSP00000326767:p.Met738Leu					MED25_uc010ybe.1_Missense_Mutation_p.M525L|MED25_uc002ppx.1_Intron	p.M738L	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	18	2265	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	738					A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.2212A>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443150	0.63067	.	.	ENSG00000104973	ENST00000312865;ENST00000538643;ENST00000377070;ENST00000542221	T;D	0.81499	-1.47;-1.5	5.4	4.39	0.52855	Mediator complex, subunit Med25, NR box (1);	.	.	.	.	T	0.69242	0.3089	N	0.19112	0.55	0.35289	D	0.782061	B;P	0.38167	0.364;0.621	B;B	0.38954	0.286;0.15	T	0.76364	-0.2986	9	0.87932	D	0	.	10.1814	0.42970	0.9213:0.0:0.0787:0.0	.	525;738	B9TX30;Q71SY5	.;MED25_HUMAN	L	738;525;473;388	ENSP00000326767:M738L;ENSP00000437496:M525L	ENSP00000326767:M738L	M	+	1	0	MED25	55031981	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.435000	0.80391	1.081000	0.41110	0.460000	0.39030	ATG		0.627	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		4	8	0	0	0	0.009096	0	4	8				
SYT3	84258	broad.mit.edu	37	19	51135839	51135839	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:51135839C>G	ENST00000338916.4	-	2	1011	c.378G>C	c.(376-378)ctG>ctC	p.L126L	SYT3_ENST00000544769.1_Silent_p.L126L|SYT3_ENST00000593901.1_Silent_p.L126L|SYT3_ENST00000600079.1_Silent_p.L126L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	126					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCGCCCAGCAGAGGATGGC	0.711																																							uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(376-378)CTG>CTC		synaptotagmin III							11.0	13.0	12.0					19																	51135839		2197	4283	6480	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135839C>G	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.378G>C	19.37:g.51135839C>G						SYT3_uc002psv.2_Silent_p.L126L|SYT3_uc010ycd.1_Silent_p.L126L	p.L126L	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	1012	-		all_neural(266;0.131)	126			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.378G>C	CCDS12798.1																																																																																				0.711	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		6	5	0	0	0	0.001168	0	6	5				
SHANK1	50944	broad.mit.edu	37	19	51171708	51171708	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:51171708C>T	ENST00000293441.1	-	22	3527	c.3509G>A	c.(3508-3510)cGc>cAc	p.R1170H	SHANK1_ENST00000359082.3_Missense_Mutation_p.R1161H|SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000391813.1_Missense_Mutation_p.R557H|SHANK1_ENST00000391814.1_Missense_Mutation_p.R1178H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1170					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGGCTGCTGCGGCCGCTGCT	0.776																																							uc002psx.1		NA																	0				large_intestine(2)	2						c.(3508-3510)CGC>CAC		SH3 and multiple ankyrin repeat domains 1							18.0	19.0	18.0					19																	51171708		1534	3324	4858	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51171708C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.3509G>A	19.37:g.51171708C>T	ENSP00000293441:p.Arg1170His					SHANK1_uc002psw.1_Missense_Mutation_p.R554H	p.R1170H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	3528	-		all_neural(266;0.057)	1170					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.3509G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	8.142	0.785489	0.16189	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.51325	0.81;1.33;0.77;0.71	1.38	1.38	0.22167	.	0.084921	0.46442	U	0.000282	T	0.56337	0.1978	L	0.48642	1.525	0.46356	D	0.999007	D;D	0.76494	0.999;0.999	D;D	0.73380	0.955;0.98	T	0.57608	-0.7782	10	0.87932	D	0	.	9.7025	0.40196	0.0:1.0:0.0:0.0	.	1170;557	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	H	1170;557;1161;1178	ENSP00000293441:R1170H;ENSP00000375689:R557H;ENSP00000351984:R1161H;ENSP00000375690:R1178H	ENSP00000293441:R1170H	R	-	2	0	SHANK1	55863520	0.005000	0.15991	1.000000	0.80357	0.808000	0.45660	0.939000	0.28978	0.743000	0.32719	0.165000	0.16767	CGC		0.776	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		8	12	0	0	0	0.008291	0	8	12				
KLK2	3817	broad.mit.edu	37	19	51379746	51379746	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:51379746G>A	ENST00000325321.3	+	3	450	c.225G>A	c.(223-225)ctG>ctA	p.L75L	KLK2_ENST00000358049.4_Silent_p.L75L|KLK2_ENST00000391810.2_5'UTR|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		AGGTCTGGCTGGGTCGGCACA	0.572			T	ETV4	prostate																																		uc002ptv.2		NA		Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate		0				ovary(1)|skin(1)	2						c.(223-225)CTG>CTA		kallikrein 2, prostatic isoform 1							42.0	41.0	41.0					19																	51379746		2203	4300	6503	SO:0001819	synonymous_variant	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51379746G>A	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.225G>A	19.37:g.51379746G>A						KLK2_uc010eog.2_5'UTR|KLK2_uc010yck.1_Silent_p.L75L|KLK2_uc002ptu.2_Silent_p.L75L|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Silent_p.L58L|KLK2_uc010ycm.1_5'UTR|KLK2_uc010eoh.2_5'UTR	p.L75L	NM_005551	NP_005542	P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	3	266	+		all_neural(266;0.026)	75			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Silent	SNP	ENST00000325321.3	37	c.225G>A	CCDS12808.1																																																																																				0.572	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		7	11	0	0	0	0.001984	0	7	11				
KLK4	9622	broad.mit.edu	37	19	51410274	51410274	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:51410274C>A	ENST00000324041.1	-	5	680	c.681G>T	c.(679-681)ccG>ccT	p.P227P	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTTGGCCACACGGGGCTTTTC	0.547																																							uc002pua.1		NA																	0					0						c.(679-681)CCG>CCT		kallikrein-related peptidase 4 preproprotein							87.0	85.0	86.0					19																	51410274		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51410274C>A	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.681G>T	19.37:g.51410274C>A						KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.P132P|KLK4_uc002puc.1_RNA	p.P227P	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	5	681	-		all_neural(266;0.026)	227			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.681G>T	CCDS12809.1																																																																																				0.547	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		18	56	1	0	1.37522e-17	0.007413	2.46352e-17	18	56				
LOC101928517	101928517	broad.mit.edu	37	19	51670964	51670964	+	RNA	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:51670964A>G	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							TCAACTCAAAAAGTGCAGAAG	0.557																																							uc010ycv.1		NA																	0					0						c.(307-309)AAA>AGA		SubName: Full=cDNA FLJ56974, moderately similar to Myeloid cell surface antigen CD33;																																						284367							g.chr19:51670964A>G																													19.37:g.51670964A>G						SIGLECP3_uc010ycu.1_Missense_Mutation_p.K103R|SIGLECP3_uc002pvy.3_Missense_Mutation_p.K103R|SIGLECP3_uc002pvz.3_Missense_Mutation_p.K103R	p.K103R							2	318	+									Missense_Mutation	SNP	ENST00000600074.1	37	c.308A>G		.	.	.	.	.	.	.	.	.	.	.	10.69	1.422293	0.25639	.	.	ENSG00000171101	ENST00000305812;ENST00000341811	.	.	.	2.65	-1.5	0.08691	.	1.069320	0.07488	U	0.905090	T	0.45955	0.1368	.	.	.	.	.	.	P;P	0.50156	0.932;0.888	P;P	0.57009	0.796;0.811	T	0.44050	-0.9353	7	0.29301	T	0.29	.	4.1511	0.10238	0.3537:0.4513:0.0:0.195	.	57;83	B4DW22;Q9P0F8	.;.	R	82;57	.	ENSP00000303760:K82R	K	+	2	0	AC063977.1	56362776	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.807000	0.04520	-0.787000	0.04510	0.378000	0.23410	AAA		0.557	CTD-3187F8.14-001	KNOWN	basic	antisense	antisense	OTTHUMT00000465635.1			4	10	0	0	0	0.009096	0	4	10				
SIGLEC10	89790	broad.mit.edu	37	19	51918453	51918453	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:51918453G>T	ENST00000339313.5	-	7	1428	c.1312C>A	c.(1312-1314)Ctc>Atc	p.L438I	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L438I|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.L380I|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.L438I|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.L290I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L380I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.L390I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.L348I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.L355I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	438	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAGAGGCTGAGAGAGACGTGC	0.657																																							uc002pwo.2		NA																	0				skin(1)	1						c.(1312-1314)CTC>ATC		sialic acid binding Ig-like lectin 10 precursor							71.0	66.0	68.0					19																	51918453		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918453G>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1312C>A	19.37:g.51918453G>T	ENSP00000345243:p.Leu438Ile					SIGLEC10_uc002pwp.2_Missense_Mutation_p.L380I|SIGLEC10_uc002pwq.2_Missense_Mutation_p.L380I|SIGLEC10_uc002pwr.2_Missense_Mutation_p.L438I|SIGLEC10_uc010ycy.1_Missense_Mutation_p.L348I|SIGLEC10_uc010ycz.1_Missense_Mutation_p.L390I|SIGLEC10_uc010eow.2_Missense_Mutation_p.L250I|SIGLEC10_uc002pws.1_Missense_Mutation_p.L274I	p.L438I	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	7	1928	-		all_neural(266;0.0199)	438			Ig-like C2-type 3.|Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1312C>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	8.380	0.837290	0.16891	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.84	2.62	0.31277	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.350012	0.21340	N	0.076154	T	0.31827	0.0809	M	0.76838	2.35	0.09310	N	1	P;B;D;P;D;D;D;D	0.71674	0.883;0.349;0.995;0.855;0.994;0.998;0.992;0.974	P;B;D;B;D;D;P;P	0.71870	0.8;0.256;0.975;0.443;0.958;0.971;0.781;0.828	T	0.06935	-1.0799	10	0.66056	D	0.02	.	6.4207	0.21742	0.1012:0.185:0.7138:0.0	.	390;348;438;290;438;380;380;438	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	438;355;290;438;380;348;380;390;438	ENSP00000342389:L438I;ENSP00000396742:L355I;ENSP00000395475:L290I;ENSP00000348646:L438I;ENSP00000408387:L380I;ENSP00000431444:L348I;ENSP00000389132:L380I;ENSP00000414324:L390I;ENSP00000345243:L438I	ENSP00000345243:L438I	L	-	1	0	SIGLEC10	56610265	0.278000	0.24230	0.005000	0.12908	0.381000	0.30169	0.626000	0.24492	0.421000	0.25980	0.561000	0.74099	CTC		0.657	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		13	43	1	0	2.27111e-07	0.001368	3.08624e-07	13	43				
SIGLEC12	89858	broad.mit.edu	37	19	52004947	52004947	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:52004947C>A	ENST00000291707.3	-	1	96	c.41G>T	c.(40-42)gGg>gTg	p.G14V	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	14					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCCACTCTCCCACAGagcag	0.572																																							uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(40-42)GGG>GTG		sialic acid binding immunoglobulin-like							58.0	42.0	47.0					19																	52004947		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004947C>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.41G>T	19.37:g.52004947C>A	ENSP00000291707:p.Gly14Val					SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.G14V	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	97	-		all_neural(266;0.0199)	14					Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.41G>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.307165	0.23821	.	.	ENSG00000254521	ENST00000291707	T	0.51817	0.69	2.09	1.01	0.19927	Immunoglobulin-like (1);	0.837651	0.09791	N	0.755404	T	0.37972	0.1023	L	0.53617	1.68	0.24258	N	0.995291	D	0.59357	0.985	B	0.40659	0.336	T	0.40270	-0.9572	10	0.87932	D	0	.	4.0262	0.09688	0.0:0.7759:0.0:0.2241	.	14	Q96PQ1	SIG12_HUMAN	V	14	ENSP00000291707:G14V	ENSP00000291707:G14V	G	-	2	0	SIGLEC12	56696759	0.000000	0.05858	0.350000	0.25708	0.265000	0.26407	-0.243000	0.08915	1.173000	0.42796	0.503000	0.49774	GGG		0.572	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		13	10	1	0	5.50884e-06	0.001368	6.94735e-06	13	10				
ZNF578	147660	broad.mit.edu	37	19	53013861	53013861	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:53013861C>T	ENST00000421239.2	+	6	471	c.227C>T	c.(226-228)tCa>tTa	p.S76L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GAGGTCTTGTCAACAGGGCAA	0.383																																							uc002pzp.3		NA																	0					0						c.(226-228)TCA>TTA		zinc finger protein 578							139.0	141.0	140.0					19																	53013861		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53013861C>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.227C>T	19.37:g.53013861C>T	ENSP00000459216:p.Ser76Leu						p.S76L	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	471	+			Error:Variant_position_missing_in_Q96N58_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.227C>T	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	6.626	0.483989	0.12581	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	T	0.47710	0.1460	L	0.43923	1.385	0.09310	N	1	D	0.57899	0.981	D	0.66351	0.943	T	0.23619	-1.0183	7	.	.	.	.	4.6627	0.12650	0.3694:0.6306:0.0:0.0	.	76	G3V4F6	.	L	76	.	.	S	+	2	0	ZNF578	57705673	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.335000	0.07873	0.681000	0.31386	0.134000	0.15878	TCA		0.383	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		23	72	0	0	0	0.00278	0	23	72				
ZNF813	126017	broad.mit.edu	37	19	53994294	53994294	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:53994294C>A	ENST00000396403.4	+	4	936	c.808C>A	c.(808-810)Cct>Act	p.P270T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TGGGGAGAAACCTTACAGGTG	0.423																																							uc002qbu.2		NA																	0				large_intestine(1)	1						c.(808-810)CCT>ACT		zinc finger protein 813							78.0	80.0	79.0					19																	53994294		2201	4300	6501	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994294C>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.808C>A	19.37:g.53994294C>A	ENSP00000379684:p.Pro270Thr					ZNF813_uc010eqq.1_Intron	p.P270T	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	936	+			270						Missense_Mutation	SNP	ENST00000396403.4	37	c.808C>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	c	10.67	1.416117	0.25552	.	.	ENSG00000198346	ENST00000396403	T	0.28895	1.59	1.32	1.32	0.21799	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30885	0.0779	M	0.71206	2.165	0.80722	D	1	B	0.26975	0.165	B	0.32211	0.142	T	0.16188	-1.0411	9	0.66056	D	0.02	.	5.2027	0.15273	0.0:0.7836:0.0:0.2164	.	270	Q6ZN06	ZN813_HUMAN	T	270	ENSP00000379684:P270T	ENSP00000379684:P270T	P	+	1	0	ZNF813	58686106	0.000000	0.05858	0.030000	0.17652	0.060000	0.15804	0.574000	0.23714	0.461000	0.27071	0.197000	0.17608	CCT		0.423	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		3	48	1	0	0.004672	0.004672	0.00503002	3	48				
LILRA5	353514	broad.mit.edu	37	19	54818758	54818758	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:54818758C>A	ENST00000301219.3	-	7	959	c.840G>T	c.(838-840)ggG>ggT	p.G280G	LILRA5_ENST00000346508.3_Silent_p.G268G|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	280					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATATCAGAATCCCAAGGACCA	0.532																																							uc002qfe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(838-840)GGG>GGT		leukocyte immunoglobulin-like receptor subfamily							93.0	89.0	90.0					19																	54818758		2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54818758C>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.840G>T	19.37:g.54818758C>A						LILRA5_uc002qff.2_Silent_p.G268G	p.G280G	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	960	-	Ovarian(34;0.19)		280			Helical; (Potential).		A6NHI3	Silent	SNP	ENST00000301219.3	37	c.840G>T	CCDS12888.1																																																																																				0.532	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		32	15	1	0	1.30988e-24	0.010818	2.48249e-24	32	15				
LILRA4	23547	broad.mit.edu	37	19	54850149	54850149	+	Silent	SNP	G	G	T	rs149986255	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:54850149G>T	ENST00000291759.4	-	2	114	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	20					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCCTGCACCCGGGTCCTGGGG	0.622											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc002qfj.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(58-60)CGG>AGG		leukocyte immunoglobulin-like receptor subfamily							60.0	65.0	63.0					19																	54850149		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54850149G>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.58C>A	19.37:g.54850149G>T			OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003	LILRA4_uc002qfi.2_5'UTR	p.R20R	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	2	115	-	Ovarian(34;0.19)		20					Q32MC4	Silent	SNP	ENST00000291759.4	37	c.58C>A	CCDS12890.1																																																																																				0.622	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		25	24	1	0	2.79863e-10	0.004656	4.27848e-10	25	24				
LILRB4	11006	broad.mit.edu	37	19	55175231	55175231	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:55175231C>A	ENST00000391736.1	+	5	405	c.90C>A	c.(88-90)acC>acA	p.T30T	LILRB4_ENST00000270452.2_Silent_p.T30T|LILRB4_ENST00000430952.2_Silent_p.T30T|LILRB4_ENST00000391734.3_Silent_p.T30T|LILRB4_ENST00000391733.3_Silent_p.T30T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	30	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCAAACCCACCCTCTGGGCTG	0.622																																							uc002qgp.2		NA																	0				ovary(3)	3						c.(88-90)ACC>ACA		leukocyte immunoglobulin-like receptor,							49.0	55.0	53.0					19																	55175231		2202	4299	6501	SO:0001819	synonymous_variant	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175231C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.90C>A	19.37:g.55175231C>A						LILRB4_uc002qgo.1_Silent_p.T71T|LILRB4_uc002qgq.2_Silent_p.T30T|LILRB4_uc010ers.1_Intron|LILRB4_uc002qgr.2_Silent_p.T71T|LILRB4_uc010ert.2_Silent_p.T71T|LILRB4_uc010eru.2_Silent_p.T59T	p.T30T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	3	452	+			30			Ig-like C2-type 1.|Extracellular (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.90C>A	CCDS12902.1																																																																																				0.622	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			12	48	1	0	0.00010058	0.001368	0.000118575	12	48				
LILRB4	11006	broad.mit.edu	37	19	55177354	55177354	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:55177354C>A	ENST00000391736.1	+	9	1161	c.846C>A	c.(844-846)caC>caA	p.H282Q	LILRB4_ENST00000270452.2_Missense_Mutation_p.H282Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.H282Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.H282Q|LILRB4_ENST00000391733.3_Missense_Mutation_p.H282Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	282					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		tcctccAACACTGGCGTCAGG	0.587																																							uc002qgp.2		NA																	0				ovary(3)	3						c.(844-846)CAC>CAA		leukocyte immunoglobulin-like receptor,							149.0	95.0	113.0					19																	55177354		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55177354C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.846C>A	19.37:g.55177354C>A	ENSP00000375616:p.His282Gln					LILRB4_uc002qgq.2_Missense_Mutation_p.H282Q|LILRB4_uc002qgr.2_Missense_Mutation_p.H323Q|LILRB4_uc010ert.2_Missense_Mutation_p.H323Q|LILRB4_uc010eru.2_Missense_Mutation_p.H311Q	p.H282Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	7	1208	+			282			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.846C>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	5.740	0.320973	0.10845	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00484	7.17;7.17;7.17;7.13;7.19;7.08	1.86	-2.04	0.07343	.	.	.	.	.	T	0.00300	0.0009	L	0.46157	1.445	0.09310	N	1	B;P;P;B;B	0.45827	0.272;0.851;0.867;0.183;0.421	B;B;B;B;B	0.37346	0.058;0.208;0.247;0.039;0.054	T	0.42616	-0.9441	9	0.44086	T	0.13	.	2.8825	0.05652	0.0:0.434:0.2428:0.3232	.	282;281;282;282;282	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	Q	282;282;282;282;282;281	ENSP00000375616:H282Q;ENSP00000270452:H282Q;ENSP00000408995:H282Q;ENSP00000375614:H282Q;ENSP00000375613:H282Q;ENSP00000401962:H281Q	ENSP00000270452:H282Q	H	+	3	2	LILRB4	59869166	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.656000	0.05342	-0.410000	0.07542	0.407000	0.27541	CAC		0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			20	18	1	0	1.00905e-13	0.008871	1.69003e-13	20	18				
NLRP7	199713	broad.mit.edu	37	19	55449504	55449504	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:55449504A>G	ENST00000590030.1	-	4	2077	c.2037T>C	c.(2035-2037)ttT>ttC	p.F679F	NLRP7_ENST00000340844.2_Silent_p.F679F|NLRP7_ENST00000448121.2_Silent_p.F651F|NLRP7_ENST00000328092.5_Silent_p.F651F|NLRP7_ENST00000446217.1_Silent_p.F707F|NLRP7_ENST00000592784.1_Silent_p.F679F|NLRP7_ENST00000588756.1_Silent_p.F679F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	679							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCACTTCCAGAAACTTGAGGT	0.493																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2035-2037)TTT>TTC		NACHT, leucine rich repeat and PYD containing 7							148.0	151.0	150.0					19																	55449504		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55449504A>G	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2037T>C	19.37:g.55449504A>G						NLRP7_uc002qig.3_Silent_p.F651F|NLRP7_uc002qii.3_Silent_p.F679F|NLRP7_uc010esk.2_Silent_p.F679F|NLRP7_uc010esl.2_Silent_p.F707F	p.F679F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2113	-			679			LRR 2.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.2037T>C	CCDS33109.1																																																																																				0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		14	111	0	0	0	0.001855	0	14	111				
EPN1	29924	broad.mit.edu	37	19	56203177	56203177	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:56203177G>T	ENST00000270460.6	+	7	1131	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Missense_Mutation_p.D360Y|EPN1_ENST00000085079.7_Missense_Mutation_p.D249Y	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	274	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCGACCACAGACCCCTGGGG	0.692																																							uc002qlw.2		NA																	0					0						c.(820-822)GAC>TAC		epsin 1 isoform b							46.0	53.0	50.0					19																	56203177		1893	4093	5986	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56203177G>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.820G>T	19.37:g.56203177G>T	ENSP00000270460:p.Asp274Tyr					EPN1_uc002qlv.2_Missense_Mutation_p.D249Y|EPN1_uc010etd.2_Missense_Mutation_p.D274Y|EPN1_uc002qlx.2_Missense_Mutation_p.D360Y	p.D274Y	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	7	1162	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	274			Ala/Gly/Pro-rich.|1.|8 X 3 AA repeats of [ED]-P-W.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.820G>T	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643260	0.29246	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.19394	2.19;2.16;2.15	3.05	3.05	0.35203	.	0.308493	0.24967	N	0.034178	T	0.45955	0.1368	M	0.80508	2.5	0.44500	D	0.997444	D;D;D;D	0.89917	0.99;1.0;0.99;0.994	P;D;P;P	0.68353	0.778;0.957;0.778;0.889	T	0.54563	-0.8275	10	0.62326	D	0.03	-13.3811	14.0049	0.64456	0.0:0.0:1.0:0.0	.	235;360;274;249	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	Y	274;249;235;360	ENSP00000270460:D274Y;ENSP00000085079:D249Y;ENSP00000406209:D360Y	ENSP00000085079:D249Y	D	+	1	0	EPN1	60894989	0.799000	0.28903	0.875000	0.34327	0.097000	0.18754	4.222000	0.58580	2.030000	0.59900	0.462000	0.41574	GAC		0.692	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		25	25	1	0	1.55469e-16	0.00333	2.74453e-16	25	25				
PEG3	5178	broad.mit.edu	37	19	57325715	57325715	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:57325715T>A	ENST00000326441.9	-	10	4458	c.4095A>T	c.(4093-4095)gcA>gcT	p.A1365A	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.A1241A|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.A1239A|PEG3_ENST00000423103.2_Silent_p.A1365A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1365	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ctgctgcagctgctgctgctT	0.468																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4093-4095)GCA>GCT		paternally expressed 3 isoform 1							41.0	39.0	40.0					19																	57325715		2203	4299	6502	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325715T>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4095A>T	19.37:g.57325715T>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.A1336A|PEG3_uc002qnv.2_Silent_p.A1365A|PEG3_uc002qnw.2_Silent_p.A1241A|PEG3_uc002qnx.2_Silent_p.A1239A|PEG3_uc010etr.2_Silent_p.A1365A	p.A1365A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4446	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1365			Glu-rich.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.4095A>T	CCDS12948.1																																																																																				0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			13	27	0	0	0	0.001368	0	13	27				
ZNF460	10794	broad.mit.edu	37	19	57803294	57803294	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:57803294A>G	ENST00000360338.3	+	3	1707	c.1385A>G	c.(1384-1386)aAc>aGc	p.N462S	ZNF460_ENST00000537645.1_Missense_Mutation_p.N421S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGACCACAAACCTGATTCGA	0.532																																							uc002qog.2		NA																	0					0						c.(1384-1386)AAC>AGC		zinc finger protein 460							141.0	122.0	129.0					19																	57803294		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803294A>G	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1385A>G	19.37:g.57803294A>G	ENSP00000353491:p.Asn462Ser					ZNF460_uc010ygv.1_Missense_Mutation_p.N421S	p.N462S	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1707	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	462			C2H2-type 10.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1385A>G	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	A	1.533	-0.543737	0.04053	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.19938	2.11;2.11	1.68	0.637	0.17735	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	N	0.05467	-0.045	0.09310	N	1	B	0.22851	0.076	B	0.11329	0.006	T	0.36841	-0.9731	9	0.02654	T	1	.	2.4431	0.04499	0.604:0.0:0.1582:0.2378	.	462	Q14592	ZN460_HUMAN	S	421;462	ENSP00000446167:N421S;ENSP00000353491:N462S	ENSP00000353491:N462S	N	+	2	0	ZNF460	62495106	0.000000	0.05858	0.022000	0.16811	0.892000	0.51952	-0.477000	0.06583	0.124000	0.18369	0.528000	0.53228	AAC		0.532	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		14	36	0	0	0	0.003163	0	14	36				
ZNF416	55659	broad.mit.edu	37	19	58084091	58084091	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:58084091C>A	ENST00000196489.3	-	4	1403	c.1181G>T	c.(1180-1182)aGc>aTc	p.S394I		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGCTGAAGCTTTGTCTGAA	0.453																																							uc002qpf.2		NA																	0					0						c.(1180-1182)AGC>ATC		zinc finger protein 416							119.0	105.0	110.0					19																	58084091		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084091C>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1181G>T	19.37:g.58084091C>A	ENSP00000196489:p.Ser394Ile					ZNF547_uc002qpm.3_Intron	p.S394I	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1352	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	394			C2H2-type 6.		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1181G>T	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848538	0.32699	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.10288	2.89	3.58	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	L	0.49571	1.57	0.09310	N	1	B	0.20459	0.045	B	0.16722	0.016	T	0.36939	-0.9727	9	0.33141	T	0.24	.	4.4143	0.11448	0.1532:0.3809:0.0:0.4659	.	394	Q9BWM5	ZN416_HUMAN	I	394;353;292	ENSP00000196489:S394I	ENSP00000196489:S394I	S	-	2	0	ZNF416	62775903	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.961000	0.03845	-0.562000	0.06086	0.655000	0.94253	AGC		0.453	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		26	23	1	0	1.5548e-18	0.005443	2.82087e-18	26	23				
ZNF416	55659	broad.mit.edu	37	19	58084093	58084093	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:58084093T>G	ENST00000196489.3	-	4	1401	c.1179A>C	c.(1177-1179)caA>caC	p.Q393H		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGCTGAAGCTTTGTCTGAATA	0.453																																							uc002qpf.2		NA																	0					0						c.(1177-1179)CAA>CAC		zinc finger protein 416							118.0	105.0	109.0					19																	58084093		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084093T>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1179A>C	19.37:g.58084093T>G	ENSP00000196489:p.Gln393His					ZNF547_uc002qpm.3_Intron	p.Q393H	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1350	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	393			C2H2-type 6.		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1179A>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732785	0.30684	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.05513	3.43	3.58	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06508	0.0167	N	0.20610	0.595	0.09310	N	1	D	0.71674	0.998	D	0.64595	0.927	T	0.20438	-1.0275	9	0.16896	T	0.51	.	0.742	0.00975	0.2695:0.2775:0.2761:0.177	.	393	Q9BWM5	ZN416_HUMAN	H	393;352;291	ENSP00000196489:Q393H	ENSP00000196489:Q393H	Q	-	3	2	ZNF416	62775905	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-6.247000	0.00074	-0.665000	0.05317	-0.408000	0.06270	CAA		0.453	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		28	21	0	0	0	0.008361	0	28	21				
ZNF606	80095	broad.mit.edu	37	19	58490783	58490783	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:58490783T>A	ENST00000341164.4	-	7	1885	c.1265A>T	c.(1264-1266)cAt>cTt	p.H422L	ZNF606_ENST00000536132.1_Missense_Mutation_p.H332L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H422R(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTCTCCAGTATGAGTTTTCTT	0.398																																							uc002qqw.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1264-1266)CAT>CTT		zinc finger protein 606							49.0	50.0	50.0					19																	58490783		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490783T>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1265A>T	19.37:g.58490783T>A	ENSP00000343617:p.His422Leu					ZNF606_uc010yhp.1_Missense_Mutation_p.H332L	p.H422L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1883	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	422			C2H2-type 3; degenerate.		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1265A>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503406	0.44558	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.67345	-0.26;-0.26;-0.26	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144593	0.32548	N	0.005942	D	0.83161	0.5194	H	0.95539	3.685	0.42739	D	0.993733	D	0.58970	0.984	P	0.55112	0.769	D	0.88671	0.3195	10	0.87932	D	0	.	13.4575	0.61208	0.0:0.0:0.0:1.0	.	422	Q8WXB4	ZN606_HUMAN	L	422;332;422	ENSP00000343617:H422L;ENSP00000445624:H332L;ENSP00000446972:H422L	ENSP00000343617:H422L	H	-	2	0	ZNF606	63182595	1.000000	0.71417	0.975000	0.42487	0.919000	0.55068	3.050000	0.49877	2.075000	0.62263	0.533000	0.62120	CAT		0.398	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		22	11	0	0	0	0.010504	0	22	11				
ZNF274	10782	broad.mit.edu	37	19	58724056	58724056	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:58724056G>T	ENST00000326804.4	+	9	1965	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.G470G|ZNF274_ENST00000424679.2_Silent_p.G397G	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TTCACAAGGGGAGCCAAGTTT	0.433																																							uc002qrq.1		NA																	0				ovary(1)	1						c.(1507-1509)GGG>GGT		zinc finger protein 274 isoform c							88.0	91.0	90.0					19																	58724056		1901	4113	6014	SO:0001819	synonymous_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58724056G>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1506G>T	19.37:g.58724056G>T						ZNF274_uc002qrr.1_Silent_p.G471G|ZNF274_uc002qrs.1_Silent_p.G398G|ZNF274_uc010eum.1_Silent_p.G262G	p.G503G	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	1968	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	503					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37	c.1509G>T																																																																																					0.433	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		26	53	1	0	7.88262e-20	0.00333	1.45184e-19	26	53				
MYT1L	23040	broad.mit.edu	37	2	1805558	1805558	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:1805558A>G	ENST00000399161.2	-	23	3933	c.3186T>C	c.(3184-3186)gaT>gaC	p.D1062D	MYT1L_ENST00000428368.2_Silent_p.D1060D|MYT1L_ENST00000407844.1_Silent_p.D58D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1062					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGATTTCTTCATCATTTTCTA	0.294																																							uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(3184-3186)GAT>GAC		myelin transcription factor 1-like							168.0	158.0	161.0					2																	1805558		1792	4066	5858	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1805558A>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3186T>C	2.37:g.1805558A>G						MYT1L_uc002qxd.2_Silent_p.D1060D|MYT1L_uc010ewk.2_Silent_p.D58D	p.D1062D	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	23	4013	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1062			Potential.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.3186T>C																																																																																					0.294	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		13	74	0	0	0	0.001855	0	13	74				
MYT1L	23040	broad.mit.edu	37	2	1891331	1891331	+	Silent	SNP	G	G	A	rs368649268		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:1891331G>A	ENST00000399161.2	-	17	3318	c.2571C>T	c.(2569-2571)ccC>ccT	p.P857P	MYT1L_ENST00000428368.2_Silent_p.P855P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	857					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCACCTCCCCGGGATACCGTC	0.502																																							uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(2569-2571)CCC>CCT		myelin transcription factor 1-like		G		8,3842		0,8,1917	175.0	171.0	172.0		2565	-11.1	0.2	2		172	0,8254		0,0,4127	no	coding-synonymous	MYT1L	NM_015025.2		0,8,6044	AA,AG,GG		0.0,0.2078,0.0661		855/1185	1891331	8,12096	1925	4127	6052	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1891331G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2571C>T	2.37:g.1891331G>A						MYT1L_uc002qxd.2_Silent_p.P855P|MYT1L_uc010ewl.1_RNA	p.P857P	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	17	3398	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	857					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2571C>T																																																																																					0.502	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		57	50	0	0	0	0.00361	0	57	50				
ID2	3398	broad.mit.edu	37	2	8823008	8823008	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:8823008C>G	ENST00000234091.4	+	4	1244	c.384C>G	c.(382-384)gaC>gaG	p.D128E	ID2_ENST00000396290.1_Missense_Mutation_p.D128E|AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000331129.3_Missense_Mutation_p.D128E			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	128					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTCAAATGACAGCAAAGCAC	0.458																																							uc010yiu.1		NA																	0					0						c.(382-384)GAC>GAG		inhibitor of DNA binding 2							132.0	139.0	137.0					2																	8823008		2203	4300	6503	SO:0001583	missense	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8823008C>G		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.384C>G	2.37:g.8823008C>G	ENSP00000234091:p.Asp128Glu					ID2_uc002qza.2_Missense_Mutation_p.D128E	p.D128E	NM_002166	NP_002157	Q02363	ID2_HUMAN			4	879	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		128						Missense_Mutation	SNP	ENST00000234091.4	37	c.384C>G	CCDS1659.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092212	0.36952	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	.	.	.	5.71	3.78	0.43462	.	0.334631	0.37623	N	0.002003	T	0.51584	0.1683	L	0.41710	1.295	0.47949	D	0.999555	B	0.10296	0.003	B	0.10450	0.005	T	0.48080	-0.9066	9	0.33141	T	0.24	-30.3202	12.358	0.55186	0.0:0.7251:0.2053:0.0696	.	128	Q02363	ID2_HUMAN	E	128	.	ENSP00000234091:D128E	D	+	3	2	ID2	8740459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.030000	0.41108	1.385000	0.46445	0.555000	0.69702	GAC		0.458	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		11	69	0	0	0	0.00245	0	11	69				
MSGN1	343930	broad.mit.edu	37	2	17998011	17998011	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:17998011A>C	ENST00000281047.3	+	1	249	c.226A>C	c.(226-228)Agt>Cgt	p.S76R		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	76					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGGGGCCAGCAGTGGGGGCAG	0.637																																					Melanoma(127;325 1712 14802 40657 49130)	Melanoma(127;325 1712 14802 40657 49130)	uc010yjt.1		NA																	0				ovary(1)	1						c.(226-228)AGT>CGT		mesogenin 1							38.0	43.0	42.0					2																	17998011		1932	4120	6052	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998011A>C		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.226A>C	2.37:g.17998011A>C	ENSP00000281047:p.Ser76Arg						p.S76R	NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN			1	226	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		76						Missense_Mutation	SNP	ENST00000281047.3	37	c.226A>C	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	A	8.437	0.850029	0.17034	.	.	ENSG00000151379	ENST00000281047	T	0.17691	2.26	5.6	-6.68	0.01778	.	1.004640	0.08014	N	0.990839	T	0.09642	0.0237	L	0.36672	1.1	0.09310	N	1	B	0.23735	0.09	B	0.21360	0.034	T	0.42783	-0.9431	10	0.13108	T	0.6	-19.8448	7.6496	0.28340	0.346:0.3218:0.3322:0.0	.	76	A6NI15	MSGN1_HUMAN	R	76	ENSP00000281047:S76R	ENSP00000281047:S76R	S	+	1	0	MSGN1	17861492	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	-0.721000	0.04963	-0.456000	0.07043	0.533000	0.62120	AGT		0.637	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		19	36	0	0	0	0.007413	0	19	36				
APOB	338	broad.mit.edu	37	2	21225603	21225603	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:21225603C>A	ENST00000233242.1	-	29	12818	c.12691G>T	c.(12691-12693)Gta>Tta	p.V4231L	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4231					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCGAATATACCTGGGACAGT	0.418																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12691-12693)GTA>TTA		apolipoprotein B precursor	Atorvastatin(DB01076)						87.0	92.0	91.0					2																	21225603		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225603C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12691G>T	2.37:g.21225603C>A	ENSP00000233242:p.Val4231Leu						p.V4231L	NM_000384	NP_000375	P04114	APOB_HUMAN			29	12819	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4231					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12691G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520453	0.27211	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00682	5.86	5.84	3.98	0.46160	.	1.006940	0.07992	N	0.987236	T	0.01124	0.0037	L	0.42245	1.32	0.58432	D	0.999993	B	0.12630	0.006	B	0.09377	0.004	T	0.55554	-0.8123	10	0.15952	T	0.53	.	12.6454	0.56731	0.1284:0.741:0.1306:0.0	.	4231	P04114	APOB_HUMAN	L	4231	ENSP00000233242:V4231L	ENSP00000233242:V4231L	V	-	1	0	APOB	21079108	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.043000	0.12043	0.748000	0.32831	0.655000	0.94253	GTA		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			3	38	1	0	0.004672	0.004672	0.00503002	3	38				
APOB	338	broad.mit.edu	37	2	21227239	21227239	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:21227239T>G	ENST00000233242.1	-	28	12116	c.11989A>C	c.(11989-11991)Atc>Ctc	p.I3997L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3997					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGTGGAGATGCCTTTCTTG	0.502																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11989-11991)ATC>CTC		apolipoprotein B precursor	Atorvastatin(DB01076)						135.0	127.0	130.0					2																	21227239		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21227239T>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11989A>C	2.37:g.21227239T>G	ENSP00000233242:p.Ile3997Leu						p.I3997L	NM_000384	NP_000375	P04114	APOB_HUMAN			28	12117	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3997					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11989A>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	8.330	0.826365	0.16749	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.16324	2.35	5.9	-11.8	0.00035	.	1.623100	0.03374	N	0.199427	T	0.02929	0.0087	N	0.00686	-1.255	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33777	-0.9855	10	0.17832	T	0.49	.	1.9975	0.03459	0.3428:0.313:0.0859:0.2583	.	3997	P04114	APOB_HUMAN	L	3997	ENSP00000233242:I3997L	ENSP00000233242:I3997L	I	-	1	0	APOB	21080744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.456000	0.02377	-1.964000	0.01012	-1.560000	0.00886	ATC		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			36	32	0	0	0	0.004289	0	36	32				
APOB	338	broad.mit.edu	37	2	21228567	21228567	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:21228567C>A	ENST00000233242.1	-	26	11300	c.11173G>T	c.(11173-11175)Gtt>Ttt	p.V3725F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3725					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCCAAAACTTTTACAGGG	0.408																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11173-11175)GTT>TTT		apolipoprotein B precursor	Atorvastatin(DB01076)						98.0	103.0	101.0					2																	21228567		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228567C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11173G>T	2.37:g.21228567C>A	ENSP00000233242:p.Val3725Phe						p.V3725F	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11301	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3725					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11173G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343904	0.41498	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.68903	-0.36	5.53	3.58	0.41010	.	0.360534	0.23937	N	0.043092	T	0.49098	0.1537	N	0.22421	0.69	0.80722	D	1	P	0.34562	0.457	B	0.36335	0.222	T	0.50923	-0.8770	10	0.62326	D	0.03	.	5.3052	0.15799	0.0:0.4794:0.3671:0.1535	.	3725	P04114	APOB_HUMAN	F	3725	ENSP00000233242:V3725F	ENSP00000233242:V3725F	V	-	1	0	APOB	21082072	0.954000	0.32549	0.999000	0.59377	0.085000	0.17905	0.670000	0.25157	1.297000	0.44761	0.655000	0.94253	GTT		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	73	1	0	1.06961e-07	0.00308	1.48315e-07	7	73				
APOB	338	broad.mit.edu	37	2	21234458	21234458	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:21234458C>A	ENST00000233242.1	-	26	5409	c.5282G>T	c.(5281-5283)gGc>gTc	p.G1761V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1761					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGATAAGCCTGCAATGTT	0.383																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5281-5283)GGC>GTC		apolipoprotein B precursor	Atorvastatin(DB01076)						135.0	129.0	131.0					2																	21234458		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234458C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5282G>T	2.37:g.21234458C>A	ENSP00000233242:p.Gly1761Val						p.G1761V	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5410	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1761					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5282G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667485	0.47677	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00816	5.66	5.8	4.93	0.64822	.	0.101898	0.42964	D	0.000629	T	0.01523	0.0049	M	0.62723	1.935	0.80722	D	1	P	0.43431	0.807	B	0.34931	0.192	T	0.64214	-0.6460	10	0.56958	D	0.05	.	14.6274	0.68632	0.0:0.9304:0.0:0.0696	.	1761	P04114	APOB_HUMAN	V	1761	ENSP00000233242:G1761V	ENSP00000233242:G1761V	G	-	2	0	APOB	21087963	0.997000	0.39634	0.854000	0.33618	0.987000	0.75469	3.692000	0.54727	1.467000	0.48044	0.650000	0.86243	GGC		0.383	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			54	50	1	0	2.76378e-25	0.00361	5.25552e-25	54	50				
APOB	338	broad.mit.edu	37	2	21249662	21249662	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:21249662G>T	ENST00000233242.1	-	15	2369	c.2242C>A	c.(2242-2244)Cag>Aag	p.Q748K	APOB_ENST00000399256.4_Missense_Mutation_p.Q748K	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	748					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACACACCTGCTCATGTTTA	0.378																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2242-2244)CAG>AAG		apolipoprotein B precursor	Atorvastatin(DB01076)						128.0	126.0	127.0					2																	21249662		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21249662G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2242C>A	2.37:g.21249662G>T	ENSP00000233242:p.Gln748Lys						p.Q748K	NM_000384	NP_000375	P04114	APOB_HUMAN			15	2370	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		748					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2242C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735320	0.48939	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.17054	2.3;2.3	5.2	5.2	0.72013	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.000000	0.64402	D	0.000019	T	0.38081	0.1027	M	0.82323	2.585	0.37246	D	0.90633	P	0.43788	0.817	P	0.49012	0.598	T	0.44329	-0.9335	10	0.56958	D	0.05	.	19.636	0.95733	0.0:0.0:1.0:0.0	.	748	P04114	APOB_HUMAN	K	748	ENSP00000233242:Q748K;ENSP00000382200:Q748K	ENSP00000233242:Q748K	Q	-	1	0	APOB	21103167	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	4.981000	0.63819	2.814000	0.96858	0.655000	0.94253	CAG		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	52	1	0	0.00909568	0.009096	0.00964006	4	52				
OTOF	9381	broad.mit.edu	37	2	26691303	26691303	+	Missense_Mutation	SNP	C	C	T	rs183309645	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:26691303C>T	ENST00000272371.2	-	33	4189	c.4063G>A	c.(4063-4065)Gag>Aag	p.E1355K	OTOF_ENST00000338581.6_Missense_Mutation_p.E588K|OTOF_ENST00000339598.3_Missense_Mutation_p.E588K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1355K|OTOF_ENST00000402415.3_Missense_Mutation_p.E665K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1355					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCCTTCTCCTCCAAGTCA	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		19671	0.002		0.0	False		,,,				2504	0.0				GBM(102;732 1451 20652 24062 31372)	GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(4063-4065)GAG>AAG		otoferlin isoform a							189.0	157.0	168.0					2																	26691303		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26691303C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4063G>A	2.37:g.26691303C>T	ENSP00000272371:p.Glu1355Lys					OTOF_uc010yla.1_Missense_Mutation_p.E85K|OTOF_uc002rhh.2_Missense_Mutation_p.E588K|OTOF_uc002rhi.2_Missense_Mutation_p.E665K|OTOF_uc002rhj.2_Missense_Mutation_p.E588K	p.E1355K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			33	4190	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1355			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4063G>A	CCDS1725.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	15.06	2.721664	0.48728	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80393	-1.11;-1.11;-1.11;-1.37;-1.37	5.62	4.75	0.60458	.	0.913568	0.08706	U	0.905714	T	0.70386	0.3218	M	0.62723	1.935	0.48571	D	0.999673	B;B;B;B	0.28713	0.22;0.006;0.161;0.002	B;B;B;B	0.24394	0.045;0.007;0.053;0.004	T	0.62263	-0.6891	10	0.07482	T	0.82	-27.2893	13.3411	0.60545	0.0:0.9237:0.0:0.0763	.	1355;588;665;588	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	K	588;588;665;1355;1355	ENSP00000345137:E588K;ENSP00000344521:E588K;ENSP00000383906:E665K;ENSP00000272371:E1355K;ENSP00000385255:E1355K	ENSP00000272371:E1355K	E	-	1	0	OTOF	26544807	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.241000	0.65384	1.382000	0.46385	0.561000	0.74099	GAG		0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			6	38	0	0	0	0.00308	0	6	38				
PRR30	339779	broad.mit.edu	37	2	27360302	27360302	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:27360302C>A	ENST00000335524.3	-	3	1421	c.896G>T	c.(895-897)gGc>gTc	p.G299V	PREB_ENST00000406567.3_5'Flank|PREB_ENST00000260643.2_5'Flank|PREB_ENST00000416802.1_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		299										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCGGAGGCCGAAGCCGAT	0.657																																							uc002rjb.2		NA																	0					0						c.(895-897)GGC>GTC		hypothetical protein LOC339779							19.0	21.0	21.0					2																	27360302		2192	4273	6465	SO:0001583	missense	339779							g.chr2:27360302C>A																												ENST00000335524.3:c.896G>T	2.37:g.27360302C>A	ENSP00000335017:p.Gly299Val					PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.G299V	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1476	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		299					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.896G>T	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262422	0.59431	.	.	ENSG00000186143	ENST00000335524	T	0.44482	0.92	4.67	3.78	0.43462	.	0.000000	0.38897	N	0.001540	T	0.47192	0.1432	L	0.32530	0.975	0.49915	D	0.999839	D	0.71674	0.998	P	0.60886	0.88	T	0.48103	-0.9064	10	0.87932	D	0	-8.0984	10.6176	0.45460	0.0:0.8054:0.1946:0.0	.	299	Q53SZ7	CB053_HUMAN	V	299	ENSP00000335017:G299V	ENSP00000335017:G299V	G	-	2	0	C2orf53	27213806	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.132000	0.42083	1.139000	0.42245	0.561000	0.74099	GGC		0.657	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			7	22	1	0	0.00198382	0.001984	0.00217721	7	22				
SPAST	6683	broad.mit.edu	37	2	32361981	32361981	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:32361981G>T	ENST00000315285.3	+	11	1482	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	SPAST_ENST00000345662.1_Missense_Mutation_p.G421W	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGAAGAGAAGGGGAGCACGA	0.333																																							uc002roc.2		NA																	0				breast(1)	1						c.(1357-1359)GGG>TGG		spastin isoform 1							113.0	121.0	119.0					2																	32361981		2203	4300	6503	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32361981G>T	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1357G>T	2.37:g.32361981G>T	ENSP00000320885:p.Gly453Trp					SPAST_uc002rod.2_Missense_Mutation_p.G421W	p.G453W	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			11	1578	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		453			Sufficient for microtubule severing.			Missense_Mutation	SNP	ENST00000315285.3	37	c.1357G>T	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648961	0.87958	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.95588	-3.75;-3.75	5.63	5.63	0.86233	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.091738	0.85682	D	0.000000	D	0.98378	0.9461	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98951	1.0794	10	0.87932	D	0	-16.1571	19.6351	0.95728	0.0:0.0:1.0:0.0	.	421;453	E5KRP6;Q9UBP0	.;SPAST_HUMAN	W	421;453	ENSP00000340817:G421W;ENSP00000320885:G453W	ENSP00000320885:G453W	G	+	1	0	SPAST	32215485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.163000	0.77524	2.805000	0.96524	0.655000	0.94253	GGG		0.333	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		6	16	1	0	0.00307968	0.00308	0.00336253	6	16				
HEATR5B	54497	broad.mit.edu	37	2	37304053	37304053	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:37304053C>A	ENST00000233099.5	-	4	543		c.e4+1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTAAAACTTACCTCTGCACTT	0.358																																							uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.e4+1		HEAT repeat containing 5B							56.0	57.0	57.0					2																	37304053		2203	4300	6503	SO:0001630	splice_region_variant	54497						binding	g.chr2:37304053C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.447+1G>T	2.37:g.37304053C>A							p.E149_splice	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			4	543	-		all_hematologic(82;0.21)						B5MDU8|Q7Z3B2|Q9NVL7	Splice_Site	SNP	ENST00000233099.5	37	c.447_splice	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180812	0.78677	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8861	0.92378	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR5B	37157557	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.555000	0.82223	2.539000	0.85634	0.491000	0.48974	.		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	Intron	21	7	1	0	8.10497e-08	0.010504	1.13217e-07	21	7				
CYP1B1	1545	broad.mit.edu	37	2	38301699	38301699	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:38301699C>A	ENST00000260630.3	-	2	1234	c.833G>T	c.(832-834)aGg>aTg	p.R278M	CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.R278M|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	278					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TTCGCAGTGCCTCAAGAACTT	0.622																																							uc002rqo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(832-834)AGG>ATG		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						38.0	34.0	36.0					2																	38301699		2201	4298	6499	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301699C>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.833G>T	2.37:g.38301699C>A	ENSP00000260630:p.Arg278Met						p.R278M	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			3	1236	-		all_hematologic(82;0.21)	278					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.833G>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565608	0.27915	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.68765	-0.35;-0.35	4.75	-2.96	0.05547	.	0.531882	0.21136	N	0.079572	T	0.62648	0.2445	L	0.56199	1.76	0.21355	N	0.999716	P	0.35844	0.524	P	0.46026	0.501	T	0.61168	-0.7117	10	0.87932	D	0	.	6.9255	0.24412	0.1393:0.2291:0.0:0.6315	.	278	Q53TK1	.	M	278	ENSP00000260630:R278M;ENSP00000384972:R278M	ENSP00000260630:R278M	R	-	2	0	CYP1B1	38155203	0.040000	0.19996	0.056000	0.19401	0.058000	0.15608	0.477000	0.22196	-0.518000	0.06452	-0.145000	0.13849	AGG		0.622	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		3	16	1	0	6.4e-05	0.004672	7.65288e-05	3	16				
PPP1R21	129285	broad.mit.edu	37	2	48687233	48687233	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:48687233G>T	ENST00000294952.8	+	6	697		c.e6-1		PPP1R21_ENST00000281394.4_Splice_Site|PPP1R21_ENST00000449090.2_Splice_Site	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CTGAAATTCAGGTGAAATCTC	0.433																																							uc002rwm.2		NA																	0				ovary(1)	1						c.e6-1		KLRAQ motif containing 1 isoform 1							85.0	79.0	81.0					2																	48687233		2203	4300	6503	SO:0001630	splice_region_variant	129285							g.chr2:48687233G>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.541-1G>T	2.37:g.48687233G>T						KLRAQ1_uc002rwi.1_Splice_Site_p.V181_splice|KLRAQ1_uc002rwj.2_Splice_Site_p.V181_splice|KLRAQ1_uc002rwl.2_Splice_Site_p.V135_splice|KLRAQ1_uc002rwk.2_Splice_Site_p.V181_splice|KLRAQ1_uc010yok.1_Splice_Site_p.V181_splice	p.V181_splice	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			6	726	+								B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Splice_Site	SNP	ENST00000294952.8	37	c.541_splice	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706028	0.89018	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8814	0.96900	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLRAQ1	48540737	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.041000	0.93788	2.778000	0.95560	0.591000	0.81541	.		0.433	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994	Intron	6	6	1	0	0.00116845	0.001168	0.00129404	6	6				
FSHR	2492	broad.mit.edu	37	2	49216144	49216144	+	Missense_Mutation	SNP	C	C	A	rs142383710		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:49216144C>A	ENST00000406846.2	-	6	615	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.V166L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	166					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.V166L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTCAGCCCCACGAAAGAATTT	0.338									Gonadal Dysgenesis, 46 XX				C|||	1	0.000199681	0.0	0.0014	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.0						uc002rww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(496-498)GTG>TTG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	C	LEU/VAL,	0,4406		0,0,2203	95.0	92.0	93.0		496,	-4.1	1.0	2	dbSNP_134	93	5,8595	3.7+/-12.6	0,5,4295	yes	missense,intron	FSHR	NM_000145.3,NM_181446.2	32,	0,5,6498	AA,AC,CC		0.0581,0.0,0.0384	benign,	166/696,	49216144	5,13001	2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49216144C>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.496G>T	2.37:g.49216144C>A	ENSP00000384708:p.Val166Leu					FSHR_uc002rwx.2_Missense_Mutation_p.V166L|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_RNA	p.V166L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	570	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	166			LRR 5.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.496G>T	CCDS1843.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.734	0.136450	0.09032	0.0	5.81E-4	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000454032	T;T;T	0.79141	-1.24;-1.24;-1.24	4.96	-4.14	0.03892	.	0.461952	0.24298	N	0.039752	T	0.36331	0.0963	N	0.00538	-1.39	0.54753	D	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19063	-1.0317	9	.	.	.	.	9.1393	0.36894	0.0:0.5347:0.124:0.3413	.	166;166	G5E967;P23945	.;FSHR_HUMAN	L	166	ENSP00000384708:V166L;ENSP00000333908:V166L;ENSP00000415504:V166L	.	V	-	1	0	FSHR	49069648	0.014000	0.17966	0.980000	0.43619	0.983000	0.72400	-0.370000	0.07523	-0.532000	0.06332	-0.218000	0.12543	GTG		0.338	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			12	14	1	0	6.40141e-05	0.010729	7.65288e-05	12	14				
NRXN1	9378	broad.mit.edu	37	2	50850623	50850623	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:50850623C>A	ENST00000406316.2	-	6	2439	c.963G>T	c.(961-963)atG>atT	p.M321I	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.M321I|NRXN1_ENST00000404971.1_Missense_Mutation_p.M354I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M321I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M321I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M321I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	321	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGTGTGAAGCATCAGTCCAT	0.433																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(1060-1062)ATG>ATT		neurexin 1 isoform alpha2 precursor							188.0	173.0	178.0					2																	50850623		1875	4106	5981	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850623C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.963G>T	2.37:g.50850623C>A	ENSP00000384311:p.Met321Ile					NRXN1_uc002rxb.3_Missense_Mutation_p.M1I|NRXN1_uc002rxe.3_Missense_Mutation_p.M321I|NRXN1_uc002rxc.1_RNA	p.M354I	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2539	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1062G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625864	0.28889	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.96;-0.97;-0.96;-0.97	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	N	0.10809	0.05	0.44024	D	0.996746	B;P;P	0.49358	0.024;0.923;0.637	B;D;P	0.69307	0.027;0.963;0.687	T	0.75684	-0.3232	10	0.33141	T	0.24	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	354;321;321	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	354;321;321;321;355;321;321	ENSP00000385142:M354I;ENSP00000384311:M321I;ENSP00000434015:M321I;ENSP00000385017:M321I;ENSP00000385434:M321I;ENSP00000385681:M321I	ENSP00000385017:M321I	M	-	3	0	NRXN1	50704127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.776000	0.95493	0.650000	0.86243	ATG		0.433	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			35	66	1	0	6.90743e-12	0.003755	1.10259e-11	35	66				
SPTBN1	6711	broad.mit.edu	37	2	54859864	54859864	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:54859864C>G	ENST00000356805.4	+	17	4007	c.3726C>G	c.(3724-3726)aaC>aaG	p.N1242K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N1229K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1242					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAACATCAACTCAGATCGCA	0.507																																							uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(3724-3726)AAC>AAG		spectrin, beta, non-erythrocytic 1 isoform 1							125.0	110.0	115.0					2																	54859864		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54859864C>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3726C>G	2.37:g.54859864C>G	ENSP00000349259:p.Asn1242Lys					SPTBN1_uc002rxx.2_Missense_Mutation_p.N1229K	p.N1242K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		17	3975	+			1242			Spectrin 9.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3726C>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332281	0.60853	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.34667	1.35;1.35	5.46	1.57	0.23409	.	0.044609	0.85682	D	0.000000	T	0.32406	0.0828	M	0.63428	1.95	0.42635	D	0.99339	B;P	0.35139	0.11;0.486	B;B	0.36030	0.089;0.216	T	0.06391	-1.0829	10	0.26408	T	0.33	.	9.5703	0.39425	0.0:0.6612:0.0:0.3388	.	1229;1242	Q01082-3;Q01082	.;SPTB2_HUMAN	K	1242;1229	ENSP00000349259:N1242K;ENSP00000334156:N1229K	ENSP00000334156:N1229K	N	+	3	2	SPTBN1	54713368	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	2.067000	0.41461	0.274000	0.22072	0.655000	0.94253	AAC		0.507	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			17	20	0	0	0	0.007413	0	17	20				
SPTBN1	6711	broad.mit.edu	37	2	54874368	54874368	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:54874368G>A	ENST00000356805.4	+	24	5248	c.4967G>A	c.(4966-4968)cGg>cAg	p.R1656Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R1643Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1656	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGACCAGCCGGGCCCTGGTG	0.562																																							uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(4966-4968)CGG>CAG		spectrin, beta, non-erythrocytic 1 isoform 1							82.0	83.0	83.0					2																	54874368		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54874368G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4967G>A	2.37:g.54874368G>A	ENSP00000349259:p.Arg1656Gln					SPTBN1_uc002rxx.2_Missense_Mutation_p.R1643Q	p.R1656Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		24	5216	+			1656			Interaction with ANK2.|Spectrin 13.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.4967G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953257	0.53293	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.45276	0.9;1.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	N	0.25992	0.78	0.52501	D	0.999957	B;B	0.26483	0.123;0.15	B;B	0.17722	0.018;0.019	T	0.15206	-1.0445	10	0.07813	T	0.8	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1643;1656	Q01082-3;Q01082	.;SPTB2_HUMAN	Q	1656;1643	ENSP00000349259:R1656Q;ENSP00000334156:R1643Q	ENSP00000334156:R1643Q	R	+	2	0	SPTBN1	54727872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.869000	0.87170	2.818000	0.97014	0.591000	0.81541	CGG		0.562	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			6	58	0	0	0	0.00308	0	6	58				
FANCL	55120	broad.mit.edu	37	2	58431271	58431271	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:58431271C>T	ENST00000233741.4	-	6	501	c.465G>A	c.(463-465)aaG>aaA	p.K155K	FANCL_ENST00000403295.3_Silent_p.K155K|FANCL_ENST00000403676.1_Silent_p.K38K|FANCL_ENST00000402135.3_Silent_p.K155K|FANCL_ENST00000540646.1_Intron	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	155	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						ATACCTTTGCCTTCAACTTGA	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc002rzw.3		NA																	0				ovary(2)	2						c.(463-465)AAG>AAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group L isoform							122.0	116.0	118.0					2																	58431271		2203	4300	6503	SO:0001819	synonymous_variant	55120	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58431271C>T	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.465G>A	2.37:g.58431271C>T						FANCL_uc002rzx.3_Silent_p.K155K|FANCL_uc010fce.2_Silent_p.K155K|FANCL_uc010fcf.1_Silent_p.K96K	p.K155K	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN			6	532	-			155					Q6GU60	Silent	SNP	ENST00000233741.4	37	c.465G>A	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	C	7.766	0.706452	0.15239	.	.	ENSG00000115392	ENST00000427708	.	.	.	5.2	1.31	0.21738	.	.	.	.	.	T	0.46092	0.1375	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	-18.3506	4.048	0.09781	0.189:0.4584:0.0:0.3526	.	.	.	.	S	155	.	.	G	-	1	0	FANCL	58284775	1.000000	0.71417	0.765000	0.31456	0.830000	0.47004	0.750000	0.26334	0.121000	0.18284	-0.136000	0.14681	GGC		0.393	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		15	75	0	0	0	0.004007	0	15	75				
LRRTM1	347730	broad.mit.edu	37	2	80530833	80530833	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:80530833C>A	ENST00000295057.3	-	2	768	c.112G>T	c.(112-114)Ggg>Tgg	p.G38W	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G38W|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	38	LRRNT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGCGGGCACCCGCTGGGGGCG	0.697										HNSCC(69;0.2)																													uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(112-114)GGG>TGG		leucine rich repeat transmembrane neuronal 1							13.0	17.0	15.0					2																	80530833		2020	4062	6082	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530833C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.112G>T	2.37:g.80530833C>A	ENSP00000295057:p.Gly38Trp	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.G38W	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	382	-			38			LRRNT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.112G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	9.429	1.084944	0.20390	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.42513	0.97;0.97;4.23;4.23;1.42	4.65	4.65	0.58169	Leucine-rich repeat-containing N-terminal (1);	0.072304	0.56097	U	0.000040	T	0.50069	0.1594	L	0.29908	0.895	0.46954	D	0.99926	D	0.71674	0.998	P	0.62649	0.905	T	0.45804	-0.9236	9	.	.	.	.	17.5101	0.87758	0.0:1.0:0.0:0.0	.	38	Q86UE6	LRRT1_HUMAN	W	38	ENSP00000295057:G38W;ENSP00000386646:G38W;ENSP00000415368:G38W;ENSP00000389473:G38W;ENSP00000404557:G38W	.	G	-	1	0	LRRTM1	80384344	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	4.486000	0.60286	2.121000	0.65114	0.436000	0.28706	GGG		0.697	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		16	15	1	0	5.3912e-06	0.006122	6.83959e-06	16	15				
FUNDC2P2	388965	broad.mit.edu	37	2	84517949	84517949	+	RNA	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:84517949G>A	ENST00000331369.5	+	0	143									FUN14 domain containing 2 pseudogene 2																		CGAAATGGCCGCGTCCAGTCA	0.587																																							uc010ffz.1		NA																	0					0						c.(7-9)GCG>ACG		RecName: Full=FUN14 domain-containing protein 2; AltName: Full=Hepatitis C virus core-binding protein 6; AltName: Full=Cervical cancer proto-oncogene 3 protein;          Short=HCC-3;																																						388965							g.chr2:84517949G>A			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84517949G>A							p.A3T	NR_003663						1	144	+									Missense_Mutation	SNP	ENST00000331369.5	37	c.7G>A																																																																																					0.587	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		4	11	0	0	0	0.009096	0	4	11				
VAMP5	10791	broad.mit.edu	37	2	85818874	85818874	+	Missense_Mutation	SNP	G	G	C	rs186049937		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:85818874G>C	ENST00000306384.4	+	2	113	c.30G>C	c.(28-30)caG>caC	p.Q10H		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	10	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						AGCGGTGCCAGCAGCAGGCGA	0.602																																							uc002spu.1		NA																	0					0						c.(28-30)CAG>CAC		vesicle-associated membrane protein 5							115.0	98.0	104.0					2																	85818874		2203	4300	6503	SO:0001583	missense	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818874G>C	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.30G>C	2.37:g.85818874G>C	ENSP00000305647:p.Gln10His						p.Q10H	NM_006634	NP_006625	O95183	VAMP5_HUMAN			2	113	+			10			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	c.30G>C	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591460	0.66219	.	.	ENSG00000168899	ENST00000306384	T	0.50001	0.76	4.84	1.98	0.26296	Synaptobrevin (3);	0.000000	0.64402	D	0.000007	T	0.65595	0.2706	M	0.85859	2.78	0.35798	D	0.822897	D	0.69078	0.997	D	0.85130	0.997	T	0.71477	-0.4581	10	0.56958	D	0.05	.	6.5684	0.22525	0.2958:0.0:0.7042:0.0	.	10	O95183	VAMP5_HUMAN	H	10	ENSP00000305647:Q10H	ENSP00000305647:Q10H	Q	+	3	2	VAMP5	85672385	0.995000	0.38212	0.997000	0.53966	0.980000	0.70556	2.114000	0.41911	1.035000	0.39972	0.561000	0.74099	CAG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		4	46	0	0	0	0.009096	0	4	46				
IGKV2-29	28920	broad.mit.edu	37	2	89533966	89533966	+	IGR	SNP	C	C	T	rs566511987		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:89533966C>T								IGKV2-28 (12024 upstream) : IGKV2-30 (10297 downstream)																							TCACAATATCCGCACTGGATC	0.458																																							uc010ytr.1		NA																	0					NA						c.e16-1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	0							g.chr2:89533966C>T																													2.37:g.89533966C>T						uc002stl.2_Intron								16		-									Splice_Site	SNP		37	c.1929_splice																																																																																				0	0.458									3	20	0	0	0	0.009096	0	3	20				
NPAS2	4862	broad.mit.edu	37	2	101609882	101609882	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:101609882G>T	ENST00000335681.5	+	20	2470	c.2185G>T	c.(2185-2187)Gtc>Ttc	p.V729F	NPAS2_ENST00000542504.1_Missense_Mutation_p.V794F|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	729					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.V729I(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGATGCCCGTCCTGCTGAT	0.652																																							uc002tap.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2185-2187)GTC>TTC		neuronal PAS domain protein 2							39.0	33.0	35.0					2																	101609882		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101609882G>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2185G>T	2.37:g.101609882G>T	ENSP00000338283:p.Val729Phe					NPAS2_uc010yvt.1_Missense_Mutation_p.V794F|NPAS2_uc010fit.1_Missense_Mutation_p.R146L	p.V729F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			20	2471	+			729					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.2185G>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.534108|2.534108	0.45073|0.45073	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000450763;ENST00000433408|ENST00000335681;ENST00000542504	T|T;T	0.32023|0.06528	1.47|3.33;3.29	5.79|5.79	1.5|1.5	0.22942|0.22942	.|.	.|3.249450	.|0.01151	.|N	.|0.006429	T|T	0.18045|0.18045	0.0433|0.0433	L|L	0.56769|0.56769	1.78|1.78	0.27972|0.27972	N|N	0.936378|0.936378	.|D;D	.|0.58970	.|0.984;0.984	.|P;P	.|0.56563	.|0.801;0.691	T|T	0.10064|0.10064	-1.0646|-1.0646	6|10	.|0.59425	.|D	.|0.04	.|.	8.1477|8.1477	0.31121|0.31121	0.4425:0.0:0.5575:0.0|0.4425:0.0:0.5575:0.0	.|.	.|794;729	.|F5H027;Q99743	.|.;NPAS2_HUMAN	L|F	167;227|729;794	ENSP00000392125:R167L|ENSP00000338283:V729F;ENSP00000438428:V794F	.|ENSP00000338283:V729F	R|V	+|+	2|1	0|0	NPAS2|NPAS2	100976314|100976314	0.216000|0.216000	0.23585|0.23585	0.531000|0.531000	0.27976|0.27976	0.451000|0.451000	0.32288|0.32288	0.239000|0.239000	0.18023|0.18023	0.378000|0.378000	0.24764|0.24764	-0.253000|-0.253000	0.11424|0.11424	CGT|GTC		0.652	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			20	22	1	0	1.01871e-10	0.008871	1.57581e-10	20	22				
IL1RL1	9173	broad.mit.edu	37	2	102956659	102956659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:102956659C>A	ENST00000233954.1	+	4	645	c.374C>A	c.(373-375)tCa>tAa	p.S125*	IL1RL1_ENST00000311734.2_Nonsense_Mutation_p.S125*|IL1RL1_ENST00000393393.3_Nonsense_Mutation_p.S125*|IL1RL1_ENST00000404917.2_Nonsense_Mutation_p.S8*|IL1RL1_ENST00000409584.1_Nonsense_Mutation_p.S125*	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	125	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATCTGGATCAGAAAAAAAT	0.348																																							uc002tbu.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(373-375)TCA>TAA		interleukin 1 receptor-like 1 isoform 1							73.0	72.0	72.0					2																	102956659		2203	4300	6503	SO:0001587	stop_gained	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102956659C>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.374C>A	2.37:g.102956659C>A	ENSP00000233954:p.Ser125*					IL1RL1_uc010ywa.1_Nonsense_Mutation_p.S8*|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Nonsense_Mutation_p.S125*	p.S125*	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			4	645	+			125			Ig-like C2-type 2.|Extracellular (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Nonsense_Mutation	SNP	ENST00000233954.1	37	c.374C>A	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908727	0.92107	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	.	.	.	5.54	3.61	0.41365	.	1.018620	0.07816	N	0.958974	.	.	.	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	8.1854	0.31335	0.0:0.7559:0.1544:0.0897	.	.	.	.	X	125;125;8;125;125	.	ENSP00000233954:S125X	S	+	2	0	IL1RL1	102323091	0.014000	0.17966	0.542000	0.28115	0.664000	0.39144	0.691000	0.25467	1.268000	0.44264	0.563000	0.77884	TCA		0.348	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		3	18	1	0	0.004672	0.004672	0.00503002	3	18				
IL1RL1	9173	broad.mit.edu	37	2	102965695	102965695	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:102965695T>A	ENST00000233954.1	+	10	1545	c.1274T>A	c.(1273-1275)cTa>cAa	p.L425Q		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	425	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGAGATATGCTACCTGGAGAA	0.413																																							uc002tbu.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1273-1275)CTA>CAA		interleukin 1 receptor-like 1 isoform 1							160.0	143.0	149.0					2																	102965695		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102965695T>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1274T>A	2.37:g.102965695T>A	ENSP00000233954:p.Leu425Gln					IL18R1_uc002tbw.3_Intron	p.L425Q	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			10	1545	+			425			TIR.|Cytoplasmic (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.1274T>A	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625655	0.46840	.	.	ENSG00000115602	ENST00000233954	T	0.10192	2.9	5.36	2.93	0.34026	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.688566	0.13139	N	0.410778	T	0.22003	0.0530	M	0.64567	1.98	0.09310	N	1	D	0.58620	0.983	P	0.62014	0.897	T	0.14504	-1.0470	10	0.72032	D	0.01	.	3.1836	0.06593	0.1457:0.0768:0.1341:0.6434	.	425	Q01638	ILRL1_HUMAN	Q	425	ENSP00000233954:L425Q	ENSP00000233954:L425Q	L	+	2	0	IL1RL1	102332127	0.103000	0.21917	0.096000	0.21009	0.961000	0.63080	2.963000	0.49184	0.408000	0.25621	0.482000	0.46254	CTA		0.413	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		15	16	0	0	0	0.003163	0	15	16				
ST6GAL2	84620	broad.mit.edu	37	2	107423348	107423348	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:107423348G>T	ENST00000409382.3	-	6	1986	c.1376C>A	c.(1375-1377)tCc>tAc	p.S459Y	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S459Y	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	459					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGCCGCACGGATGGGATATA	0.507																																							uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(1375-1377)TCC>TAC		ST6 beta-galactosamide							63.0	58.0	59.0					2																	107423348		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107423348G>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1376C>A	2.37:g.107423348G>T	ENSP00000386942:p.Ser459Tyr					ST6GAL2_uc002tdr.2_Missense_Mutation_p.S459Y	p.S459Y	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			6	1495	-			459			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1376C>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773493	0.69992	.	.	ENSG00000144057	ENST00000361686;ENST00000409382	T;T	0.33438	1.41;1.41	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77341	-0.2624	10	0.72032	D	0.01	-35.6021	19.0512	0.93046	0.0:0.0:1.0:0.0	.	459	Q96JF0	SIAT2_HUMAN	Y	459	ENSP00000355273:S459Y;ENSP00000386942:S459Y	ENSP00000355273:S459Y	S	-	2	0	ST6GAL2	106789780	1.000000	0.71417	0.143000	0.22291	0.234000	0.25298	9.764000	0.98949	2.735000	0.93741	0.655000	0.94253	TCC		0.507	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		14	17	1	0	9.31168e-06	0.001855	1.16912e-05	14	17				
DDX18	8886	broad.mit.edu	37	2	118579481	118579481	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:118579481G>T	ENST00000263239.2	+	6	923	c.795G>T	c.(793-795)atG>atT	p.M265I	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	265	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTAGCCATGCAAACCTTTG	0.438																																							uc002tlh.1		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(793-795)ATG>ATT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							128.0	124.0	125.0					2																	118579481		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118579481G>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.795G>T	2.37:g.118579481G>T	ENSP00000263239:p.Met265Ile						p.M265I	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			6	894	+			265			Helicase ATP-binding.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.795G>T	CCDS2120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.225885|3.225885	0.58668|0.58668	.|.	.|.	ENSG00000088205|ENSG00000088205	ENST00000539346|ENST00000263239	.|T	.|0.14640	.|2.49	5.4|5.4	5.4|5.4	0.78164|0.78164	.|DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.08582|0.08582	0.0213|0.0213	N|N	0.04994|0.04994	-0.135|-0.135	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.11329	.|0.006	T|T	0.32693|0.32693	-0.9897|-0.9897	6|10	0.46703|0.30078	T|T	0.11|0.28	-22.9556|-22.9556	17.7964|17.7964	0.88572|0.88572	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|265	.|Q9NVP1	.|DDX18_HUMAN	D|I	4|265	.|ENSP00000263239:M265I	ENSP00000442144:E4D|ENSP00000263239:M265I	E|M	+|+	3|3	2|0	DDX18|DDX18	118295951|118295951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.178000|9.178000	0.94855|0.94855	2.716000|2.716000	0.92895|0.92895	0.644000|0.644000	0.83932|0.83932	GAG|ATG		0.438	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		11	53	1	0	6.40141e-05	0.010729	7.65288e-05	11	53				
CLASP1	23332	broad.mit.edu	37	2	122122783	122122783	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:122122783T>C	ENST00000263710.4	-	36	4353	c.3964A>G	c.(3964-3966)Aag>Gag	p.K1322E	CLASP1_ENST00000545861.1_Missense_Mutation_p.K1029E|CLASP1_ENST00000397587.3_Missense_Mutation_p.K1262E|CLASP1_ENST00000541859.1_Missense_Mutation_p.K1039E|CLASP1_ENST00000455322.2_Missense_Mutation_p.K1278E|CLASP1_ENST00000409078.3_Missense_Mutation_p.K1255E|CLASP1_ENST00000541377.1_Missense_Mutation_p.K1261E	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1322	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AGGGCTCCCTTCCGTTCCTCC	0.567																																							uc002tnc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3964-3966)AAG>GAG		CLIP-associating protein 1 isoform 1							68.0	72.0	71.0					2																	122122783		2071	4215	6286	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122122783T>C	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3964A>G	2.37:g.122122783T>C	ENSP00000263710:p.Lys1322Glu					CLASP1_uc010yyv.1_Missense_Mutation_p.K368E|CLASP1_uc002tmz.2_Missense_Mutation_p.K407E|CLASP1_uc002tna.2_Missense_Mutation_p.K368E|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.K1263E|CLASP1_uc010yza.1_Missense_Mutation_p.K1255E|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.K158E|CLASP1_uc002tnf.2_Missense_Mutation_p.K224E	p.K1322E	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			35	4354	-	Renal(3;0.0496)		1322			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Potential.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3964A>G		.	.	.	.	.	.	.	.	.	.	t	19.57	3.852496	0.71719	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.041856	0.85682	D	0.000000	T	0.66197	0.2765	M	0.72894	2.215	0.52501	D	0.999955	P;P;P;P	0.47762	0.9;0.897;0.835;0.859	B;B;B;B	0.43950	0.334;0.435;0.251;0.437	T	0.71031	-0.4710	10	0.54805	T	0.06	-7.5238	16.0196	0.80472	0.0:0.0:0.0:1.0	.	1255;1262;1263;1322	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	E	1322;1278;1262;1261;1039;1255;1029	ENSP00000263710:K1322E;ENSP00000389372:K1278E;ENSP00000380717:K1262E;ENSP00000441625:K1261E;ENSP00000441770:K1039E;ENSP00000386442:K1255E;ENSP00000438620:K1029E	ENSP00000263710:K1322E	K	-	1	0	CLASP1	121839253	0.999000	0.42202	0.975000	0.42487	0.635000	0.38103	3.614000	0.54160	2.249000	0.74217	0.454000	0.30748	AAG		0.567	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		4	13	0	0	0	0.009096	0	4	13				
CNTNAP5	129684	broad.mit.edu	37	2	125521572	125521572	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:125521572T>A	ENST00000431078.1	+	16	2742	c.2378T>A	c.(2377-2379)gTc>gAc	p.V793D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	793	Laminin G-like 3. {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)		TGGAACGCCGTCTCATTTTAT	0.423																																							uc002tno.2		NA																	0				ovary(10)	10						c.(2377-2379)GTC>GAC		contactin associated protein-like 5 precursor							128.0	121.0	124.0					2																	125521572		1867	4092	5959	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521572T>A	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.2378T>A	2.37:g.125521572T>A	ENSP00000399013:p.Val793Asp					CNTNAP5_uc010flu.2_Missense_Mutation_p.V794D	p.V793D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2742	+			793			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2378T>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677210	0.68042	.	.	ENSG00000155052	ENST00000431078	T	0.51574	0.7	5.9	3.55	0.40652	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.142139	0.31601	N	0.007361	T	0.48241	0.1489	M	0.87381	2.88	0.58432	D	0.99999	P	0.45902	0.868	B	0.39068	0.289	T	0.55360	-0.8153	10	0.87932	D	0	.	6.0674	0.19871	0.0:0.2768:0.0:0.7232	.	793	Q8WYK1	CNTP5_HUMAN	D	793	ENSP00000399013:V793D	ENSP00000399013:V793D	V	+	2	0	CNTNAP5	125238042	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	4.052000	0.57420	1.059000	0.40554	0.533000	0.62120	GTC		0.423	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			34	55	0	0	0	0.004289	0	34	55				
GYPC	2995	broad.mit.edu	37	2	127453522	127453522	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:127453522G>T	ENST00000259254.4	+	4	522	c.191G>T	c.(190-192)gGt>gTt	p.G64V	GYPC_ENST00000356887.7_Splice_Site_p.G43V|GYPC_ENST00000409836.3_Splice_Site_p.G45V|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	64						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCACCTGCAGGTGTGATTGCT	0.587																																					Melanoma(110;806 1600 6704 9981 33404)	Melanoma(110;806 1600 6704 9981 33404)	uc002tnq.2		NA																	0				central_nervous_system(1)	1						c.(190-192)GGT>GTT		glycophorin C isoform 1							158.0	125.0	136.0					2																	127453522		2203	4300	6503	SO:0001630	splice_region_variant	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127453522G>T		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.191-1G>T	2.37:g.127453522G>T						GYPC_uc002tnr.2_Missense_Mutation_p.G45V|GYPC_uc010flv.2_RNA	p.G64V	NM_002101	NP_002092	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	4	347	+	Colorectal(110;0.0533)		64			Helical; Signal-anchor for type III membrane protein.		B2R522|Q53SV9|Q92642	Missense_Mutation	SNP	ENST00000259254.4	37	c.191G>T	CCDS2136.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517930	0.27211	.	.	ENSG00000136732	ENST00000259254;ENST00000356887;ENST00000409836	T;T;T	0.34859	1.68;1.34;1.89	5.22	2.33	0.28932	.	.	.	.	.	T	0.24774	0.0601	L	0.34521	1.04	0.80722	D	1	B;B	0.25563	0.129;0.129	B;B	0.26202	0.067;0.067	T	0.04140	-1.0974	8	.	.	.	.	8.9345	0.35691	0.0:0.1727:0.5753:0.252	.	43;64	P04921-2;P04921	.;GLPC_HUMAN	V	64;43;45	ENSP00000259254:G64V;ENSP00000349354:G43V;ENSP00000386904:G45V	.	G	+	2	0	GYPC	127169992	1.000000	0.71417	0.453000	0.27007	0.102000	0.19082	3.260000	0.51523	0.605000	0.29947	-0.219000	0.12488	GGT		0.587	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101	Missense_Mutation	9	94	1	0	3.86212e-05	0.008291	4.67636e-05	9	94				
CYP27C1	339761	broad.mit.edu	37	2	127957001	127957001	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:127957001T>C	ENST00000335247.7	-	4	633	c.503A>G	c.(502-504)cAg>cGg	p.Q168R	CYP27C1_ENST00000409327.1_Missense_Mutation_p.Q168R	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	168						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTAGATCTCCTGCAGCGTCAG	0.577																																							uc002tod.2		NA																	0					0						c.(502-504)CAG>CGG		cytochrome P450, family 27, subfamily C,							180.0	155.0	163.0					2																	127957001		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127957001T>C	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.503A>G	2.37:g.127957001T>C	ENSP00000334128:p.Gln168Arg						p.Q168R	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	4	634	-	Colorectal(110;0.1)		168					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.503A>G	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	T	7.962	0.747178	0.15710	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.68331	-0.32;-0.32	4.14	4.14	0.48551	.	0.118102	0.56097	D	0.000032	T	0.48370	0.1496	N	0.14661	0.345	0.25740	N	0.985172	B	0.06786	0.001	B	0.16722	0.016	T	0.31586	-0.9938	10	0.24483	T	0.36	-23.9482	13.1649	0.59565	0.0:0.0:0.0:1.0	.	168	Q4G0S4	C27C1_HUMAN	R	168	ENSP00000334128:Q168R;ENSP00000387198:Q168R	ENSP00000334128:Q168R	Q	-	2	0	CYP27C1	127673471	1.000000	0.71417	0.881000	0.34555	0.058000	0.15608	6.526000	0.73799	1.515000	0.48885	0.379000	0.24179	CAG		0.577	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		31	54	0	0	0	0.009535	0	31	54				
MYO7B	4648	broad.mit.edu	37	2	128331623	128331623	+	Missense_Mutation	SNP	C	C	T	rs373706003		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:128331623C>T	ENST00000409816.2	+	6	753	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R241W|MYO7B_ENST00000389524.4_Missense_Mutation_p.R241W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	241	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAAGTCCCGGGTCTGCCG	0.607																																							uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(721-723)CGG>TGG		myosin VIIB		C	TRP/ARG	1,3739		0,1,1869	72.0	82.0	79.0		721	4.0	1.0	2		79	0,8210		0,0,4105	no	missense	MYO7B	NM_001080527.1	101	0,1,5974	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging	241/2117	128331623	1,11949	1870	4105	5975	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128331623C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.721C>T	2.37:g.128331623C>T	ENSP00000386461:p.Arg241Trp						p.R241W	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	7	774	+	Colorectal(110;0.1)		241			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.721C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651445	0.67472	2.67E-4	0.0	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.96940	-4.18;-4.18;-4.18	4.87	3.96	0.45880	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.99093	0.9688	H	0.99815	4.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98423	1.0578	10	0.87932	D	0	.	14.2936	0.66298	0.1546:0.8454:0.0:0.0	.	241	Q6PIF6	MYO7B_HUMAN	W	241	ENSP00000374175:R241W;ENSP00000415090:R241W;ENSP00000386461:R241W	ENSP00000374175:R241W	R	+	1	2	MYO7B	128048093	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	2.518000	0.45537	1.109000	0.41680	0.462000	0.41574	CGG		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		25	98	0	0	0	0.005443	0	25	98				
MYO7B	4648	broad.mit.edu	37	2	128335809	128335809	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:128335809C>A	ENST00000409816.2	+	8	983	c.951C>A	c.(949-951)gaC>gaA	p.D317E	MYO7B_ENST00000428314.1_Missense_Mutation_p.D317E|MYO7B_ENST00000389524.4_Missense_Mutation_p.D317E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	317	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D317D(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGAGCTGGGACGTCATCAAGC	0.607																																							uc002top.2		NA																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(1)|pancreas(1)	2						c.(949-951)GAC>GAA		myosin VIIB							53.0	58.0	57.0					2																	128335809		2106	4214	6320	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335809C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.951C>A	2.37:g.128335809C>A	ENSP00000386461:p.Asp317Glu						p.D317E	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	1004	+	Colorectal(110;0.1)		317			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.951C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015700	0.02078	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86297	-2.1;-2.1;-2.1	4.25	2.4	0.29515	Myosin head, motor domain (2);	0.058693	0.64402	D	0.000002	T	0.63733	0.2536	N	0.04132	-0.27	0.34158	D	0.66838	P	0.42409	0.779	B	0.39465	0.3	T	0.70521	-0.4849	10	0.02654	T	1	.	4.5039	0.11878	0.1551:0.5918:0.0:0.2531	.	317	Q6PIF6	MYO7B_HUMAN	E	317	ENSP00000374175:D317E;ENSP00000415090:D317E;ENSP00000386461:D317E	ENSP00000374175:D317E	D	+	3	2	MYO7B	128052279	0.727000	0.28069	0.992000	0.48379	0.413000	0.31143	-0.022000	0.12480	0.530000	0.28619	0.563000	0.77884	GAC		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	33	1	0	3.59834e-05	0.001168	4.39136e-05	6	33				
GPR17	2840	broad.mit.edu	37	2	128408417	128408417	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:128408417C>A	ENST00000272644.3	+	3	266	c.192C>A	c.(190-192)tcC>tcA	p.S64S	GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Silent_p.S64S|GPR17_ENST00000544369.1_Silent_p.S64S	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	64					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		tgttcgcctccttctaccttc	0.572											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010yzn.1		NA																	0					0						c.(190-192)TCC>TCA		G protein-coupled receptor 17 isoform a							133.0	125.0	128.0					2																	128408417		2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408417C>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.192C>A	2.37:g.128408417C>A			OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1564	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.S64S|GPR17_uc010yzo.1_Silent_p.S36S|GPR17_uc002tpd.2_Silent_p.S36S	p.S64S	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	803	+	Colorectal(110;0.1)	Ovarian(717;0.15)	64			Extracellular (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.192C>A	CCDS2148.1																																																																																				0.572	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			19	58	1	0	6.44725e-10	0.002299	9.7166e-10	19	58				
MAP3K19	80122	broad.mit.edu	37	2	135744697	135744697	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:135744697G>T	ENST00000375845.3	-	7	1775	c.1745C>A	c.(1744-1746)cCc>cAc	p.P582H	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P599H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P469H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	582							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CCAAGGCCTGGGGTCCACAAG	0.428																																							uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1744-1746)CCC>CAC		Yeast Sps1/Ste20-related kinase 4 isoform 1							80.0	85.0	84.0					2																	135744697		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744697G>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1745C>A	2.37:g.135744697G>T	ENSP00000365005:p.Pro582His					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P469H|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P310H|YSK4_uc002tui.3_Missense_Mutation_p.P599H	p.P582H	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1776	-			582					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1745C>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.197012	0.01594	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.70164	-0.46;-0.46;1.9	5.53	3.68	0.42216	.	0.825756	0.10448	N	0.673386	T	0.43389	0.1245	N	0.04959	-0.14	0.18873	N	0.999985	B;B;B	0.17667	0.007;0.023;0.007	B;B;B	0.14023	0.01;0.01;0.005	T	0.28554	-1.0040	10	0.25751	T	0.34	.	7.9512	0.30017	0.076:0.0:0.5049:0.4191	.	469;599;582	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	582;469;599	ENSP00000365005:P582H;ENSP00000351140:P469H;ENSP00000376647:P599H	ENSP00000351140:P469H	P	-	2	0	YSK4	135461167	0.006000	0.16342	0.001000	0.08648	0.004000	0.04260	1.286000	0.33273	0.649000	0.30751	-0.152000	0.13540	CCC		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		12	57	1	0	1.08611e-07	0.010729	1.49384e-07	12	57				
MCM6	4175	broad.mit.edu	37	2	136624258	136624258	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:136624258C>A	ENST00000264156.2	-	5	716	c.656G>T	c.(655-657)aGt>aTt	p.S219I	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	219					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GCGGGGGATACTCCCTCGAGG	0.448																																					Ovarian(196;141 2104 8848 24991 25939)	Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	0					0						c.(655-657)AGT>ATT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						88.0	86.0	87.0					2																	136624258		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136624258C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.656G>T	2.37:g.136624258C>A	ENSP00000264156:p.Ser219Ile						p.S219I	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	5	732	-			219					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.656G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869816	0.91587	.	.	ENSG00000076003	ENST00000264156	T	0.05025	3.51	5.89	5.89	0.94794	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.081191	0.85682	D	0.000000	T	0.25680	0.0625	M	0.84948	2.725	0.80722	D	1	P	0.49358	0.923	P	0.53549	0.729	T	0.00613	-1.1644	10	0.87932	D	0	-18.8198	20.2562	0.98421	0.0:1.0:0.0:0.0	.	219	Q14566	MCM6_HUMAN	I	219	ENSP00000264156:S219I	ENSP00000264156:S219I	S	-	2	0	MCM6	136340728	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.950000	0.70265	2.797000	0.96272	0.563000	0.77884	AGT		0.448	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		4	54	1	0	0.00024832	0.009096	0.000286393	4	54				
LRP1B	53353	broad.mit.edu	37	2	141108558	141108558	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:141108558A>T	ENST00000389484.3	-	77	12671	c.11700T>A	c.(11698-11700)ggT>ggA	p.G3900G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3900					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)		GATATATAAAACCCAGGATAT	0.294										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	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.(11698-11700)GGT>GGA		low density lipoprotein-related protein 1B							98.0	107.0	104.0					2																	141108558		2203	4297	6500	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108558A>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.11700T>A	2.37:g.141108558A>T		TSP Lung(27;0.18)					p.G3900G	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)	77	12672	-		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)	3900			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.11700T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256944	0.22965	.	.	ENSG00000168702	ENST00000437977	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.72930	0.3522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72265	-0.4344	4	.	.	.	.	15.9807	0.80108	1.0:0.0:0.0:0.0	.	.	.	.	D	132	.	.	V	-	2	0	LRP1B	140825028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.652000	0.61454	2.178000	0.69098	0.533000	0.62120	GTT		0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	52	0	0	0	0.00308	0	7	52				
LRP1B	53353	broad.mit.edu	37	2	141459833	141459833	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:141459833C>A	ENST00000389484.3	-	39	7150	c.6179G>T	c.(6178-6180)cGc>cTc	p.R2060L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2060					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)		CTTGTCTGTGCGAGCATCACA	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	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.(6178-6180)CGC>CTC		low density lipoprotein-related protein 1B							183.0	165.0	171.0					2																	141459833		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459833C>A	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.6179G>T	2.37:g.141459833C>A	ENSP00000374135:p.Arg2060Leu	TSP Lung(27;0.18)					p.R2060L	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)	39	7151	-		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)	2060			Extracellular (Potential).|LDL-receptor class B 22.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6179G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989306	0.74589	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93076	-3.16	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.089057	0.50627	U	0.000114	D	0.95262	0.8463	L	0.52905	1.665	0.54753	D	0.999986	D	0.65815	0.995	P	0.61592	0.891	D	0.93881	0.7171	10	0.33940	T	0.23	.	19.627	0.95680	0.0:1.0:0.0:0.0	.	2060	Q9NZR2	LRP1B_HUMAN	L	2060;1998	ENSP00000374135:R2060L	ENSP00000374135:R2060L	R	-	2	0	LRP1B	141176303	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.710000	0.84655	2.641000	0.89580	0.557000	0.71058	CGC		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	56	1	0	3.86212e-05	0.008291	4.67636e-05	10	56				
LRP1B	53353	broad.mit.edu	37	2	141707882	141707882	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:141707882G>A	ENST00000389484.3	-	20	4029	c.3058C>T	c.(3058-3060)Cca>Tca	p.P1020S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1020	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		CAGTGGCCTGGGATGCATCTG	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	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.(3058-3060)CCA>TCA		low density lipoprotein-related protein 1B							94.0	67.0	76.0					2																	141707882		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141707882G>A	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.3058C>T	2.37:g.141707882G>A	ENSP00000374135:p.Pro1020Ser	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.P202S	p.P1020S	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)	20	4030	-		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)	1020			Extracellular (Potential).|LDL-receptor class A 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3058C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435360	0.62955	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95554	-3.74;-3.74	5.8	5.8	0.92144	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.96978	0.9013	L	0.53249	1.67	0.80722	D	1	P;D	0.76494	0.654;0.999	P;D	0.85130	0.474;0.997	D	0.95392	0.8482	10	0.27082	T	0.32	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	203;1020	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1020;958;165	ENSP00000374135:P1020S;ENSP00000413239:P165S	ENSP00000374135:P1020S	P	-	1	0	LRP1B	141424352	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.711000	0.98735	2.758000	0.94735	0.563000	0.77884	CCA		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	14	0	0	0	0.001168	0	6	14				
GTDC1	79712	broad.mit.edu	37	2	144966327	144966327	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:144966327C>A	ENST00000392869.2	-	3	174	c.22G>T	c.(22-24)Gca>Tca	p.A8S	GTDC1_ENST00000344850.4_Missense_Mutation_p.A8S|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000409214.1_Missense_Mutation_p.A8S|GTDC1_ENST00000542155.1_Missense_Mutation_p.A8S|GTDC1_ENST00000409298.1_Missense_Mutation_p.A8S|GTDC1_ENST00000241391.5_Missense_Mutation_p.A8S|GTDC1_ENST00000392867.3_Missense_Mutation_p.A8S|GTDC1_ENST00000467352.1_5'Flank	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	8					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCATAGAATGCTTCAATGATG	0.368																																							uc002tvp.2		NA																	0				ovary(1)	1						c.(22-24)GCA>TCA		glycosyltransferase-like domain containing 1							61.0	61.0	61.0					2																	144966327		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144966327C>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.22G>T	2.37:g.144966327C>A	ENSP00000376608:p.Ala8Ser					GTDC1_uc002tvo.2_Missense_Mutation_p.A8S|GTDC1_uc002tvq.2_Missense_Mutation_p.A8S|GTDC1_uc002tvr.2_Missense_Mutation_p.A8S|GTDC1_uc010fnn.2_Missense_Mutation_p.A8S|GTDC1_uc002tvs.2_5'UTR|GTDC1_uc010fno.2_Intron|GTDC1_uc002tvt.1_Missense_Mutation_p.A8S	p.A8S	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	4	301	-			8					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.22G>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709604	0.68730	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	6.08	6.08	0.98989	Glycosyltransferase family 1, N-terminal (1);	0.054603	0.64402	D	0.000001	T	0.60287	0.2257	L	0.46741	1.465	0.54753	D	0.999986	P;P;D;P	0.56746	0.849;0.776;0.977;0.754	P;B;P;B	0.59703	0.61;0.314;0.862;0.417	T	0.57883	-0.7734	10	0.56958	D	0.05	-9.2762	17.5396	0.87843	0.0:0.8767:0.1233:0.0	.	8;8;8;8	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	S	8	ENSP00000376608:A8S;ENSP00000386581:A8S;ENSP00000376606:A8S;ENSP00000386691:A8S;ENSP00000438323:A8S;ENSP00000241391:A8S;ENSP00000339750:A8S;ENSP00000403869:A8S;ENSP00000400661:A8S	ENSP00000241391:A8S	A	-	1	0	GTDC1	144682797	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.825000	0.48096	2.894000	0.99253	0.655000	0.94253	GCA		0.368	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		9	27	1	0	1.76689e-08	0.006214	2.52626e-08	9	27				
PABPC1P2	728773	broad.mit.edu	37	2	147346256	147346256	+	IGR	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:147346256G>T								RNU7-2P (443471 upstream) : AC103881.1 (249060 downstream)																							ACCCAGAACCGTGCTGCATAC	0.512																																							uc002twf.3		NA																	0					0						c.(715-717)CGT>CTT		RecName: Full=Putative protein PABPC1-like; AltName: Full=Polyadenylate-binding protein pseudogene 2;																																				SO:0001628	intergenic_variant	728773							g.chr2:147346256G>T																													2.37:g.147346256G>T							p.R239L	NR_026904						1	1632	+									Missense_Mutation	SNP		37	c.716G>T																																																																																				0	0.512									4	50	1	0	0.00024832	0.009096	0.000286393	4	50				
EPC2	26122	broad.mit.edu	37	2	149522656	149522656	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:149522656A>C	ENST00000258484.6	+	7	1115	c.1081A>C	c.(1081-1083)Aat>Cat	p.N361H		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	361					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCCTGTGATCAATAAGAGTGA	0.363																																							uc010zbt.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1081-1083)AAT>CAT		enhancer of polycomb homolog 2							72.0	70.0	71.0					2																	149522656		1874	4100	5974	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149522656A>C	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1081A>C	2.37:g.149522656A>C	ENSP00000258484:p.Asn361His						p.N361H	NM_015630	NP_056445	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	7	1108	+			361					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1081A>C	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654654	0.67472	.	.	ENSG00000135999	ENST00000258484	T	0.20332	2.08	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.54323	1.7	0.80722	D	1	B	0.26258	0.145	B	0.34180	0.177	T	0.03576	-1.1023	10	0.72032	D	0.01	-1.8863	16.8222	0.85835	1.0:0.0:0.0:0.0	.	361	Q52LR7	EPC2_HUMAN	H	361	ENSP00000258484:N361H	ENSP00000258484:N361H	N	+	1	0	EPC2	149239126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.850000	0.92190	2.371000	0.80710	0.533000	0.62120	AAT		0.363	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		5	38	0	0	0	0.001168	0	5	38				
KIF5C	3800	broad.mit.edu	37	2	149847596	149847596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:149847596G>T	ENST00000435030.1	+	16	2157	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	KIF5C_ENST00000397413.1_Nonsense_Mutation_p.E365*|KIF5C_ENST00000414838.2_Nonsense_Mutation_p.E502*|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	597					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GATGAAGTCAGAGGTCAAGTC	0.547																																							uc010zbu.1		NA																	0				skin(1)	1						c.(1789-1791)GAG>TAG		kinesin family member 5C							50.0	57.0	55.0					2																	149847596		2037	4196	6233	SO:0001587	stop_gained	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149847596G>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1789G>T	2.37:g.149847596G>T	ENSP00000393379:p.Glu597*					KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Nonsense_Mutation_p.E149*	p.E597*	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	16	2157	+			597					O95079|Q2YDC5	Nonsense_Mutation	SNP	ENST00000435030.1	37	c.1789G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.372338	0.97515	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	.	.	.	4.9	4.9	0.64082	.	0.143666	0.46758	D	0.000274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.2728	0.90073	0.0:0.0:1.0:0.0	.	.	.	.	X	597;502;500;365	.	ENSP00000334176:E500X	E	+	1	0	KIF5C	149555842	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.657000	0.98554	2.529000	0.85273	0.655000	0.94253	GAG		0.547	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		12	16	1	0	2.27111e-07	0.001368	3.08624e-07	12	16				
NEB	4703	broad.mit.edu	37	2	152348631	152348631	+	Missense_Mutation	SNP	T	T	A	rs184319249		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:152348631T>A	ENST00000172853.10	-	145	19617	c.19470A>T	c.(19468-19470)caA>caT	p.Q6490H	NEB_ENST00000397345.3_Missense_Mutation_p.Q8346H|NEB_ENST00000509223.2_Missense_Mutation_p.Q259H|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Missense_Mutation_p.Q8346H|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.Q8346H|NEB_ENST00000409198.1_Missense_Mutation_p.Q6490H|NEB_ENST00000397336.2_Missense_Mutation_p.Q321H|NEB_ENST00000427231.2_Missense_Mutation_p.Q8346H			P20929	NEBU_HUMAN	nebulin	6490	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCCTGATCTTGGTCATTCC	0.428																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(19468-19470)CAA>CAT		nebulin isoform 3							235.0	229.0	231.0					2																	152348631		1945	4126	6071	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152348631T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19470A>T	2.37:g.152348631T>A	ENSP00000172853:p.Gln6490His					NEB_uc002txr.2_Missense_Mutation_p.Q2820H|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.Q259H|NEB_uc002txq.2_Missense_Mutation_p.Q369H|NEB_uc010zca.1_Missense_Mutation_p.Q321H|NEB_uc010zcb.1_Missense_Mutation_p.Q259H	p.Q6490H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	145	19661	-			6490			Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.19470A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.701224|1.701224	0.30142|0.30142	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.06849	.|3.38;3.43;3.43;3.25;3.38;4.02;4.18	4.97|4.97	1.17|1.17	0.20885|0.20885	.|.	.|0.109035	.|0.64402	.|D	.|0.000005	T|T	0.07052|0.07052	0.0179|0.0179	N|N	0.04880|0.04880	-0.145|-0.145	0.51233|0.51233	D|D	0.99991|0.99991	.|P;B;B;B;B;P	.|0.46912	.|0.761;0.027;0.452;0.452;0.01;0.886	.|B;B;B;B;B;P	.|0.55824	.|0.215;0.011;0.326;0.243;0.005;0.785	T|T	0.43829|0.43829	-0.9367|-0.9367	5|10	.|0.52906	.|T	.|0.07	.|.	5.1985|5.1985	0.15250|0.15250	0.1318:0.5591:0.0:0.3091|0.1318:0.5591:0.0:0.3091	.|.	.|259;321;259;6490;2828;8346	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	M|H	480;587|6490;8346;8346;2446;2828;6490;321;259	.|ENSP00000386259:Q6490H;ENSP00000380505:Q8346H;ENSP00000416578:Q8346H;ENSP00000410961:Q2828H;ENSP00000172853:Q6490H;ENSP00000380497:Q321H;ENSP00000427083:Q259H	.|ENSP00000172853:Q6490H	K|Q	-|-	2|3	0|2	NEB|NEB	152056877|152056877	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.925000|0.925000	0.55904|0.55904	0.717000|0.717000	0.25851|0.25851	0.024000|0.024000	0.15214|0.15214	-0.468000|-0.468000	0.05107|0.05107	AAG|CAA		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	197	0	0	0	0.00499	0	17	197				
NEB	4703	broad.mit.edu	37	2	152422283	152422283	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:152422283G>C	ENST00000172853.10	-	87	13252	c.13105C>G	c.(13105-13107)Ctg>Gtg	p.L4369V	NEB_ENST00000397345.3_Missense_Mutation_p.L6070V|NEB_ENST00000604864.1_Missense_Mutation_p.L6070V|NEB_ENST00000603639.1_Missense_Mutation_p.L6070V|NEB_ENST00000409198.1_Missense_Mutation_p.L4369V|NEB_ENST00000427231.2_Missense_Mutation_p.L6070V			P20929	NEBU_HUMAN	nebulin	4369					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAGAATCCAGTGGGATCCAG	0.478																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(13105-13107)CTG>GTG		nebulin isoform 3							51.0	54.0	53.0					2																	152422283		1929	4129	6058	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152422283G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13105C>G	2.37:g.152422283G>C	ENSP00000172853:p.Leu4369Val					NEB_uc002txr.2_Missense_Mutation_p.L792V	p.L4369V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	87	13296	-			4369			Nebulin 120.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.13105C>G		.	.	.	.	.	.	.	.	.	.	G	19.41	3.821936	0.71028	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.08370	3.17;3.11;3.1;3.24;3.17	6.16	2.41	0.29592	.	0.132003	0.51477	D	0.000095	T	0.07458	0.0188	N	0.19112	0.55	0.80722	D	1	P;B	0.46277	0.875;0.063	P;B	0.49887	0.625;0.056	T	0.37430	-0.9706	10	0.10111	T	0.7	.	10.3307	0.43820	0.3157:0.0:0.6842:0.0	.	4369;800	P20929;Q14215	NEBU_HUMAN;.	V	4369;6070;6070;418;800;4369	ENSP00000386259:L4369V;ENSP00000380505:L6070V;ENSP00000416578:L6070V;ENSP00000410961:L800V;ENSP00000172853:L4369V	ENSP00000172853:L4369V	L	-	1	2	NEB	152130529	0.245000	0.23899	0.988000	0.46212	0.913000	0.54294	0.491000	0.22419	0.498000	0.27948	0.650000	0.86243	CTG		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	8	0	0	0	0.004482	0	8	8				
NEB	4703	broad.mit.edu	37	2	152507197	152507197	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:152507197T>A	ENST00000172853.10	-	53	7265	c.7118A>T	c.(7117-7119)cAg>cTg	p.Q2373L	NEB_ENST00000397345.3_Missense_Mutation_p.Q2373L|NEB_ENST00000604864.1_Missense_Mutation_p.Q2373L|NEB_ENST00000603639.1_Missense_Mutation_p.Q2373L|NEB_ENST00000409198.1_Missense_Mutation_p.Q2373L|NEB_ENST00000427231.2_Missense_Mutation_p.Q2373L			P20929	NEBU_HUMAN	nebulin	2373					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACCAACTCCTGACACTTCTT	0.453																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7117-7119)CAG>CTG		nebulin isoform 3							277.0	278.0	278.0					2																	152507197		2028	4188	6216	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152507197T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7118A>T	2.37:g.152507197T>A	ENSP00000172853:p.Gln2373Leu						p.Q2373L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	53	7309	-			2373			Nebulin 63.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7118A>T		.	.	.	.	.	.	.	.	.	.	T	21.1	4.100942	0.76983	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.91406	3.205	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	T	0.76615	-0.2894	10	0.45353	T	0.12	.	15.3499	0.74376	0.0:0.0:0.0:1.0	.	2373	P20929	NEBU_HUMAN	L	2373	ENSP00000386259:Q2373L;ENSP00000380505:Q2373L;ENSP00000416578:Q2373L;ENSP00000172853:Q2373L	ENSP00000172853:Q2373L	Q	-	2	0	NEB	152215443	1.000000	0.71417	0.785000	0.31869	0.630000	0.37929	7.988000	0.88194	2.032000	0.59987	0.528000	0.53228	CAG		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		33	332	0	0	0	0.010818	0	33	332				
PLA2R1	22925	broad.mit.edu	37	2	160884857	160884857	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:160884857G>T	ENST00000283243.7	-	6	1177	c.971C>A	c.(970-972)cCa>cAa	p.P324Q	PLA2R1_ENST00000392771.1_Missense_Mutation_p.P324Q	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	324	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCAACAAATGGCTCAAAATT	0.353																																							uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(970-972)CCA>CAA		phospholipase A2 receptor 1 isoform 1 precursor							60.0	66.0	64.0					2																	160884857		2202	4300	6502	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160884857G>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.971C>A	2.37:g.160884857G>T	ENSP00000283243:p.Pro324Gln					PLA2R1_uc010zcp.1_Missense_Mutation_p.P324Q|PLA2R1_uc002ubf.2_Missense_Mutation_p.P324Q	p.P324Q	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			6	1178	-			324			Extracellular (Potential).|C-type lectin 1.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.971C>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478386	0.63849	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.70986	-0.53;-0.53	5.8	5.8	0.92144	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.056845	0.64402	D	0.000001	T	0.81187	0.4770	M	0.64997	1.995	0.44539	D	0.997496	P;D;D	0.67145	0.905;0.994;0.996	P;P;D	0.66497	0.788;0.899;0.944	T	0.81280	-0.1004	10	0.54805	T	0.06	.	15.5468	0.76108	0.0:0.0:1.0:0.0	.	324;324;324	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	Q	324	ENSP00000283243:P324Q;ENSP00000376524:P324Q	ENSP00000283243:P324Q	P	-	2	0	PLA2R1	160593103	0.831000	0.29352	1.000000	0.80357	0.596000	0.36781	3.653000	0.54446	2.749000	0.94314	0.655000	0.94253	CCA		0.353	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			5	68	1	0	1.024e-07	0.000602	1.42689e-07	5	68				
GRB14	2888	broad.mit.edu	37	2	165353989	165353989	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:165353989T>C	ENST00000263915.3	-	10	1654	c.1116A>G	c.(1114-1116)tcA>tcG	p.S372S	GRB14_ENST00000543549.1_Silent_p.S285S|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	372					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGGAATTCTCTGATATACTTC	0.353																																							uc002ucl.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(1114-1116)TCA>TCG		growth factor receptor-bound protein 14							72.0	72.0	72.0					2																	165353989		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353989T>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1116A>G	2.37:g.165353989T>C						GRB14_uc010zcv.1_Silent_p.S285S|GRB14_uc002ucm.2_RNA	p.S372S	NM_004490	NP_004481	Q14449	GRB14_HUMAN			10	1657	-			372					B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.1116A>G	CCDS2222.1																																																																																				0.353	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			12	78	0	0	0	0.001368	0	12	78				
SCN3A	6328	broad.mit.edu	37	2	166026976	166026976	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:166026976G>A	ENST00000360093.3	-	4	838	c.347C>T	c.(346-348)cCt>cTt	p.P116L	SCN3A_ENST00000283254.7_Missense_Mutation_p.P116L|SCN3A_ENST00000409101.3_Missense_Mutation_p.P116L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	116					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCCTAACAGGGTTTAGTGG	0.313																																							uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(346-348)CCT>CTT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						53.0	54.0	54.0					2																	166026976		2202	4296	6498	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166026976G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.347C>T	2.37:g.166026976G>A	ENSP00000353206:p.Pro116Leu					SCN3A_uc002ucy.2_Missense_Mutation_p.P116L|SCN3A_uc002ucz.2_Missense_Mutation_p.P116L|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	p.P116L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			4	839	-			116					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.347C>T		.	.	.	.	.	.	.	.	.	.	G	14.26	2.481415	0.44147	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.96967	-4.19;-4.18;-4.14;-4.0;-3.66	4.88	4.88	0.63580	.	0.000000	0.56097	D	0.000025	D	0.93374	0.7887	L	0.41710	1.295	0.80722	D	1	B;B;B	0.24426	0.103;0.051;0.015	B;B;B	0.25759	0.063;0.063;0.016	D	0.90942	0.4798	10	0.11794	T	0.64	.	18.3826	0.90455	0.0:0.0:1.0:0.0	.	116;116;116	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	L	116	ENSP00000353206:P116L;ENSP00000283254:P116L;ENSP00000386726:P116L;ENSP00000403348:P116L;ENSP00000391569:P116L	ENSP00000283254:P116L	P	-	2	0	SCN3A	165735222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.679000	0.68160	2.391000	0.81399	0.650000	0.86243	CCT		0.313	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	43	0	0	0	0.001168	0	6	43				
SCN2A	6326	broad.mit.edu	37	2	166245987	166245987	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:166245987G>A	ENST00000375437.2	+	27	5961	c.5671G>A	c.(5671-5673)Gtc>Atc	p.V1891I	SCN2A_ENST00000357398.3_Missense_Mutation_p.V1891I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1891I|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1891I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1891					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCCTCCAAAGTCTCTTATGA	0.453																																							uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(5671-5673)GTC>ATC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						93.0	84.0	87.0					2																	166245987		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245987G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5671G>A	2.37:g.166245987G>A	ENSP00000364586:p.Val1891Ile					SCN2A_uc002udd.2_Missense_Mutation_p.V1891I|SCN2A_uc002ude.2_Missense_Mutation_p.V1891I	p.V1891I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	5961	+			1891					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5671G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159271	0.21454	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000007	D	0.94417	0.8204	L	0.52905	1.665	0.43896	D	0.996527	B;B	0.22146	0.028;0.065	B;B	0.28991	0.03;0.097	D	0.90781	0.4679	10	0.27785	T	0.31	.	20.1816	0.98205	0.0:0.0:1.0:0.0	.	1891;1891	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1891	ENSP00000364586:V1891I;ENSP00000349973:V1891I;ENSP00000283256:V1891I;ENSP00000364576:V1891I	ENSP00000283256:V1891I	V	+	1	0	SCN2A	165954233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.819000	0.62664	2.781000	0.95711	0.580000	0.79431	GTC		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		12	49	0	0	0	0.010729	0	12	49				
CSRNP3	80034	broad.mit.edu	37	2	166533059	166533059	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:166533059T>A	ENST00000342316.4	+	4	918	c.646T>A	c.(646-648)Tgc>Agc	p.C216S	CSRNP3_ENST00000409420.1_Missense_Mutation_p.C248S|CSRNP3_ENST00000314499.7_Missense_Mutation_p.C216S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	216	Cys-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGGCTGTGACTGCCGAGTGTT	0.542																																							uc002udf.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(646-648)TGC>AGC		cysteine-serine-rich nuclear protein 3							68.0	66.0	66.0					2																	166533059		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166533059T>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.646T>A	2.37:g.166533059T>A	ENSP00000344042:p.Cys216Ser					CSRNP3_uc002udg.2_Missense_Mutation_p.C216S	p.C216S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			6	1022	+			216			Cys-rich.		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.646T>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	T	32	5.120372	0.94385	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.77	5.77	0.91146	.	0.049559	0.85682	D	0.000000	T	0.66934	0.2840	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71623	-0.4537	10	0.87932	D	0	-15.989	15.5753	0.76373	0.0:0.0:0.0:1.0	.	216	Q8WYN3	CSRN3_HUMAN	S	216;223;216;216;248	ENSP00000412081:C216S;ENSP00000318258:C216S;ENSP00000344042:C216S;ENSP00000387195:C248S	ENSP00000318258:C216S	C	+	1	0	CSRNP3	166241305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	TGC		0.542	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		9	78	0	0	0	0.004482	0	9	78				
XIRP2	129446	broad.mit.edu	37	2	168099387	168099387	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:168099387G>A	ENST00000409195.1	+	9	1574	c.1485G>A	c.(1483-1485)ttG>ttA	p.L495L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L495L|XIRP2_ENST00000409273.1_Silent_p.L273L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	320					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGAAATTTGTATGAATTAA	0.363																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(1483-1485)TTG>TTA		xin actin-binding repeat containing 2 isoform 1							48.0	46.0	46.0					2																	168099387		1805	4067	5872	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099387G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1485G>A	2.37:g.168099387G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L320L|XIRP2_uc010fpq.2_Silent_p.L273L|XIRP2_uc010fpr.2_Intron	p.L495L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1503	+			320					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.1485G>A	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	30	0	0	0	0.001984	0	6	30				
XIRP2	129446	broad.mit.edu	37	2	168100659	168100659	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:168100659A>C	ENST00000409195.1	+	9	2846	c.2757A>C	c.(2755-2757)caA>caC	p.Q919H	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q919H|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q697H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	744					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAAACCCAACCTCTGGAAG	0.363																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(2755-2757)CAA>CAC		xin actin-binding repeat containing 2 isoform 1							49.0	47.0	48.0					2																	168100659		1827	4085	5912	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100659A>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2757A>C	2.37:g.168100659A>C	ENSP00000386840:p.Gln919His					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q744H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q697H|XIRP2_uc010fpr.2_Intron	p.Q919H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2775	+			744			Xin 11.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2757A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	9.421	1.083126	0.20309	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.43688	0.94;0.94;0.94	5.98	3.63	0.41609	.	0.110624	0.64402	D	0.000007	T	0.48822	0.1521	L	0.34521	1.04	0.41718	D	0.989499	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.98;0.98	T	0.44267	-0.9339	10	0.56958	D	0.05	-15.8836	8.2429	0.31671	0.7286:0.0:0.2714:0.0	.	744;744;697	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	919;919;697	ENSP00000386840:Q919H;ENSP00000295237:Q919H;ENSP00000387255:Q697H	ENSP00000295237:Q919H	Q	+	3	2	XIRP2	167808905	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.647000	0.24812	0.527000	0.28560	0.533000	0.62120	CAA		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		3	34	0	0	0	0.004672	0	3	34				
XIRP2	129446	broad.mit.edu	37	2	168102030	168102030	+	Silent	SNP	A	A	G	rs540406060		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:168102030A>G	ENST00000409195.1	+	9	4217	c.4128A>G	c.(4126-4128)caA>caG	p.Q1376Q	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1376Q|XIRP2_ENST00000409273.1_Silent_p.Q1154Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1201					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTCACACAAGAAGACATTC	0.363																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(4126-4128)CAA>CAG		xin actin-binding repeat containing 2 isoform 1							68.0	63.0	65.0					2																	168102030		1840	4087	5927	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102030A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4128A>G	2.37:g.168102030A>G						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q1201Q|XIRP2_uc010fpq.2_Silent_p.Q1154Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.Q1376Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4146	+			1201					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.4128A>G	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	33	0	0	0	0.004482	0	9	33				
XIRP2	129446	broad.mit.edu	37	2	168107039	168107039	+	Missense_Mutation	SNP	C	C	A	rs200534519		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:168107039C>A	ENST00000409195.1	+	9	9226	c.9137C>A	c.(9136-9138)cCc>cAc	p.P3046H	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3046H|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2824H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2871					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAATAAACCCACTAGTCTT	0.333																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9136-9138)CCC>CAC		xin actin-binding repeat containing 2 isoform 1							102.0	96.0	98.0					2																	168107039		1833	4079	5912	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107039C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9137C>A	2.37:g.168107039C>A	ENSP00000386840:p.Pro3046His					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2871H|XIRP2_uc010fpq.2_Missense_Mutation_p.P2824H|XIRP2_uc010fpr.2_Intron	p.P3046H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9155	+			2871					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9137C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	7.994	0.753945	0.15778	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02863	4.13;4.13;4.13	5.88	2.1	0.27182	.	1.281220	0.05160	N	0.497545	T	0.05181	0.0138	M	0.62723	1.935	0.09310	N	1	B;B;B	0.21147	0.031;0.052;0.052	B;B;B	0.17722	0.009;0.019;0.019	T	0.43988	-0.9357	10	0.46703	T	0.11	0.4486	6.9492	0.24536	0.1235:0.6925:0.0:0.1839	.	2871;2871;2824	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3046;3046;2824;460	ENSP00000386840:P3046H;ENSP00000295237:P3046H;ENSP00000387255:P2824H	ENSP00000295237:P3046H	P	+	2	0	XIRP2	167815285	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.014000	0.12656	0.114000	0.18032	0.557000	0.71058	CCC		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	82	1	0	1.45105e-14	0.006122	2.49928e-14	15	82				
XIRP2	129446	broad.mit.edu	37	2	168107258	168107258	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:168107258C>A	ENST00000409195.1	+	9	9445	c.9356C>A	c.(9355-9357)cCg>cAg	p.P3119Q	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3119Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2897Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2944					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACACGCCCACCGTCACCAACT	0.423																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9355-9357)CCG>CAG		xin actin-binding repeat containing 2 isoform 1							86.0	83.0	84.0					2																	168107258		1875	4103	5978	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107258C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9356C>A	2.37:g.168107258C>A	ENSP00000386840:p.Pro3119Gln					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2944Q|XIRP2_uc010fpq.2_Missense_Mutation_p.P2897Q|XIRP2_uc010fpr.2_Intron	p.P3119Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9374	+			2944					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9356C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846454	0.16963	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.04406	3.65;3.65;3.63	5.88	2.98	0.34508	.	0.172815	0.51477	N	0.000083	T	0.07098	0.0180	M	0.63843	1.955	0.52501	D	0.999959	P;P;P	0.45531	0.656;0.86;0.86	B;B;B	0.40375	0.175;0.327;0.327	T	0.19451	-1.0305	10	0.48119	T	0.1	-0.1183	10.9843	0.47513	0.2861:0.5949:0.1191:0.0	.	2944;2944;2897	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	3119;3119;2897;533	ENSP00000386840:P3119Q;ENSP00000295237:P3119Q;ENSP00000387255:P2897Q	ENSP00000295237:P3119Q	P	+	2	0	XIRP2	167815504	0.953000	0.32496	0.004000	0.12327	0.347000	0.29111	3.463000	0.53050	0.315000	0.23110	0.557000	0.71058	CCG		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		31	30	1	0	3.17567e-06	0.008361	4.0806e-06	31	30				
LRP2	4036	broad.mit.edu	37	2	170063602	170063602	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:170063602C>T	ENST00000263816.3	-	39	6913	c.6628G>A	c.(6628-6630)Ggg>Agg	p.G2210R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2210					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGTCTCTGCCCATAGTCAGCC	0.493																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6628-6630)GGG>AGG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						172.0	158.0	162.0					2																	170063602		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063602C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6628G>A	2.37:g.170063602C>T	ENSP00000263816:p.Gly2210Arg						p.G2210R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6841	-			2210			LDL-receptor class B 22.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6628G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926810	0.92319	.	.	ENSG00000081479	ENST00000263816	D	0.95171	-3.63	5.98	5.98	0.97165	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98696	1.0698	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2210	P98164	LRP2_HUMAN	R	2210	ENSP00000263816:G2210R	ENSP00000263816:G2210R	G	-	1	0	LRP2	169771848	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GGG		0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		24	168	0	0	0	0.004656	0	24	168				
LRP2	4036	broad.mit.edu	37	2	170151180	170151180	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:170151180G>A	ENST00000263816.3	-	5	753	c.468C>T	c.(466-468)gcC>gcT	p.A156A	LRP2_ENST00000443831.1_Silent_p.A156A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	156	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGTTATAGCAGGCCCCATTGT	0.368																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(466-468)GCC>GCT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						106.0	97.0	100.0					2																	170151180		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170151180G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.468C>T	2.37:g.170151180G>A						LRP2_uc010zdf.1_Silent_p.A156A	p.A156A	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	5	681	-			156			LDL-receptor class A 4.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.468C>T	CCDS2232.1																																																																																				0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	56	0	0	0	0.006214	0	10	56				
PPIG	9360	broad.mit.edu	37	2	170493265	170493265	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:170493265A>G	ENST00000260970.3	+	14	1717	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	PPIG_ENST00000409714.3_Silent_p.E484E|PPIG_ENST00000448752.2_Silent_p.E499E|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	499					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATGTTAAAGAAAAAGAAAAGC	0.323																																							uc002uez.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1495-1497)GAA>GAG		peptidylprolyl isomerase G	L-Proline(DB00172)						38.0	40.0	39.0					2																	170493265		2198	4296	6494	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493265A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1497A>G	2.37:g.170493265A>G						PPIG_uc010fpx.2_Silent_p.E484E|PPIG_uc010fpy.2_Silent_p.E492E|PPIG_uc002ufb.2_Silent_p.E499E|PPIG_uc002ufd.2_Silent_p.E496E	p.E499E	NM_004792	NP_004783	Q13427	PPIG_HUMAN			14	1717	+			499					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.1497A>G	CCDS2235.1																																																																																				0.323	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			5	33	0	0	0	0.001168	0	5	33				
CCDC173	129881	broad.mit.edu	37	2	170502615	170502615	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:170502615A>T	ENST00000447353.1	-	9	1500	c.1395T>A	c.(1393-1395)gcT>gcA	p.A465A		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	465																	TCTCCTTTTCAGCCACAAGAG	0.348																																							uc002ufe.2		NA																	0					0						c.(1393-1395)GCT>GCA		hypothetical protein LOC129881							215.0	216.0	215.0					2																	170502615		1845	4088	5933	SO:0001819	synonymous_variant	129881							g.chr2:170502615A>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1395T>A	2.37:g.170502615A>T							p.A465A	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			9	1489	-			465			Potential.		Q6PJF6	Silent	SNP	ENST00000447353.1	37	c.1395T>A	CCDS46445.1																																																																																				0.348	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		45	277	0	0	0	0.00361	0	45	277				
WIPF1	7456	broad.mit.edu	37	2	175436472	175436472	+	Nonsense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:175436472G>C	ENST00000392547.2	-	5	1160	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	WIPF1_ENST00000359761.3_Nonsense_Mutation_p.S354*|WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Nonsense_Mutation_p.S354*|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Nonsense_Mutation_p.S354*|WIPF1_ENST00000272746.5_Nonsense_Mutation_p.S354*|WIPF1_ENST00000409891.1_Nonsense_Mutation_p.S354*	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	354	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AAGAGGACCTGAACGTCCTGG	0.612																																							uc002uiy.2		NA																	0				ovary(1)|skin(1)	2						c.(1060-1062)TCA>TGA		WAS/WASL interacting protein family, member 1							65.0	68.0	67.0					2																	175436472		2203	4300	6503	SO:0001587	stop_gained	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436472G>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1061C>G	2.37:g.175436472G>C	ENSP00000376330:p.Ser354*					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Nonsense_Mutation_p.S354*|WIPF1_uc010fqt.1_Nonsense_Mutation_p.S354*|WIPF1_uc002ujc.1_Nonsense_Mutation_p.S354*|WIPF1_uc002uiz.2_Nonsense_Mutation_p.S354*|WIPF1_uc002ujb.1_Nonsense_Mutation_p.S354*|WIPF1_uc010zep.1_Nonsense_Mutation_p.S354*	p.S354*	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	1393	-			354			XRSGPXPPXP motif 1.|Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Nonsense_Mutation	SNP	ENST00000392547.2	37	c.1061C>G	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863967	0.51482	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	.	.	.	5.03	4.15	0.48705	.	0.224693	0.38492	N	0.001661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9667	0.58488	0.0793:0.0:0.9207:0.0	.	.	.	.	X	354	.	ENSP00000272746:S354X	S	-	2	0	WIPF1	175144718	0.994000	0.37717	0.017000	0.16124	0.014000	0.08584	5.436000	0.66538	1.130000	0.42092	-0.310000	0.09108	TCA		0.612	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		27	117	0	0	0	0.003954	0	27	117				
CHRNA1	1134	broad.mit.edu	37	2	175612944	175612944	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:175612944G>A	ENST00000261007.5	-	10	1423	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.H348Y|CHRNA1_ENST00000409542.1_Missense_Mutation_p.H346Y|CHRNA1_ENST00000348749.5_Missense_Mutation_p.H428Y	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	453					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AGGAGTATGTGGTCCATCACC	0.488																																							uc002ujd.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1357-1359)CAC>TAC		nicotinic cholinergic receptor alpha 1 isoform a							92.0	84.0	87.0					2																	175612944		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175612944G>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1357C>T	2.37:g.175612944G>A	ENSP00000261007:p.His453Tyr					uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.H428Y	p.H453Y	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			10	1435	-			453			Cytoplasmic.		B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.1357C>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328178	0.81690	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.79	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.975	D	0.92648	0.6130	10	0.87932	D	0	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	428;453	Q53SH4;P02708	.;ACHA_HUMAN	Y	428;453;346;348	ENSP00000261008:H428Y;ENSP00000261007:H453Y;ENSP00000387026:H346Y;ENSP00000386611:H348Y	ENSP00000261007:H453Y	H	-	1	0	CHRNA1	175321190	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.841000	0.86834	2.664000	0.90586	0.655000	0.94253	CAC		0.488	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			13	54	0	0	0	0.001368	0	13	54				
HOXD9	3235	broad.mit.edu	37	2	176988789	176988789	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:176988789C>T	ENST00000249499.6	+	2	1354	c.945C>T	c.(943-945)cgC>cgT	p.R315R	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	315					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGGACCGGCGCTACGAGGTGG	0.502																																					GBM(47;924 952 7959 9248 12176)	GBM(47;924 952 7959 9248 12176)	uc010zex.1		NA																	0					0						c.(943-945)CGC>CGT		homeobox D9							85.0	97.0	93.0					2																	176988789		2203	4300	6503	SO:0001819	synonymous_variant	3235					nucleus	sequence-specific DNA binding	g.chr2:176988789C>T		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.945C>T	2.37:g.176988789C>T							p.R315R	NM_014213	NP_055028	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	1029	+			315			Homeobox.		Q86ST1	Silent	SNP	ENST00000249499.6	37	c.945C>T	CCDS2267.2																																																																																				0.502	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			26	89	0	0	0	0.005443	0	26	89				
HNRNPA3	220988	broad.mit.edu	37	2	178081299	178081299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:178081299C>T	ENST00000392524.2	+	5	859	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	HNRNPA3_ENST00000435711.1_Nonsense_Mutation_p.Q208*|HNRNPA3_ENST00000411529.2_Nonsense_Mutation_p.Q186*			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	208					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ACAAGAGATGCAGTCTGCTGG	0.358																																							uc002ulb.1		NA																	0				ovary(2)	2						c.(622-624)CAG>TAG		heterogeneous nuclear ribonucleoprotein A3							133.0	133.0	133.0					2																	178081299		2203	4300	6503	SO:0001587	stop_gained	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178081299C>T	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.622C>T	2.37:g.178081299C>T	ENSP00000376309:p.Gln208*					HNRNPA3_uc002ulc.1_Nonsense_Mutation_p.Q208*|HNRNPA3_uc002uld.2_Nonsense_Mutation_p.Q186*|HNRNPA3_uc002ule.2_5'Flank	p.Q208*	NM_194247	NP_919223	P51991	ROA3_HUMAN			5	728	+			208					D3DPF4|Q53RW7|Q6URK5	Nonsense_Mutation	SNP	ENST00000392524.2	37	c.622C>T	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316739	0.95682	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	.	.	.	3.89	3.89	0.44902	.	0.000000	0.44285	D	0.000463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	16.4246	0.83810	0.0:1.0:0.0:0.0	.	.	.	.	X	208;186;186;186;208;16	.	ENSP00000376309:Q208X	Q	+	1	0	HNRNPA3	177789545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.241000	0.43097	2.197000	0.70478	0.551000	0.68910	CAG		0.358	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		10	156	0	0	0	0.001368	0	10	156				
AGPS	8540	broad.mit.edu	37	2	178310322	178310322	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:178310322G>T	ENST00000264167.4	+	8	984	c.838G>T	c.(838-840)Gct>Tct	p.A280S	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	280	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TCATGTAGAGGCTGGCATAAC	0.313																																							uc002ull.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(838-840)GCT>TCT		alkyldihydroxyacetone phosphate synthase							88.0	85.0	86.0					2																	178310322		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178310322G>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.838G>T	2.37:g.178310322G>T	ENSP00000264167:p.Ala280Ser					AGPS_uc010zfb.1_Missense_Mutation_p.A190S	p.A280S	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		8	885	+			280			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.838G>T	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506241	0.85282	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.87412	-2.25	5.87	5.87	0.94306	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.049142	0.85682	D	0.000000	D	0.88005	0.6321	L	0.58925	1.835	0.80722	D	1	P	0.42456	0.78	B	0.43783	0.431	D	0.86384	0.1731	10	0.37606	T	0.19	.	20.2057	0.98277	0.0:0.0:1.0:0.0	.	280	O00116	ADAS_HUMAN	S	280;150	ENSP00000264167:A280S	ENSP00000264167:A280S	A	+	1	0	AGPS	178018568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.258000	0.89853	2.780000	0.95670	0.655000	0.94253	GCT		0.313	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			4	35	1	0	0.000602214	0.000602	0.000676645	4	35				
TTN	7273	broad.mit.edu	37	2	179417574	179417574	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179417574G>T	ENST00000591111.1	-	285	85354	c.85130C>A	c.(85129-85131)cCc>cAc	p.P28377H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30018H|TTN_ENST00000342175.6_Missense_Mutation_p.P21145H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P20953H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21078H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27450H|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28377	Fibronectin type-III 106. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTCACAGGGTTCCCCAAT	0.433																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(82348-82350)CCC>CAC		titin isoform N2-A							53.0	51.0	51.0					2																	179417574		1893	4115	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417574G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85130C>A	2.37:g.179417574G>T	ENSP00000465570:p.Pro28377His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21145H|TTN_uc010zfi.1_Missense_Mutation_p.P21078H|TTN_uc010zfj.1_Missense_Mutation_p.P20953H	p.P27450H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	82573	-			28377					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82349C>A		.	.	.	.	.	.	.	.	.	.	G	15.45	2.837300	0.50951	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.69	5.69	0.88448	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84955	0.5587	H	0.98818	4.34	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.77004	0.979;0.921;0.921;0.989	D	0.90450	0.4438	9	0.87932	D	0	.	20.179	0.98193	0.0:0.0:1.0:0.0	.	20953;21078;21145;28377	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	27450;20953;21145;21078;20950	ENSP00000343764:P27450H;ENSP00000434586:P20953H;ENSP00000340554:P21145H;ENSP00000352154:P21078H	ENSP00000340554:P21145H	P	-	2	0	TTN	179125820	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.712000	0.74681	2.847000	0.97988	0.655000	0.94253	CCC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	64	1	0	0.00010058	0.001368	0.000118575	13	64				
TTN	7273	broad.mit.edu	37	2	179436920	179436920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179436920G>A	ENST00000591111.1	-	276	69240	c.69016C>T	c.(69016-69018)Cga>Tga	p.R23006*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R24647*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R15774*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R15582*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R15707*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R22079*|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23006	Fibronectin type-III 67. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTAGAATTCGGCTGCCTCCA	0.468																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(66235-66237)CGA>TGA		titin isoform N2-A							86.0	82.0	84.0					2																	179436920		2056	4207	6263	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436920G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69016C>T	2.37:g.179436920G>A	ENSP00000465570:p.Arg23006*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R15774*|TTN_uc010zfi.1_Nonsense_Mutation_p.R15707*|TTN_uc010zfj.1_Nonsense_Mutation_p.R15582*	p.R22079*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66459	-			23006					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.66235C>T		.	.	.	.	.	.	.	.	.	.	G	63	72.077575	0.99992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.07	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.141	0.65320	0.0:0.0:0.5625:0.4374	.	.	.	.	X	22079;15582;15774;15707;15580	.	ENSP00000340554:R15774X	R	-	1	2	TTN	179145166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.320000	0.51991	1.517000	0.48917	0.650000	0.86243	CGA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	68	0	0	0	0.000602	0	5	68				
TTN	7273	broad.mit.edu	37	2	179439522	179439522	+	Silent	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179439522G>C	ENST00000591111.1	-	276	66638	c.66414C>G	c.(66412-66414)acC>acG	p.T22138T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.T23779T|TTN_ENST00000342175.6_Silent_p.T14906T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.T14714T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T14839T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.T21211T|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22138	Fibronectin type-III 60. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATAACGGTGGTTGCTAACT	0.468																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(63631-63633)ACC>ACG		titin isoform N2-A							93.0	90.0	91.0					2																	179439522		1950	4139	6089	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439522G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66414C>G	2.37:g.179439522G>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14906T|TTN_uc010zfi.1_Silent_p.T14839T|TTN_uc010zfj.1_Silent_p.T14714T	p.T21211T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63857	-			22138					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.63633C>G																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	83	0	0	0	0.008291	0	11	83				
TTN	7273	broad.mit.edu	37	2	179441663	179441663	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179441663C>A	ENST00000591111.1	-	274	64700	c.64476G>T	c.(64474-64476)atG>atT	p.M21492I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M23133I|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M14260I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M14068I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M14193I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M20565I|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21492	Fibronectin type-III 55. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGTCTACCATTTTGACAG	0.393																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(61693-61695)ATG>ATT		titin isoform N2-A							189.0	183.0	185.0					2																	179441663		1901	4114	6015	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441663C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64476G>T	2.37:g.179441663C>A	ENSP00000465570:p.Met21492Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M14260I|TTN_uc010zfi.1_Missense_Mutation_p.M14193I|TTN_uc010zfj.1_Missense_Mutation_p.M14068I|uc002umv.1_5'Flank	p.M20565I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61919	-			21492					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.61695G>T		.	.	.	.	.	.	.	.	.	.	C	12.03	1.815241	0.32053	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62105	0.05;0.29;0.27;0.26	5.72	3.92	0.45320	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50086	0.1595	L	0.31207	0.915	0.53688	D	0.999977	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.47420	-0.9119	9	0.87932	D	0	.	12.026	0.53371	0.0:0.8125:0.1217:0.0658	.	14068;14193;14260;21492	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	20565;14068;14260;14193;14066	ENSP00000343764:M20565I;ENSP00000434586:M14068I;ENSP00000340554:M14260I;ENSP00000352154:M14193I	ENSP00000340554:M14260I	M	-	3	0	TTN	179149909	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.770000	0.85390	0.874000	0.35823	-0.136000	0.14681	ATG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	296	1	0	1.07121e-22	0.006999	1.99677e-22	36	296				
TTN	7273	broad.mit.edu	37	2	179449937	179449937	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179449937G>T	ENST00000591111.1	-	259	59835	c.59611C>A	c.(59611-59613)Cac>Aac	p.H19871N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H21512N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H12639N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H12447N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H12572N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H18944N|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19871	Ig-like 110.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCCAGGTGGCTGGATGTG	0.443																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(56830-56832)CAC>AAC		titin isoform N2-A							331.0	305.0	314.0					2																	179449937		1906	4144	6050	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449937G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59611C>A	2.37:g.179449937G>T	ENSP00000465570:p.His19871Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.H12639N|TTN_uc010zfi.1_Missense_Mutation_p.H12572N|TTN_uc010zfj.1_Missense_Mutation_p.H12447N	p.H18944N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		258	57054	-			19871					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.56830C>A		.	.	.	.	.	.	.	.	.	.	G	18.66	3.671689	0.67928	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37128	0.0992	N	0.17082	0.46	0.49213	D	0.999764	B;B;B;B	0.23185	0.081;0.081;0.081;0.081	B;B;B;B	0.30943	0.122;0.122;0.122;0.084	T	0.20773	-1.0265	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	12447;12572;12639;19871	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	18944;12447;12639;12572;12445	ENSP00000343764:H18944N;ENSP00000434586:H12447N;ENSP00000340554:H12639N;ENSP00000352154:H12572N	ENSP00000340554:H12639N	H	-	1	0	TTN	179158183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	CAC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		202	223	1	0	3.48826e-88	0.00361	6.80831e-88	202	223				
TTN	7273	broad.mit.edu	37	2	179453306	179453306	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179453306G>T	ENST00000591111.1	-	254	58447	c.58223C>A	c.(58222-58224)cCa>cAa	p.P19408Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21049Q|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12176Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11984Q|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12109Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18481Q			Q8WZ42	TITIN_HUMAN	titin	19408	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCAAGCTTGGTTCTCCAAT	0.433																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(55441-55443)CCA>CAA		titin isoform N2-A							226.0	212.0	217.0					2																	179453306		1905	4121	6026	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453306G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58223C>A	2.37:g.179453306G>T	ENSP00000465570:p.Pro19408Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12176Q|TTN_uc010zfi.1_Missense_Mutation_p.P12109Q|TTN_uc010zfj.1_Missense_Mutation_p.P11984Q	p.P18481Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	55666	-			19408					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55442C>A		.	.	.	.	.	.	.	.	.	.	G	14.99	2.701552	0.48307	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79587	0.4471	M	0.93016	3.37	0.80722	D	1	D;P;P;D	0.55800	0.973;0.943;0.943;0.973	P;P;P;P	0.62089	0.864;0.617;0.617;0.898	T	0.82723	-0.0316	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	11984;12109;12176;19408	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18481;11984;12176;12109;11982	ENSP00000343764:P18481Q;ENSP00000434586:P11984Q;ENSP00000340554:P12176Q;ENSP00000352154:P12109Q	ENSP00000340554:P12176Q	P	-	2	0	TTN	179161552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	312	1	0	1.89013e-27	0.00361	3.61035e-27	44	312				
TTN	7273	broad.mit.edu	37	2	179464352	179464352	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179464352G>C	ENST00000591111.1	-	239	51577	c.51353C>G	c.(51352-51354)aCt>aGt	p.T17118S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T18759S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T9886S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T9694S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9819S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T16191S			Q8WZ42	TITIN_HUMAN	titin	17118	Ig-like 102.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATAAGCCAGTGTCACTCCT	0.418																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(48571-48573)ACT>AGT		titin isoform N2-A							237.0	231.0	233.0					2																	179464352		1928	4136	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464352G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51353C>G	2.37:g.179464352G>C	ENSP00000465570:p.Thr17118Ser					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T9886S|TTN_uc010zfi.1_Missense_Mutation_p.T9819S|TTN_uc010zfj.1_Missense_Mutation_p.T9694S	p.T16191S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		238	48796	-			17118					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48572C>G		.	.	.	.	.	.	.	.	.	.	G	13.66	2.302373	0.40694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46210	0.1381	N	0.04636	-0.2	0.47214	D	0.999356	B;B;B;B	0.30605	0.122;0.122;0.122;0.287	B;B;B;B	0.31869	0.137;0.137;0.137;0.137	T	0.53592	-0.8417	9	0.87932	D	0	.	19.5067	0.95121	0.0:0.0:1.0:0.0	.	9694;9819;9886;17118	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	16191;9694;9886;9819;9692	ENSP00000343764:T16191S;ENSP00000434586:T9694S;ENSP00000340554:T9886S;ENSP00000352154:T9819S	ENSP00000340554:T9886S	T	-	2	0	TTN	179172597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.968000	0.49224	2.609000	0.88269	0.650000	0.86243	ACT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	355	0	0	0	0.00278	0	23	355				
TTN	7273	broad.mit.edu	37	2	179468686	179468686	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179468686T>A	ENST00000591111.1	-	232	50029	c.49805A>T	c.(49804-49806)cAg>cTg	p.Q16602L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q18243L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q9370L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q9178L|TTN_ENST00000359218.5_Missense_Mutation_p.Q9303L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q15675L			Q8WZ42	TITIN_HUMAN	titin	16602	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTCTGAACTGGTATTTAAC	0.458																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(47023-47025)CAG>CTG		titin isoform N2-A							156.0	152.0	153.0					2																	179468686		1915	4139	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468686T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49805A>T	2.37:g.179468686T>A	ENSP00000465570:p.Gln16602Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q9370L|TTN_uc010zfi.1_Missense_Mutation_p.Q9303L|TTN_uc010zfj.1_Missense_Mutation_p.Q9178L	p.Q15675L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47248	-			16602					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47024A>T		.	.	.	.	.	.	.	.	.	.	T	15.27	2.782745	0.49891	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58807	0.2148	L	0.28740	0.885	0.54753	D	0.999987	D;D;D;D	0.57571	0.98;0.98;0.98;0.98	P;P;P;P	0.58130	0.819;0.819;0.819;0.833	T	0.62473	-0.6847	9	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	9178;9303;9370;16602	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15675;9178;9370;9303;9178	ENSP00000343764:Q15675L;ENSP00000434586:Q9178L;ENSP00000340554:Q9370L;ENSP00000352154:Q9303L	ENSP00000340554:Q9370L	Q	-	2	0	TTN	179176931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.879000	0.87236	2.323000	0.78572	0.528000	0.53228	CAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	258	0	0	0	0.009718	0	44	258				
TTN	7273	broad.mit.edu	37	2	179474428	179474428	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179474428T>A	ENST00000591111.1	-	222	47023	c.46799A>T	c.(46798-46800)aAa>aTa	p.K15600I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K17241I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8368I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8176I|TTN_ENST00000359218.5_Missense_Mutation_p.K8301I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14673I			Q8WZ42	TITIN_HUMAN	titin	15600	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTACAGCTTTGGTTGGAGG	0.418																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44017-44019)AAA>ATA		titin isoform N2-A							147.0	141.0	143.0					2																	179474428		1842	4094	5936	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474428T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46799A>T	2.37:g.179474428T>A	ENSP00000465570:p.Lys15600Ile					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K8368I|TTN_uc010zfi.1_Missense_Mutation_p.K8301I|TTN_uc010zfj.1_Missense_Mutation_p.K8176I	p.K14673I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44242	-			15600					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44018A>T		.	.	.	.	.	.	.	.	.	.	T	15.31	2.795073	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;0.11;0.09;0.08	5.85	5.85	0.93711	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64951	0.2645	N	0.10945	0.07	0.52501	D	0.99995	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.73049	-0.4105	9	0.87932	D	0	.	16.2375	0.82384	0.0:0.0:0.0:1.0	.	8176;8301;8368;15600	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14673;8176;8368;8301;8176	ENSP00000343764:K14673I;ENSP00000434586:K8176I;ENSP00000340554:K8368I;ENSP00000352154:K8301I	ENSP00000340554:K8368I	K	-	2	0	TTN	179182673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.991000	0.88244	2.222000	0.72286	0.533000	0.62120	AAA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	262	0	0	0	0.008361	0	31	262				
TTN	7273	broad.mit.edu	37	2	179482673	179482673	+	Missense_Mutation	SNP	G	G	T	rs398124453		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179482673G>T	ENST00000591111.1	-	203	42706	c.42482C>A	c.(42481-42483)tCt>tAt	p.S14161Y	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S15802Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6929Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6737Y|TTN_ENST00000359218.5_Missense_Mutation_p.S6862Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13234Y|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14161	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCTGATAGAAGTCTTGTC	0.468																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(39700-39702)TCT>TAT		titin isoform N2-A							159.0	156.0	157.0					2																	179482673		1988	4154	6142	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482673G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42482C>A	2.37:g.179482673G>T	ENSP00000465570:p.Ser14161Tyr					TTN_uc010zfh.1_Missense_Mutation_p.S6929Y|TTN_uc010zfi.1_Missense_Mutation_p.S6862Y|TTN_uc010zfj.1_Missense_Mutation_p.S6737Y	p.S13234Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		202	39925	-			14161					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39701C>A		.	.	.	.	.	.	.	.	.	.	G	14.00	2.404659	0.42613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80523	0.4639	M	0.93594	3.435	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	D	0.84859	0.0818	9	0.87932	D	0	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	6737;6862;6929;14161	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	13234;6737;6929;6862;6737	ENSP00000343764:S13234Y;ENSP00000434586:S6737Y;ENSP00000340554:S6929Y;ENSP00000352154:S6862Y	ENSP00000340554:S6929Y	S	-	2	0	TTN	179190918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.826000	0.97356	0.655000	0.94253	TCT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		85	115	1	0	1.59228e-47	0.00361	3.09358e-47	85	115				
TTN	7273	broad.mit.edu	37	2	179486621	179486621	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179486621C>G	ENST00000591111.1	-	194	40329	c.40105G>C	c.(40105-40107)Gaa>Caa	p.E13369Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15010Q|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6137Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5945Q|TTN_ENST00000359218.5_Missense_Mutation_p.E6070Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12442Q			Q8WZ42	TITIN_HUMAN	titin	13369	Ig-like 89.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAATATTCAGCTTCATCA	0.393																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(37324-37326)GAA>CAA		titin isoform N2-A							142.0	133.0	136.0					2																	179486621		1945	4136	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486621C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40105G>C	2.37:g.179486621C>G	ENSP00000465570:p.Glu13369Gln					TTN_uc010zfh.1_Missense_Mutation_p.E6137Q|TTN_uc010zfi.1_Missense_Mutation_p.E6070Q|TTN_uc010zfj.1_Missense_Mutation_p.E5945Q	p.E12442Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		193	37548	-			13369					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.37324G>C		.	.	.	.	.	.	.	.	.	.	C	15.20	2.761502	0.49468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81460	0.4827	M	0.62154	1.92	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81961	-0.0693	9	0.87932	D	0	.	20.0695	0.97716	0.0:1.0:0.0:0.0	.	5945;6070;6137;13369	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12442;5945;6137;6070;5945	ENSP00000343764:E12442Q;ENSP00000434586:E5945Q;ENSP00000340554:E6137Q;ENSP00000352154:E6070Q	ENSP00000340554:E6137Q	E	-	1	0	TTN	179194866	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	7.767000	0.85331	2.738000	0.93877	0.655000	0.94253	GAA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	63	0	0	0	0.010729	0	11	63				
TTN	7273	broad.mit.edu	37	2	179499928	179499928	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179499928T>C	ENST00000591111.1	-	178	37289	c.37065A>G	c.(37063-37065)caA>caG	p.Q12355Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Silent_p.Q13996Q|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.Q5123Q|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.Q4931Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Silent_p.Q5056Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.Q11428Q			Q8WZ42	TITIN_HUMAN	titin	12355					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTTTCCATTGTCCAGGAA	0.373																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(34282-34284)CAA>CAG		titin isoform N2-A							188.0	171.0	176.0					2																	179499928		1859	4106	5965	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179499928T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37065A>G	2.37:g.179499928T>C						TTN_uc010zfh.1_Silent_p.Q5123Q|TTN_uc010zfi.1_Silent_p.Q5056Q|TTN_uc010zfj.1_Silent_p.Q4931Q	p.Q11428Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		177	34508	-			12355					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.34284A>G																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	154	0	0	0	0.00245	0	13	154				
TTN	7273	broad.mit.edu	37	2	179500696	179500696	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179500696C>A	ENST00000591111.1	-	176	36903	c.36679G>T	c.(36679-36681)Gta>Tta	p.V12227L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13868L|TTN_ENST00000342175.6_Missense_Mutation_p.V4995L|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4803L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4928L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11300L			Q8WZ42	TITIN_HUMAN	titin	12227					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACCTACTACTTTTACGCAA	0.423																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(33898-33900)GTA>TTA		titin isoform N2-A							108.0	110.0	110.0					2																	179500696		1937	4138	6075	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500696C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36679G>T	2.37:g.179500696C>A	ENSP00000465570:p.Val12227Leu					TTN_uc010zfh.1_Missense_Mutation_p.V4995L|TTN_uc010zfi.1_Missense_Mutation_p.V4928L|TTN_uc010zfj.1_Missense_Mutation_p.V4803L	p.V11300L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		175	34122	-			12227					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33898G>T		.	.	.	.	.	.	.	.	.	.	C	13.94	2.385845	0.42308	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.87	5.87	0.94306	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28699	0.0711	M	0.77616	2.38	0.46376	D	0.999017	P;P;P;P	0.47762	0.9;0.9;0.9;0.9	P;P;P;P	0.45794	0.493;0.493;0.493;0.493	T	0.03240	-1.1057	9	0.87932	D	0	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	4803;4928;4995;12227	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11300;4803;4995;4928;4803	ENSP00000343764:V11300L;ENSP00000434586:V4803L;ENSP00000340554:V4995L;ENSP00000352154:V4928L	ENSP00000340554:V4995L	V	-	1	0	TTN	179208941	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.851000	0.55926	2.781000	0.95711	0.585000	0.79938	GTA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	169	1	0	3.41278e-10	0.00499	5.20335e-10	17	169				
TTN	7273	broad.mit.edu	37	2	179501527	179501527	+	Splice_Site	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179501527C>T	ENST00000591111.1	-	175	36229		c.e175-1		TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTACACCTAATTCAAAG	0.433																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.e174-1		titin isoform N2-A							39.0	39.0	39.0					2																	179501527		1862	4100	5962	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501527C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36005-1G>A	2.37:g.179501527C>T						TTN_uc010zfh.1_Splice_Site_p.G4770_splice|TTN_uc010zfi.1_Splice_Site_p.G4703_splice|TTN_uc010zfj.1_Splice_Site_p.G4578_splice|TTN_uc010fre.1_Intron	p.G11075_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		174	33448	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37	c.33224_splice		.	.	.	.	.	.	.	.	.	.	C	15.78	2.933996	0.52866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9795	0.97321	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179209772	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	3.880000	0.56145	2.720000	0.93068	0.650000	0.86243	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	6	54	0	0	0	0.001168	0	6	54				
TTN	7273	broad.mit.edu	37	2	179516249	179516249	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179516249T>A	ENST00000591111.1	-	162	35181	c.34957A>T	c.(34957-34959)Aag>Tag	p.K11653*	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.K13160*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K10726*			Q8WZ42	TITIN_HUMAN	titin	11653	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAACCTCCTTGGGCACCTCG	0.443																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(32176-32178)AAG>TAG		titin isoform N2-A							65.0	62.0	63.0					2																	179516249		1834	4085	5919	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516249T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34957A>T	2.37:g.179516249T>A	ENSP00000465570:p.Lys11653*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	p.K10726*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		161	32400	-			11653					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.32176A>T		.	.	.	.	.	.	.	.	.	.	T	61	53.351430	0.99988	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6154	0.45447	0.0:0.0779:0.0:0.9221	.	.	.	.	X	10726	.	ENSP00000343764:K10726X	K	-	1	0	TTN	179224494	0.001000	0.12720	1.000000	0.80357	0.900000	0.52787	0.378000	0.20569	2.094000	0.63399	0.528000	0.53228	AAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	108	0	0	0	0.000602	0	4	108				
TTN	7273	broad.mit.edu	37	2	179592456	179592456	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179592456C>A	ENST00000591111.1	-	66	19122	c.18898G>T	c.(18898-18900)Ggt>Tgt	p.G6300C	TTN_ENST00000589042.1_Missense_Mutation_p.G6617C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5373C|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13076	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTAGGACCTGAGACAAGT	0.393																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16117-16119)GGT>TGT		titin isoform N2-A							220.0	221.0	221.0					2																	179592456		1928	4137	6065	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592456C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18898G>T	2.37:g.179592456C>A	ENSP00000465570:p.Gly6300Cys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2034C	p.G5373C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	16341	-			6300					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16117G>T		.	.	.	.	.	.	.	.	.	.	C	9.477	1.097259	0.20552	.	.	ENSG00000155657	ENST00000342992	T	0.48836	0.8	5.99	5.12	0.69794	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78704	0.4325	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86141	0.1581	9	0.87932	D	0	.	15.4594	0.75342	0.0:0.9338:0.0:0.0662	.	6300	Q8WZ42	TITIN_HUMAN	C	5373	ENSP00000343764:G5373C	ENSP00000343764:G5373C	G	-	1	0	TTN	179300701	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.090000	0.71397	1.546000	0.49388	-0.137000	0.14449	GGT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	171	1	0	7.05121e-23	0.010771	1.32162e-22	43	171				
TTN	7273	broad.mit.edu	37	2	179659182	179659182	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179659182G>T	ENST00000591111.1	-	8	1566	c.1342C>A	c.(1342-1344)Cag>Aag	p.Q448K	TTN_ENST00000360870.5_Missense_Mutation_p.Q448K|TTN_ENST00000589042.1_Missense_Mutation_p.Q448K|TTN_ENST00000342175.6_Missense_Mutation_p.Q448K|TTN_ENST00000460472.2_Missense_Mutation_p.Q448K|TTN_ENST00000359218.5_Missense_Mutation_p.Q448K|TTN_ENST00000342992.6_Missense_Mutation_p.Q448K			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCAGTCTGCTCTACAGCG	0.552																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1342-1344)CAG>AAG		titin isoform N2-A							211.0	189.0	196.0					2																	179659182		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659182G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1342C>A	2.37:g.179659182G>T	ENSP00000465570:p.Gln448Lys					TTN_uc010zfh.1_Missense_Mutation_p.Q448K|TTN_uc010zfi.1_Missense_Mutation_p.Q448K|TTN_uc010zfj.1_Missense_Mutation_p.Q448K|TTN_uc002unb.2_Missense_Mutation_p.Q448K|TTN_uc010frg.1_Missense_Mutation_p.Q122K	p.Q448K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		8	1566	-			448					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1342C>A		.	.	.	.	.	.	.	.	.	.	G	14.49	2.552151	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.87	4.95	0.65309	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.38532	0.1044	N	0.19112	0.55	0.22728	N	0.998801	B;B;B;B;P	0.42296	0.201;0.201;0.201;0.201;0.775	B;B;B;B;B	0.41412	0.089;0.089;0.089;0.089;0.356	T	0.37244	-0.9714	9	0.87932	D	0	.	14.7473	0.69499	0.0:0.2625:0.7374:0.0	.	448;448;448;448;448	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	448;448;448;448;448;448;44	ENSP00000343764:Q448K;ENSP00000434586:Q448K;ENSP00000340554:Q448K;ENSP00000352154:Q448K;ENSP00000354117:Q448K;ENSP00000405517:Q44K	ENSP00000340554:Q448K	Q	-	1	0	TTN	179367427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.429000	0.52800	2.780000	0.95670	0.655000	0.94253	CAG		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	101	1	0	4.54149e-19	0.002299	8.28383e-19	21	101				
CCDC141	285025	broad.mit.edu	37	2	179714841	179714841	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:179714841T>A	ENST00000420890.2	-	21	3409	c.3292A>T	c.(3292-3294)Aaa>Taa	p.K1098*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.K523*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1098										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAACCTCTTTGTGTTTTGTC	0.358																																							uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(1567-1569)AAA>TAA		coiled-coil domain containing 141							115.0	113.0	114.0					2																	179714841		2203	4300	6503	SO:0001587	stop_gained	285025						protein binding	g.chr2:179714841T>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3292A>T	2.37:g.179714841T>A	ENSP00000395995:p.Lys1098*						p.K523*	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		11	1624	-			523					H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	37	c.1567A>T		.	.	.	.	.	.	.	.	.	.	T	40	8.403811	0.98796	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	.	.	.	5.73	1.69	0.24217	.	0.308084	0.27349	N	0.019765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1538	9.1891	0.37189	0.0:0.0679:0.2451:0.687	.	.	.	.	X	1098;542;523	.	ENSP00000295723:K523X	K	-	1	0	CCDC141	179423086	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	0.724000	0.25954	0.433000	0.26313	-0.323000	0.08544	AAA		0.358	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		12	32	0	0	0	0.001855	0	12	32				
ITGA4	3676	broad.mit.edu	37	2	182322569	182322569	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:182322569C>T	ENST00000397033.2	+	1	618	c.188C>T	c.(187-189)gCg>gTg	p.A63V	ITGA4_ENST00000339307.4_Missense_Mutation_p.A63V	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	63					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGCCACGGGGCGAACCGATGG	0.627																																							uc002unu.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(187-189)GCG>GTG		integrin alpha 4 precursor	Natalizumab(DB00108)						23.0	27.0	26.0					2																	182322569		2088	4232	6320	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182322569C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.188C>T	2.37:g.182322569C>T	ENSP00000380227:p.Ala63Val					ITGA4_uc002unt.2_Missense_Mutation_p.A63V|ITGA4_uc010zfl.1_Missense_Mutation_p.A63V	p.A63V	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		1	951	+			63			FG-GAP 1.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.188C>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	4.738	0.137158	0.09032	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.71341	1.94;-0.56;-0.56	4.04	-0.454	0.12197	.	2.436950	0.01841	N	0.035334	T	0.55369	0.1916	L	0.34521	1.04	0.09310	N	1	B;P;B	0.34892	0.089;0.474;0.127	B;B;B	0.20577	0.03;0.024;0.03	T	0.45644	-0.9247	10	0.38643	T	0.18	.	6.7815	0.23648	0.4658:0.2565:0.2778:0.0	.	63;63;63	E7EP60;P13612;E7ESG7	.;ITA4_HUMAN;.	V	63	ENSP00000340149:A63V;ENSP00000380227:A63V;ENSP00000233573:A63V	ENSP00000233573:A63V	A	+	2	0	ITGA4	182030814	0.000000	0.05858	0.008000	0.14137	0.087000	0.18053	-0.648000	0.05391	0.038000	0.15604	-1.086000	0.02197	GCG		0.627	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			4	12	0	0	0	0.009096	0	4	12				
NUP35	129401	broad.mit.edu	37	2	184024234	184024234	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:184024234G>A	ENST00000295119.4	+	8	860	c.757G>A	c.(757-759)Gac>Aac	p.D253N	NUP35_ENST00000409798.1_Missense_Mutation_p.D236N|NUP35_ENST00000541912.1_Missense_Mutation_p.D118N	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	253					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GGAAAGCAGTGACAGATGTGC	0.348																																							uc002upf.2		NA																	0					0						c.(757-759)GAC>AAC		nucleoporin 35kDa							124.0	117.0	120.0					2																	184024234		2203	4300	6503	SO:0001583	missense	129401				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		g.chr2:184024234G>A	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.757G>A	2.37:g.184024234G>A	ENSP00000295119:p.Asp253Asn					NUP35_uc010zfs.1_Missense_Mutation_p.D235N|NUP35_uc010zft.1_Missense_Mutation_p.D135N|NUP35_uc002upg.2_RNA	p.D253N	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN			8	860	+			253					B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	ENST00000295119.4	37	c.757G>A	CCDS2290.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257062	0.39896	.	.	ENSG00000163002	ENST00000409798;ENST00000295119;ENST00000541912	.	.	.	5.51	5.51	0.81932	.	0.185609	0.45606	D	0.000353	T	0.48429	0.1499	N	0.19112	0.55	0.47276	D	0.999372	B	0.18461	0.028	B	0.10450	0.005	T	0.39418	-0.9615	9	0.17369	T	0.5	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	253	Q8NFH5	NUP53_HUMAN	N	236;253;118	.	ENSP00000295119:D253N	D	+	1	0	NUP35	183732479	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.550000	0.82173	2.584000	0.87258	0.585000	0.79938	GAC		0.348	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285		11	29	0	0	0	0.001855	0	11	29				
ZNF804A	91752	broad.mit.edu	37	2	185803074	185803074	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:185803074T>C	ENST00000302277.6	+	4	3545	c.2951T>C	c.(2950-2952)aTg>aCg	p.M984T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	984							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAGGAAAGATGAATGAGACA	0.418																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2950-2952)ATG>ACG		zinc finger protein 804A							105.0	100.0	102.0					2																	185803074		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803074T>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2951T>C	2.37:g.185803074T>C	ENSP00000303252:p.Met984Thr						p.M984T	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3545	+			984					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2951T>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	0.129	-1.116052	0.01799	.	.	ENSG00000170396	ENST00000302277	T	0.06528	3.29	5.14	-0.0651	0.13770	.	1.346710	0.04951	N	0.460396	T	0.03783	0.0107	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42949	-0.9421	10	0.08179	T	0.78	0.2636	5.2068	0.15295	0.0:0.2371:0.1412:0.6217	.	984	Q7Z570	Z804A_HUMAN	T	984	ENSP00000303252:M984T	ENSP00000303252:M984T	M	+	2	0	ZNF804A	185511319	0.001000	0.12720	0.061000	0.19648	0.243000	0.25628	0.084000	0.14891	-0.255000	0.09486	0.383000	0.25322	ATG		0.418	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		15	33	0	0	0	0.003163	0	15	33				
ZNF804A	91752	broad.mit.edu	37	2	185803266	185803266	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:185803266C>T	ENST00000302277.6	+	4	3737	c.3143C>T	c.(3142-3144)cCa>cTa	p.P1048L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1048							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAAATGTACCATGTGAGGTC	0.458																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3142-3144)CCA>CTA		zinc finger protein 804A							80.0	75.0	76.0					2																	185803266		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803266C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3143C>T	2.37:g.185803266C>T	ENSP00000303252:p.Pro1048Leu						p.P1048L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3737	+			1048					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3143C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172692	0.38413	.	.	ENSG00000170396	ENST00000302277	T	0.06608	3.28	5.09	4.15	0.48705	.	0.161199	0.29233	N	0.012752	T	0.09423	0.0232	L	0.51422	1.61	0.22185	N	0.999305	D	0.53619	0.961	P	0.44597	0.454	T	0.11348	-1.0591	10	0.72032	D	0.01	-12.3855	13.398	0.60865	0.1578:0.8422:0.0:0.0	.	1048	Q7Z570	Z804A_HUMAN	L	1048	ENSP00000303252:P1048L	ENSP00000303252:P1048L	P	+	2	0	ZNF804A	185511511	0.856000	0.29760	0.125000	0.21846	0.733000	0.41908	1.693000	0.37742	2.354000	0.79902	0.467000	0.42956	CCA		0.458	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		3	50	0	0	0	0.004672	0	3	50				
FAM171B	165215	broad.mit.edu	37	2	187615934	187615934	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:187615934G>C	ENST00000304698.5	+	5	1001	c.798G>C	c.(796-798)aaG>aaC	p.K266N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	266				K -> R (in Ref. 4; AAL57220). {ECO:0000305}.		integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGAACTAAAGGTCAATGGCT	0.353																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(796-798)AAG>AAC		KIAA1946							116.0	125.0	122.0					2																	187615934		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187615934G>C	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.798G>C	2.37:g.187615934G>C	ENSP00000304108:p.Lys266Asn					FAM171B_uc002upr.1_Missense_Mutation_p.K266N	p.K266N	NM_177454	NP_803237	Q6P995	F171B_HUMAN			5	910	+			266	K -> R (in Ref. 4; AAL57220).		Extracellular (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.798G>C	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511983	0.12944	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.32272	1.46	5.53	-2.86	0.05717	.	0.434355	0.29009	N	0.013436	T	0.08313	0.0207	N	0.03115	-0.41	0.38108	D	0.937469	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.19031	-1.0318	10	0.17369	T	0.5	-8.201	1.7928	0.03055	0.4021:0.0853:0.2767:0.2359	.	266;267	Q6P995;A8K122	F171B_HUMAN;.	N	266	ENSP00000304108:K266N	ENSP00000272804:K266N	K	+	3	2	FAM171B	187324179	0.002000	0.14202	0.968000	0.41197	0.718000	0.41266	-1.646000	0.01998	-0.426000	0.07360	-0.921000	0.02739	AAG		0.353	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		10	71	0	0	0	0.006214	0	10	71				
WDR75	84128	broad.mit.edu	37	2	190334125	190334125	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:190334125G>A	ENST00000314761.4	+	16	1839	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	593						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CTAATTCAGAGAATATTGCTG	0.368																																							uc002uql.1		NA																	0				ovary(2)	2						c.(1777-1779)GAG>GAA		WD repeat domain 75							111.0	121.0	118.0					2																	190334125		2203	4300	6503	SO:0001819	synonymous_variant	84128					nucleolus		g.chr2:190334125G>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1779G>A	2.37:g.190334125G>A						WDR75_uc002uqm.1_Silent_p.E529E|WDR75_uc002uqn.1_Silent_p.E371E|WDR75_uc002uqo.1_Silent_p.E371E	p.E593E	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		16	1839	+			593					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	ENST00000314761.4	37	c.1779G>A	CCDS2298.1																																																																																				0.368	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		10	27	0	0	0	0.006214	0	10	27				
ASNSD1	54529	broad.mit.edu	37	2	190535324	190535324	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:190535324C>G	ENST00000260952.4	+	6	2217	c.1804C>G	c.(1804-1806)Cgg>Ggg	p.R602G	ASNSD1_ENST00000607062.1_Missense_Mutation_p.R121G	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	602					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TCTGCCCAAACGGGCCATGCA	0.408																																							uc002uqt.2		NA																	0				ovary(2)|skin(1)	3						c.(1804-1806)CGG>GGG		asparagine synthetase domain containing 1							76.0	76.0	76.0					2																	190535324		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190535324C>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1804C>G	2.37:g.190535324C>G	ENSP00000260952:p.Arg602Gly						p.R602G	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		6	2238	+			602					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.1804C>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787445	0.70337	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.47177	0.85;0.85	5.66	3.68	0.42216	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046655	0.85682	D	0.000000	T	0.62233	0.2411	M	0.70595	2.14	0.58432	D	0.999992	D	0.76494	0.999	D	0.68039	0.955	T	0.65067	-0.6258	10	0.87932	D	0	-6.5625	8.745	0.34580	0.2518:0.6635:0.0:0.0847	.	602	Q9NWL6	ASND1_HUMAN	G	602	ENSP00000260952:R602G;ENSP00000406790:R602G	ENSP00000260952:R602G	R	+	1	2	ASNSD1	190243569	1.000000	0.71417	0.936000	0.37596	0.964000	0.63967	2.842000	0.48230	1.406000	0.46857	0.561000	0.74099	CGG		0.408	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		4	52	0	0	0	0.009096	0	4	52				
C2orf88	84281	broad.mit.edu	37	2	190788068	190788068	+	Intron	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:190788068A>G	ENST00000478197.1	+	1	219							Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88							plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						CACAATGGCCAGCAACGTTAC	0.468																																							uc002uro.2		NA																	0					NA						c.(7-9)AGC>GGC		SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C;																																				SO:0001627	intron_variant	0							g.chr2:190788068A>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000478197.1:c.219+43515A>G	2.37:g.190788068A>G							p.S3G							1	150	+								D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000478197.1	37	c.7A>G																																																																																					0.468	C2orf88-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334952.1	NM_032321		8	39	0	0	0	0.00308	0	8	39				
SDPR	8436	broad.mit.edu	37	2	192701246	192701246	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:192701246C>A	ENST00000304141.4	-	2	1010	c.681G>T	c.(679-681)agG>agT	p.R227S		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTTTCTCTGCCCTACTTTCTT	0.488																																							uc002utb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(679-681)AGG>AGT		serum deprivation response protein	Phosphatidylserine(DB00144)						144.0	149.0	147.0					2																	192701246		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701246C>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.681G>T	2.37:g.192701246C>A	ENSP00000305675:p.Arg227Ser						p.R227S	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1011	-			227			Potential.			Missense_Mutation	SNP	ENST00000304141.4	37	c.681G>T	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151354	0.38021	.	.	ENSG00000168497	ENST00000304141	T	0.68025	-0.3	5.01	1.17	0.20885	.	0.051416	0.85682	D	0.000000	T	0.78521	0.4296	M	0.82823	2.61	0.50467	D	0.999871	D	0.76494	0.999	P	0.62089	0.898	T	0.78321	-0.2249	10	0.87932	D	0	-35.0511	11.1143	0.48252	0.0:0.5689:0.0:0.4311	.	227	O95810	SDPR_HUMAN	S	227	ENSP00000305675:R227S	ENSP00000305675:R227S	R	-	3	2	SDPR	192409491	0.982000	0.34865	0.912000	0.35992	0.008000	0.06430	0.155000	0.16362	-0.154000	0.11118	-1.119000	0.02030	AGG		0.488	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		35	73	1	0	3.67414e-24	0.012213	6.9555e-24	35	73				
HECW2	57520	broad.mit.edu	37	2	197183691	197183691	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:197183691A>T	ENST00000260983.3	-	9	2105	c.1923T>A	c.(1921-1923)gcT>gcA	p.A641A	HECW2_ENST00000409111.1_Silent_p.A285A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAGCTGTCAGCGCATTCCA	0.582																																							uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1921-1923)GCT>GCA		HECT, C2 and WW domain containing E3 ubiquitin							98.0	76.0	83.0					2																	197183691		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183691A>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1923T>A	2.37:g.197183691A>T						HECW2_uc002utl.1_Silent_p.A285A	p.A641A	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	2106	-			641					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1923T>A	CCDS33354.1																																																																																				0.582	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		6	29	0	0	0	0.001168	0	6	29				
PGAP1	80055	broad.mit.edu	37	2	197705997	197705997	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:197705997G>A	ENST00000354764.4	-	27	2844	c.2730C>T	c.(2728-2730)ttC>ttT	p.F910F		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	910					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AAAGAGGAATGAAGACAAAGC	0.378																																							uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2728-2730)TTC>TTT		GPI deacylase							107.0	100.0	103.0					2																	197705997		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197705997G>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2730C>T	2.37:g.197705997G>A						PGAP1_uc002utx.2_Silent_p.F736F|PGAP1_uc010fsi.2_Silent_p.F149F	p.F910F	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			27	2844	-			910			Helical; (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.2730C>T	CCDS2318.1																																																																																				0.378	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		4	43	0	0	0	0.009096	0	4	43				
CASP8	841	broad.mit.edu	37	2	202149719	202149719	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:202149719G>T	ENST00000432109.2	+	9	1172	c.983G>T	c.(982-984)gGa>gTa	p.G328V	CASP8_ENST00000323492.7_Missense_Mutation_p.G313V|CASP8_ENST00000264274.9_Missense_Mutation_p.G244V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.G345V|CASP8_ENST00000358485.4_Missense_Mutation_p.G387V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	328					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGCACTGATGGACAGGAGGCC	0.468										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(982-984)GGA>GTA		caspase 8 isoform B precursor							159.0	136.0	144.0					2																	202149719		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149719G>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.983G>T	2.37:g.202149719G>T	ENSP00000412523:p.Gly328Val	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Missense_Mutation_p.G345V|CASP8_uc002uxq.1_Missense_Mutation_p.G313V|CASP8_uc002uxt.1_Missense_Mutation_p.G387V|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.G313V|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.G244V	p.G328V	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1192	+			328					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.983G>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554870	0.65425	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.049345	0.85682	D	0.000000	T	0.74412	0.3713	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.994;0.998;0.999	T	0.78109	-0.2332	10	0.87932	D	0	.	13.0391	0.58889	0.0736:0.0:0.9264:0.0	.	244;387;328;313;345	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	V	313;244;328;345;387;313;107	ENSP00000376091:G313V;ENSP00000264274:G244V;ENSP00000412523:G328V;ENSP00000264275:G345V;ENSP00000351273:G387V;ENSP00000325722:G313V;ENSP00000394434:G107V	ENSP00000264274:G244V	G	+	2	0	CASP8	201857964	1.000000	0.71417	0.997000	0.53966	0.317000	0.28152	6.814000	0.75236	2.687000	0.91594	0.561000	0.74099	GGA		0.468	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		38	91	1	0	1.03484e-13	0.005524	1.73152e-13	38	91				
PIKFYVE	200576	broad.mit.edu	37	2	209195317	209195317	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:209195317G>T	ENST00000264380.4	+	23	4020	c.3862G>T	c.(3862-3864)Ggc>Tgc	p.G1288C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1288					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTTTGTTCATGGCCAAGGCTG	0.438																																							uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3862-3864)GGC>TGC		phosphatidylinositol-3-phosphate 5-kinase type							275.0	270.0	271.0					2																	209195317		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209195317G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3862G>T	2.37:g.209195317G>T	ENSP00000264380:p.Gly1288Cys					PIKFYVE_uc002vcy.1_Missense_Mutation_p.G1232C	p.G1288C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			23	4020	+			1288					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3862G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922010	0.92319	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.42900	0.96;0.96	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.68176	-0.5478	10	0.52906	T	0.07	-15.6628	19.861	0.96785	0.0:0.0:1.0:0.0	.	1288;1232	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	1288;864;1232	ENSP00000264380:G1288C;ENSP00000405736:G1232C	ENSP00000264380:G1288C	G	+	1	0	PIKFYVE	208903562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.767000	0.95098	0.655000	0.94253	GGC		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		28	156	1	0	3.65163e-15	0.00632	6.36694e-15	28	156				
PTH2R	5746	broad.mit.edu	37	2	209302551	209302551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:209302551G>A	ENST00000272847.2	+	4	569	c.356G>A	c.(355-357)tGg>tAg	p.W119*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	119					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	AATAAAACATGGGCCAATTAT	0.413																																							uc002vdb.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(355-357)TGG>TAG		parathyroid hormone 2 receptor precursor							95.0	92.0	93.0					2																	209302551		2203	4300	6503	SO:0001587	stop_gained	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302551G>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.356G>A	2.37:g.209302551G>A	ENSP00000272847:p.Trp119*					PTH2R_uc010zjb.1_Nonsense_Mutation_p.W130*	p.W119*	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	4	569	+			119			Extracellular (Potential).		Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	37	c.356G>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368672	0.95900	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.13	4.26	0.50523	.	0.300460	0.23766	N	0.044771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1158	0.25416	0.0884:0.0:0.7431:0.1685	.	.	.	.	X	119	.	ENSP00000272847:W119X	W	+	2	0	PTH2R	209010796	1.000000	0.71417	0.984000	0.44739	0.692000	0.40212	5.552000	0.67281	1.301000	0.44836	-0.444000	0.05651	TGG		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		12	31	0	0	0	0.010729	0	12	31				
ABCA12	26154	broad.mit.edu	37	2	215838689	215838689	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:215838689C>T	ENST00000272895.7	-	36	5765	c.5546G>A	c.(5545-5547)tGc>tAc	p.C1849Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.C1531Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1849					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTTCTGAGCAGGAGCAAAC	0.378																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(5545-5547)TGC>TAC		ATP-binding cassette, sub-family A, member 12							170.0	156.0	161.0					2																	215838689		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215838689C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5546G>A	2.37:g.215838689C>T	ENSP00000272895:p.Cys1849Tyr					ABCA12_uc002vev.2_Missense_Mutation_p.C1531Y|ABCA12_uc010zjn.1_Missense_Mutation_p.C776Y	p.C1849Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	36	5766	-		Renal(323;0.127)	1849					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.5546G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852309	0.71719	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.96334	-3.98;-3.88	5.89	5.89	0.94794	.	0.809957	0.11697	N	0.538340	D	0.98451	0.9484	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.999;0.981	D;P	0.71184	0.972;0.788	D	0.98166	1.0449	10	0.87932	D	0	.	18.4332	0.90634	0.0:1.0:0.0:0.0	.	1849;1531	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1849;1531	ENSP00000272895:C1849Y;ENSP00000374312:C1531Y	ENSP00000272895:C1849Y	C	-	2	0	ABCA12	215546934	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.927000	0.63440	2.788000	0.95919	0.557000	0.71058	TGC		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		15	29	0	0	0	0.003163	0	15	29				
AAMP	14	broad.mit.edu	37	2	219130619	219130619	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:219130619C>T	ENST00000248450.4	-	7	984	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	AAMP_ENST00000444053.1_Missense_Mutation_p.G273S|AAMP_ENST00000420660.1_Missense_Mutation_p.G253S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	272					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCAAGCTGCCATCCTGGTTG	0.637																																							uc002vhk.2		NA																	0				ovary(1)	1						c.(814-816)GGC>AGC		angio-associated, migratory cell protein							39.0	37.0	38.0					2																	219130619		2203	4300	6503	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219130619C>T	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.814G>A	2.37:g.219130619C>T	ENSP00000248450:p.Gly272Ser					AAMP_uc002vhj.2_Missense_Mutation_p.G253S|AAMP_uc010fvo.2_Missense_Mutation_p.G272S|AAMP_uc002vhl.2_Missense_Mutation_p.G273S	p.G272S	NM_001087	NP_001078	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	898	-		Renal(207;0.0474)	272			WD 5.		Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.814G>A	CCDS33378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.918995|4.918995	0.92249|0.92249	.|.	.|.	ENSG00000127837|ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660|ENST00000422731	T;T;T|.	0.23552|.	1.9;1.9;1.9|.	5.69|5.69	5.69|5.69	0.88448|0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.047710|.	0.85682|.	D|.	0.000000|.	T|T	0.66147|0.66147	0.2760|0.2760	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	D;P;D|.	0.61080|.	0.989;0.659;0.989|.	P;B;P|.	0.62435|.	0.9;0.333;0.902|.	T|T	0.59952|0.59952	-0.7357|-0.7357	10|5	0.44086|.	T|.	0.13|.	-24.6284|-24.6284	19.8215|19.8215	0.96599|0.96599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;272;253|.	C9JEH3;Q13685;C9JG97|.	.;AAMP_HUMAN;.|.	S|I	272;273;253|26	ENSP00000248450:G272S;ENSP00000403343:G273S;ENSP00000416394:G253S|.	ENSP00000248450:G272S|.	G|M	-|-	1|3	0|0	AAMP|AAMP	218838863|218838863	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.975000|0.975000	0.68041|0.68041	7.655000|7.655000	0.83696|0.83696	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GGC|ATG		0.637	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		4	17	0	0	0	0.009096	0	4	17				
IHH	3549	broad.mit.edu	37	2	219920022	219920022	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:219920022C>A	ENST00000295731.6	-	3	1142	c.1143G>T	c.(1141-1143)gtG>gtT	p.V381V		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	381					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTACCAATGCACACCCTCCC	0.652																																							uc002vjo.1		NA																	0				breast(1)	1						c.(1141-1143)GTG>GTT		Indian hedgehog homolog precursor							23.0	25.0	24.0					2																	219920022		2203	4300	6503	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920022C>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.1143G>T	2.37:g.219920022C>A							p.V381V	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1143	-		Renal(207;0.0915)	381					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.1143G>T	CCDS33380.1																																																																																				0.652	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		8	11	1	0	1.12685e-05	0.004482	1.40753e-05	8	11				
SPEG	10290	broad.mit.edu	37	2	220353835	220353835	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:220353835C>A	ENST00000312358.7	+	35	8341	c.8209C>A	c.(8209-8211)Cac>Aac	p.H2737N	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2737	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAACGTGACCCACCTGCCAGT	0.607																																							uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8209-8211)CAC>AAC		SPEG complex locus							97.0	104.0	102.0					2																	220353835		2124	4233	6357	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220353835C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8209C>A	2.37:g.220353835C>A	ENSP00000311684:p.His2737Asn						p.H2737N	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	35	8209	+		Renal(207;0.0183)	2737			Fibronectin type-III 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8209C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	5.647	0.304087	0.10678	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.47177	0.85	4.25	3.34	0.38264	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.401217	0.18385	N	0.142834	T	0.18215	0.0437	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05053	-1.0909	10	0.13108	T	0.6	.	7.8412	0.29400	0.144:0.5077:0.3484:0.0	.	2737	Q15772	SPEG_HUMAN	N	2737	ENSP00000311684:H2737N	ENSP00000265327:H2737N	H	+	1	0	SPEG	220062079	1.000000	0.71417	0.991000	0.47740	0.520000	0.34377	4.528000	0.60580	0.961000	0.38030	0.462000	0.41574	CAC		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		22	83	1	0	2.70639e-06	0.002299	3.50676e-06	22	83				
ASIC4	55515	broad.mit.edu	37	2	220399896	220399896	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:220399896C>G	ENST00000347842.3	+	5	1417	c.1403C>G	c.(1402-1404)tCc>tGc	p.S468C	ASIC4_ENST00000358078.4_Missense_Mutation_p.S487C	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	468					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GTTGCAGACTCCCTGGGTGGG	0.647																																							uc002vma.2		NA																	0				ovary(2)	2						c.(1402-1404)TCC>TGC		amiloride-sensitive cation channel 4 isoform 2							40.0	44.0	42.0					2																	220399896		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220399896C>G	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1403C>G	2.37:g.220399896C>G	ENSP00000326627:p.Ser468Cys					ACCN4_uc002vlz.2_Missense_Mutation_p.S487C|ACCN4_uc002vmb.2_Missense_Mutation_p.S141C	p.S468C	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	5	1417	+		Renal(207;0.0183)	468			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1403C>G	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831019	0.50845	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.64618	-0.11;-0.1	4.67	4.67	0.58626	.	1.023930	0.07721	N	0.943614	T	0.67720	0.2923	L	0.33093	0.98	0.09310	N	0.999991	D;D	0.64830	0.994;0.992	P;P	0.58520	0.84;0.753	T	0.58177	-0.7682	10	0.39692	T	0.17	-25.9132	13.1703	0.59593	0.1595:0.8405:0.0:0.0	.	468;487	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	C	468;487	ENSP00000326627:S468C;ENSP00000350786:S487C	ENSP00000326627:S468C	S	+	2	0	ACCN4	220108140	0.011000	0.17503	1.000000	0.80357	0.988000	0.76386	1.707000	0.37888	2.602000	0.87976	0.650000	0.86243	TCC		0.647	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		16	44	0	0	0	0.007413	0	16	44				
INHA	3623	broad.mit.edu	37	2	220439701	220439701	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:220439701C>G	ENST00000243786.2	+	2	734	c.554C>G	c.(553-555)gCt>gGt	p.A185G	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	185					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCACCTCTGCTCTCTCTCTG	0.687																																							uc002vmk.1		NA																	0				ovary(1)	1						c.(553-555)GCT>GGT		inhibin alpha subunit precursor							86.0	80.0	82.0					2																	220439701		2203	4300	6503	SO:0001583	missense	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439701C>G		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.554C>G	2.37:g.220439701C>G	ENSP00000243786:p.Ala185Gly						p.A185G	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	698	+		Renal(207;0.0183)	185					A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	c.554C>G	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	C	9.457	1.092087	0.20471	.	.	ENSG00000123999	ENST00000243786	D	0.85556	-2.0	5.37	5.37	0.77165	.	0.488362	0.22115	N	0.064422	D	0.85665	0.5749	M	0.85099	2.735	0.23585	N	0.997356	P	0.40144	0.704	B	0.36719	0.231	T	0.82559	-0.0397	10	0.59425	D	0.04	-16.9786	12.4478	0.55662	0.0:0.9234:0.0:0.0766	.	185	P05111	INHA_HUMAN	G	185	ENSP00000243786:A185G	ENSP00000243786:A185G	A	+	2	0	INHA	220147945	0.105000	0.21958	0.647000	0.29507	0.033000	0.12548	1.626000	0.37039	2.504000	0.84457	0.561000	0.74099	GCT		0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			16	49	0	0	0	0.006122	0	16	49				
EPHA4	2043	broad.mit.edu	37	2	222301814	222301814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:222301814G>T	ENST00000281821.2	-	12	2144	c.2103C>A	c.(2101-2103)taC>taA	p.Y701*	EPHA4_ENST00000392071.4_Nonsense_Mutation_p.Y650*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.Y701*|EPHA4_ENST00000409938.1_Nonsense_Mutation_p.Y701*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	701	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATTCTCCATGTACTCTGTTA	0.388																																							uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2101-2103)TAC>TAA		ephrin receptor EphA4 precursor							113.0	114.0	114.0					2																	222301814		2203	4300	6503	SO:0001587	stop_gained	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301814G>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2103C>A	2.37:g.222301814G>T	ENSP00000281821:p.Tyr701*					EPHA4_uc002vmr.2_Nonsense_Mutation_p.Y701*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.Y642*|EPHA4_uc010zln.1_Nonsense_Mutation_p.Y701*	p.Y701*	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	12	2145	-		Renal(207;0.0183)	701			Protein kinase.|Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Nonsense_Mutation	SNP	ENST00000281821.2	37	c.2103C>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	39	7.506723	0.98325	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	.	.	.	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5527	0.56236	0.1346:0.0:0.8654:0.0	.	.	.	.	X	701;701;701;650	.	ENSP00000281821:Y701X	Y	-	3	2	EPHA4	222010058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.757000	0.74924	1.528000	0.49103	0.655000	0.94253	TAC		0.388	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			10	42	1	0	1.58986e-06	0.008291	2.08065e-06	10	42				
EPHA4	2043	broad.mit.edu	37	2	222429103	222429103	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:222429103C>A	ENST00000281821.2	-	3	212	c.171G>T	c.(169-171)gtG>gtT	p.V57V	EPHA4_ENST00000392071.4_Silent_p.V6V|EPHA4_ENST00000409854.1_Silent_p.V57V|EPHA4_ENST00000409938.1_Silent_p.V57V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	57	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCATGATACTCACTTCCTCCC	0.418																																							uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(169-171)GTG>GTT		ephrin receptor EphA4 precursor							109.0	106.0	107.0					2																	222429103		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222429103C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.171G>T	2.37:g.222429103C>A						EPHA4_uc002vmr.2_Silent_p.V57V|EPHA4_uc010zlm.1_5'UTR|EPHA4_uc010zln.1_Silent_p.V57V	p.V57V	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	213	-		Renal(207;0.0183)	57			Extracellular (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.171G>T	CCDS2447.1																																																																																				0.418	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			4	72	1	0	1.23904e-05	0.000602	1.53974e-05	4	72				
COL4A4	1286	broad.mit.edu	37	2	227886798	227886798	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:227886798C>T	ENST00000396625.3	-	44	4389	c.4182G>A	c.(4180-4182)atG>atA	p.M1394I	COL4A4_ENST00000329662.7_Missense_Mutation_p.M1391I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1394	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGGAGCCCCATGGCTCCTT	0.527																																							uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(4180-4182)ATG>ATA		alpha 4 type IV collagen precursor							120.0	127.0	125.0					2																	227886798		1880	4106	5986	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886798C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4182G>A	2.37:g.227886798C>T	ENSP00000379866:p.Met1394Ile						p.M1394I	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	43	4836	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1394			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4182G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060892	0.36373	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93426	-3.22;-3.22	5.51	5.51	0.81932	.	.	.	.	.	D	0.84005	0.5377	N	0.03608	-0.345	0.37911	D	0.93135	B	0.25667	0.131	B	0.18871	0.023	T	0.82176	-0.0587	9	0.35671	T	0.21	.	15.2632	0.73640	0.0:1.0:0.0:0.0	.	1394	P53420	CO4A4_HUMAN	I	1394;1391	ENSP00000379866:M1394I;ENSP00000328553:M1391I	ENSP00000328553:M1391I	M	-	3	0	COL4A4	227595042	0.257000	0.24022	1.000000	0.80357	0.833000	0.47200	0.367000	0.20382	2.743000	0.94032	0.561000	0.74099	ATG		0.527	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		44	158	0	0	0	0.010771	0	44	158				
SPHKAP	80309	broad.mit.edu	37	2	228881338	228881338	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:228881338G>C	ENST00000392056.3	-	7	4278	c.4232C>G	c.(4231-4233)cCt>cGt	p.P1411R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1411R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1411						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATTGGTACAGGGTCCTGGCA	0.453																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(4231-4233)CCT>CGT		sphingosine kinase type 1-interacting protein							88.0	93.0	91.0					2																	228881338		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881338G>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4232C>G	2.37:g.228881338G>C	ENSP00000375909:p.Pro1411Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.P1411R|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1411R	p.P1411R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4279	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1411					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4232C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	4.177	0.031412	0.08101	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11277	2.79;2.79	5.42	1.52	0.23074	.	0.775955	0.12779	N	0.439807	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41052	-0.9530	10	0.32370	T	0.25	.	8.2296	0.31590	0.1498:0.4289:0.4213:0.0	.	442;1411;1411	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	R	1411	ENSP00000375909:P1411R;ENSP00000339886:P1411R	ENSP00000339886:P1411R	P	-	2	0	SPHKAP	228589582	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.836000	0.27545	0.229000	0.21039	0.655000	0.94253	CCT		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		13	69	0	0	0	0.001368	0	13	69				
TRPM8	79054	broad.mit.edu	37	2	234879034	234879034	+	Silent	SNP	G	G	T	rs139854519	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:234879034G>T	ENST00000324695.4	+	17	2359	c.2319G>T	c.(2317-2319)tcG>tcT	p.S773S	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	773					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTGTACTCGCTGGTCTTTG	0.562																																							uc002vvh.2		NA																	0				skin(4)	4						c.(2317-2319)TCG>TCT		transient receptor potential cation channel,	Menthol(DB00825)						211.0	214.0	213.0					2																	234879034		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234879034G>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2319G>T	2.37:g.234879034G>T						TRPM8_uc010fyj.2_Intron	p.S773S	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2359	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	773			Helical; Name=3; (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2319G>T	CCDS33407.1																																																																																				0.562	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		24	133	1	0	3.6726e-16	0.003954	6.46317e-16	24	133				
ACKR3	57007	broad.mit.edu	37	2	237489920	237489920	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:237489920C>T	ENST00000272928.3	+	2	1122	c.812C>T	c.(811-813)gCg>gTg	p.A271V		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	271					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										TACCACGTGGCGGTGCTGCTG	0.607																																							uc010fyq.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(811-813)GCG>GTG		chemokine orphan receptor 1							169.0	142.0	151.0					2																	237489920		2203	4300	6503	SO:0001583	missense	57007				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:237489920C>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.812C>T	2.37:g.237489920C>T	ENSP00000272928:p.Ala271Val					CXCR7_uc002vwd.2_Missense_Mutation_p.A271V	p.A271V	NM_020311	NP_064707	P25106	CXCR7_HUMAN		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)	3	1042	+		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)	271			Helical; Name=6; (Potential).		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.812C>T	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	2.279	-0.365164	0.05103	.	.	ENSG00000144476	ENST00000272928	T	0.70282	-0.47	5.52	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.200618	0.42682	N	0.000663	T	0.35941	0.0949	N	0.01152	-0.98	0.22639	N	0.998903	B	0.02656	0.0	B	0.04013	0.001	T	0.24584	-1.0156	9	.	.	.	.	7.3002	0.26415	0.0:0.3543:0.0:0.6457	.	271	P25106	CXCR7_HUMAN	V	271	ENSP00000272928:A271V	.	A	+	2	0	CXCR7	237154659	1.000000	0.71417	0.901000	0.35422	0.922000	0.55478	3.040000	0.49799	0.430000	0.26230	0.655000	0.94253	GCG		0.607	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		16	77	0	0	0	0.003163	0	16	77				
COL6A3	1293	broad.mit.edu	37	2	238277749	238277749	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:238277749C>A	ENST00000295550.4	-	10	4809	c.4357G>T	c.(4357-4359)Gca>Tca	p.A1453S	COL6A3_ENST00000347401.3_Missense_Mutation_p.A1252S|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1247S|COL6A3_ENST00000472056.1_Missense_Mutation_p.A846S|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1247S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1253S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1453	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGAATATGTGCAAAGCCATCT	0.468																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4357-4359)GCA>TCA		alpha 3 type VI collagen isoform 1 precursor							65.0	61.0	62.0					2																	238277749		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277749C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4357G>T	2.37:g.238277749C>A	ENSP00000295550:p.Ala1453Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.A1247S|COL6A3_uc010znj.1_Missense_Mutation_p.A846S	p.A1453S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4642	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1453			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4357G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813520	0.32053	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.14	4.26	0.50523	von Willebrand factor, type A (3);	0.236236	0.29205	N	0.012839	D	0.84804	0.5553	L	0.37897	1.145	0.54753	D	0.999989	D;D;P	0.63880	0.993;0.991;0.928	D;D;P	0.69307	0.963;0.937;0.657	T	0.80197	-0.1482	10	0.10377	T	0.69	.	15.7947	0.78401	0.0:0.8638:0.1362:0.0	.	846;1247;1453	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	1453;1252;1247;846;1247;1253	ENSP00000295550:A1453S;ENSP00000315609:A1252S;ENSP00000315873:A1247S;ENSP00000418285:A846S;ENSP00000386844:A1247S;ENSP00000295546:A1253S	ENSP00000295550:A1453S	A	-	1	0	COL6A3	237942488	0.999000	0.42202	0.007000	0.13788	0.001000	0.01503	4.522000	0.60539	1.140000	0.42260	0.650000	0.86243	GCA		0.468	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		12	11	1	0	1.5842e-08	0.001855	2.2862e-08	12	11				
PER2	8864	broad.mit.edu	37	2	239161571	239161571	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:239161571C>T	ENST00000254657.3	-	19	3372	c.3093G>A	c.(3091-3093)caG>caA	p.Q1031Q	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1031	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCGCCTTCGGCTGCTGGTCCC	0.617																																							uc002vyc.2		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(3091-3093)CAG>CAA		period 2							83.0	93.0	89.0					2																	239161571		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161571C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3093G>A	2.37:g.239161571C>T						PER2_uc010znv.1_Silent_p.Q1031Q	p.Q1031Q	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3330	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1031					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.3093G>A	CCDS2528.1																																																																																				0.617	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		8	83	0	0	0	0.00308	0	8	83				
PDYN	5173	broad.mit.edu	37	20	1961312	1961312	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:1961312G>T	ENST00000217305.2	-	4	647	c.422C>A	c.(421-423)gCa>gAa	p.A141E	PDYN_ENST00000540134.1_Missense_Mutation_p.A141E|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.A141E	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	141					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A141V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAGACTCTGCTCCCTCCCT	0.547																																							uc010gaj.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(421-423)GCA>GAA		beta-neoendorphin-dynorphin preproprotein							116.0	109.0	111.0					20																	1961312		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961312G>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.422C>A	20.37:g.1961312G>T	ENSP00000217305:p.Ala141Glu					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.A141E|PDYN_uc010zpt.1_Intron	p.A141E	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	664	-			141					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.422C>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	0.708	-0.788336	0.02884	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80393	-1.37;-1.37;-1.37	4.71	-3.95	0.04118	.	1.069720	0.07158	N	0.850281	T	0.54615	0.1869	N	0.20685	0.6	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.50233	-0.8852	10	0.02654	T	1	8.4254	0.1935	0.00137	0.3113:0.2496:0.2033:0.2357	.	141	P01213	PDYN_HUMAN	E	141	ENSP00000440185:A141E;ENSP00000442259:A141E;ENSP00000217305:A141E	ENSP00000217305:A141E	A	-	2	0	PDYN	1909312	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.225000	0.09151	-1.008000	0.03404	0.491000	0.48974	GCA		0.547	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			14	41	1	0	3.27435e-08	0.00245	4.64253e-08	14	41				
STK35	140901	broad.mit.edu	37	20	2083825	2083825	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:2083825G>A	ENST00000381482.3	+	2	977	c.706G>A	c.(706-708)Gac>Aac	p.D236N	STK35_ENST00000400064.3_Missense_Mutation_p.D64N|STK35_ENST00000246032.3_Missense_Mutation_p.D103N			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GATCCGCTGCGACGCCCCCGA	0.682																																							uc010gak.2		NA																	0				ovary(1)	1						c.(706-708)GAC>AAC		serine/threonine kinase 35							14.0	16.0	15.0					20																	2083825		2196	4296	6492	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2083825G>A	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.706G>A	20.37:g.2083825G>A	ENSP00000370891:p.Asp236Asn					STK35_uc010zpu.1_Missense_Mutation_p.D103N|STK35_uc002wfw.3_Missense_Mutation_p.D103N	p.D236N	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			2	706	+			236			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.706G>A	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292742	0.59976	.	.	ENSG00000125834	ENST00000381482;ENST00000246032;ENST00000400064	T;T;T	0.65916	-0.18;-0.18;-0.18	4.01	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	N	0.17564	0.495	0.43246	D	0.995163	D;P	0.89917	1.0;0.68	D;B	0.85130	0.997;0.121	T	0.51585	-0.8687	10	0.14656	T	0.56	-21.4532	10.0372	0.42135	0.0:0.205:0.795:0.0	.	64;236	B4DYV9;Q8TDR2	.;STK35_HUMAN	N	236;103;64	ENSP00000370891:D236N;ENSP00000246032:D103N;ENSP00000382937:D64N	ENSP00000246032:D103N	D	+	1	0	STK35	2031825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.714000	0.25808	2.530000	0.85305	0.655000	0.94253	GAC		0.682	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		5	8	0	0	0	0.000602	0	5	8				
VPS16	64601	broad.mit.edu	37	20	2846072	2846072	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:2846072G>T	ENST00000380445.3	+	22	2274	c.2202G>T	c.(2200-2202)ctG>ctT	p.L734L	PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Silent_p.L420L|VPS16_ENST00000380469.3_Silent_p.L590L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	734					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGACTGCCCTGGCAGATTTGG	0.587																																							uc002whe.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2200-2202)CTG>CTT		vacuolar protein sorting 16 isoform 1							52.0	48.0	49.0					20																	2846072		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2846072G>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2202G>T	20.37:g.2846072G>T						VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Silent_p.L590L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Silent_p.L420L|VPS16_uc002whi.2_Silent_p.L218L	p.L734L	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			22	2250	+			734					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.2202G>T	CCDS13036.1																																																																																				0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		4	19	1	0	0.000602214	0.000602	0.000676645	4	19				
C20orf194	25943	broad.mit.edu	37	20	3299041	3299041	+	Missense_Mutation	SNP	T	T	A	rs374988917		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:3299041T>A	ENST00000252032.9	-	17	1430	c.1363A>T	c.(1363-1365)Atg>Ttg	p.M455L	C20orf194_ENST00000453730.2_Missense_Mutation_p.M193L|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	455										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAGACGGCCATACAAGCCTGC	0.403																																							uc002wii.2		NA																	0					0						c.(1363-1365)ATG>TTG		hypothetical protein LOC25943							61.0	61.0	61.0					20																	3299041		1893	4115	6008	SO:0001583	missense	25943							g.chr20:3299041T>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1363A>T	20.37:g.3299041T>A	ENSP00000252032:p.Met455Leu					C20orf194_uc002wij.3_Missense_Mutation_p.M194L|C20orf194_uc002wik.2_Missense_Mutation_p.M129L	p.M455L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			17	1414	-			455					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.1363A>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.043268	0.55003	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.42900	0.96;0.96	5.47	5.47	0.80525	.	0.040310	0.85682	D	0.000000	T	0.53142	0.1778	L	0.55103	1.725	0.53688	D	0.999979	P;P	0.44090	0.826;0.826	P;P	0.57009	0.811;0.811	T	0.42949	-0.9421	10	0.15499	T	0.54	.	14.8394	0.70212	0.0:0.0:0.0:1.0	.	194;455	Q0IIP3;Q5TEA3	.;CT194_HUMAN	L	455;193	ENSP00000252032:M455L;ENSP00000407229:M193L	ENSP00000252032:M455L	M	-	1	0	C20orf194	3247041	0.998000	0.40836	0.959000	0.39883	0.551000	0.35334	3.113000	0.50376	2.201000	0.70794	0.528000	0.53228	ATG		0.403	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		12	23	0	0	0	0.001368	0	12	23				
SIGLEC1	6614	broad.mit.edu	37	20	3687105	3687105	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:3687105G>T	ENST00000344754.4	-	2	297	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L100M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	100	Ig-like V-type.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TTCAGCAGCAGGTTGCACACC	0.637																																							uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(298-300)CTG>ATG		sialoadhesin precursor							65.0	65.0	65.0					20																	3687105		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3687105G>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.298C>A	20.37:g.3687105G>T	ENSP00000341141:p.Leu100Met					SIGLEC1_uc002wiz.3_Missense_Mutation_p.L100M|SIGLEC1_uc002wjc.2_Missense_Mutation_p.L11M	p.L100M	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			2	298	-			100			Ig-like V-type.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.298C>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822680	0.50739	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.58652	0.32;0.32	5.31	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.31612	N	0.007348	T	0.75057	0.3798	M	0.84326	2.69	0.36640	D	0.876815	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.81136	-0.1070	10	0.72032	D	0.01	.	9.71	0.40240	0.0958:0.0:0.9042:0.0	.	100;100;100	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	M	100	ENSP00000341141:L100M;ENSP00000202578:L100M	ENSP00000202578:L100M	L	-	1	2	SIGLEC1	3635105	1.000000	0.71417	0.998000	0.56505	0.334000	0.28698	1.685000	0.37659	1.247000	0.43917	0.563000	0.77884	CTG		0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		12	44	1	0	5.50884e-06	0.001368	6.94735e-06	12	44				
LAMP5	24141	broad.mit.edu	37	20	9498814	9498814	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:9498814G>A	ENST00000246070.2	+	5	1095	c.603G>A	c.(601-603)atG>atA	p.M201I	LAMP5_ENST00000427562.2_Missense_Mutation_p.M157I	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	201						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.M201fs*33(1)									CGGTCACCATGATCCTGTCTG	0.498																																							uc002wni.1		NA																	1	Deletion - Frameshift(1)	p.M201fs*33(1)	breast(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(601-603)ATG>ATA		chromosome 20 open reading frame 103 precursor							136.0	111.0	120.0					20																	9498814		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498814G>A	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.603G>A	20.37:g.9498814G>A	ENSP00000246070:p.Met201Ile					C20orf103_uc010zrc.1_Missense_Mutation_p.M157I	p.M201I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	832	+			201			Extracellular (Potential).		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.603G>A	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736171	0.30774	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.24908	1.83;1.83	5.84	5.84	0.93424	.	0.274240	0.45606	D	0.000349	T	0.14485	0.0350	N	0.08118	0	0.45129	D	0.998146	B;B	0.13594	0.008;0.002	B;B	0.13407	0.003;0.009	T	0.15723	-1.0427	9	.	.	.	-33.0281	15.8954	0.79329	0.0:0.1722:0.8278:0.0	.	157;201	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	I	201;157	ENSP00000246070:M201I;ENSP00000406360:M157I	.	M	+	3	0	C20orf103	9446814	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.821000	0.39041	2.779000	0.95612	0.655000	0.94253	ATG		0.498	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		8	32	0	0	0	0.00308	0	8	32				
PAK7	57144	broad.mit.edu	37	20	9546846	9546846	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:9546846C>A	ENST00000378429.3	-	6	1722	c.1176G>T	c.(1174-1176)tcG>tcT	p.S392S	PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	392	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S392S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGATGTACTGCGAACTGCTCT	0.597																																							uc002wnl.2		NA																	1	Substitution - coding silent(1)	p.S392S(1)	lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1174-1176)TCG>TCT		p21-activated kinase 7							133.0	127.0	129.0					20																	9546846		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546846C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1176G>T	20.37:g.9546846C>A						PAK7_uc002wnk.2_Silent_p.S392S|PAK7_uc002wnj.2_Silent_p.S392S|PAK7_uc010gby.1_Silent_p.S392S	p.S392S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1721	-			392			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1176G>T	CCDS13107.1																																																																																				0.597	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			17	51	1	0	2.23348e-06	0.004007	2.90285e-06	17	51				
SSTR4	6754	broad.mit.edu	37	20	23016573	23016573	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:23016573T>A	ENST00000255008.3	+	1	517	c.453T>A	c.(451-453)ccT>ccA	p.P151P	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	151					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGTGCACCCTCTGCGCGCGG	0.667																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(451-453)CCT>CCA		somatostatin receptor 4							57.0	60.0	59.0					20																	23016573		2202	4296	6498	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016573T>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.453T>A	20.37:g.23016573T>A							p.P151P	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	517	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		151			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.453T>A	CCDS42856.1																																																																																				0.667	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			14	49	0	0	0	0.004007	0	14	49				
CST11	140880	broad.mit.edu	37	20	23433353	23433353	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:23433353T>A	ENST00000377009.3	-	1	129	c.96A>T	c.(94-96)ctA>ctT	p.L32L	CST11_ENST00000377007.3_Silent_p.L32L	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	32					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CATGGACGCTTAGAAAGGTTT	0.498																																							uc002wtf.1		NA																	0					0						c.(94-96)CTA>CTT		cystatin 11 isoform 1 precursor							146.0	127.0	134.0					20																	23433353		2203	4300	6503	SO:0001819	synonymous_variant	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433353T>A	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.96A>T	20.37:g.23433353T>A						CST11_uc002wtg.1_Silent_p.L32L	p.L32L	NM_130794	NP_570612	Q9H112	CST11_HUMAN			1	130	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		32					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	37	c.96A>T	CCDS13155.1																																																																																				0.498	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		23	74	0	0	0	0.00333	0	23	74				
SYNDIG1	79953	broad.mit.edu	37	20	24524197	24524197	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:24524197A>G	ENST00000376862.3	+	2	1097	c.464A>G	c.(463-465)gAg>gGg	p.E155G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GAGGAGGAGGAGTTCCAGGAG	0.527																																							uc002wtw.1		NA																	0					0						c.(463-465)GAG>GGG		transmembrane protein 90B							80.0	86.0	84.0					20																	24524197		2202	4300	6502	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524197A>G	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.464A>G	20.37:g.24524197A>G	ENSP00000366058:p.Glu155Gly						p.E155G	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	1097	+			155			Poly-Glu.|Cytoplasmic (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.464A>G	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042476	0.35989	.	.	ENSG00000101463	ENST00000376862	D	0.91740	-2.9	5.48	4.38	0.52667	.	0.387376	0.25475	N	0.030411	D	0.87370	0.6160	L	0.44542	1.39	0.37673	D	0.92319	B	0.23058	0.079	B	0.16289	0.015	D	0.84139	0.0416	10	0.51188	T	0.08	-16.4001	9.4056	0.38460	0.9151:0.0:0.0849:0.0	.	155	Q9H7V2	SYNG1_HUMAN	G	155	ENSP00000366058:E155G	ENSP00000366058:E155G	E	+	2	0	SYNDIG1	24472197	1.000000	0.71417	0.991000	0.47740	0.710000	0.40934	6.204000	0.72143	0.917000	0.36895	0.533000	0.62120	GAG		0.527	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		10	115	0	0	0	0.007413	0	10	115				
NANP	140838	broad.mit.edu	37	20	25596977	25596977	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:25596977C>A	ENST00000304788.3	-	2	557	c.331G>T	c.(331-333)Gca>Tca	p.A111S		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	111					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						ACGTCTTCTGCTAGTGTCATA	0.443																																							uc002wuy.2		NA																	0					0						c.(331-333)GCA>TCA		N-acetylneuraminic acid phosphatase							112.0	111.0	111.0					20																	25596977		2203	4300	6503	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25596977C>A	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.331G>T	20.37:g.25596977C>A	ENSP00000302441:p.Ala111Ser						p.A111S	NM_152667	NP_689880	Q8TBE9	NANP_HUMAN			2	395	-			111					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.331G>T	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	C	5.277	0.236520	0.10023	.	.	ENSG00000170191	ENST00000304788	T	0.05382	3.45	5.4	2.07	0.26955	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.297530	0.38058	N	0.001823	T	0.02193	0.0068	N	0.03294	-0.36	0.25481	N	0.987735	B	0.06786	0.001	B	0.12837	0.008	T	0.43829	-0.9367	10	0.21014	T	0.42	-29.3247	2.7165	0.05189	0.2901:0.4681:0.146:0.0959	.	111	Q8TBE9	NANP_HUMAN	S	111	ENSP00000302441:A111S	ENSP00000302441:A111S	A	-	1	0	NANP	25544977	0.001000	0.12720	0.976000	0.42696	0.791000	0.44710	-0.328000	0.07945	1.235000	0.43724	0.485000	0.47835	GCA		0.443	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		9	57	1	0	7.48243e-07	0.006214	9.9376e-07	9	57				
REM1	28954	broad.mit.edu	37	20	30064471	30064472	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:30064471_30064472GG>TT	ENST00000201979.2	+	2	516_517	c.223_224GG>TT	c.(223-225)GGc>TTc	p.G75F	DEFB124_ENST00000481595.1_5'UTR	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	75					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CGACTCTGAAGGCTCCTGGGAG	0.599																																							uc002wwa.2		NA																	0				lung(2)|pancreas(2)	4						c.(223-225)GGC>TTC		RAS-like GTP-binding protein REM																																				SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064471_30064472GG>TT	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	Exception_encountered	20.37:g.30064471_30064472delinsTT	ENSP00000201979:p.Gly75Phe						p.G75F	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	507_508	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		75					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	DNP	ENST00000201979.2	37	c.223_224GG>TT	CCDS13181.1																																																																																				0.599	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		22	38	0	0	0	0.004672	0	22	38				
MYLK2	85366	broad.mit.edu	37	20	30409403	30409403	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:30409403C>A	ENST00000375994.2	+	3	908	c.635C>A	c.(634-636)cCa>cAa	p.P212Q	MYLK2_ENST00000375985.4_Missense_Mutation_p.P212Q			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	212					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAGAAAACCCCAGGCCAGGCT	0.607																																							uc002wwq.2		NA																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(634-636)CCA>CAA		skeletal myosin light chain kinase							84.0	91.0	89.0					20																	30409403		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409403C>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.635C>A	20.37:g.30409403C>A	ENSP00000365162:p.Pro212Gln						p.P212Q	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	737	+			212					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.635C>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059810	0.36373	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67345	-0.26;-0.26	4.97	2.87	0.33458	.	.	.	.	.	T	0.52370	0.1730	N	0.25647	0.755	0.27902	N	0.938949	B	0.15141	0.012	B	0.10450	0.005	T	0.50508	-0.8820	9	0.56958	D	0.05	.	9.585	0.39510	0.408:0.592:0.0:0.0	.	212	Q9H1R3	MYLK2_HUMAN	Q	212	ENSP00000365162:P212Q;ENSP00000365152:P212Q	ENSP00000365152:P212Q	P	+	2	0	MYLK2	29873064	0.000000	0.05858	0.987000	0.45799	0.974000	0.67602	0.163000	0.16520	1.310000	0.45006	0.561000	0.74099	CCA		0.607	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		23	86	1	0	2.70639e-06	0.002299	3.50676e-06	23	86				
HCK	3055	broad.mit.edu	37	20	30689292	30689292	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:30689292C>A	ENST00000520553.1	+	13	1734	c.1488C>A	c.(1486-1488)gcC>gcA	p.A496A	HCK_ENST00000538448.1_Silent_p.A496A|HCK_ENST00000518730.1_Silent_p.A495A|HCK_ENST00000375862.2_Silent_p.A516A|HCK_ENST00000375852.2_Silent_p.A517A|HCK_ENST00000534862.1_Silent_p.A497A	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TCTACACGGCCACAGAGAGCC	0.607																																							uc002wxh.2		NA																	0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(1549-1551)GCC>GCA		hemopoietic cell kinase isoform p61HCK							38.0	32.0	34.0					20																	30689292		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30689292C>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1488C>A	20.37:g.30689292C>A						HCK_uc010gdy.2_Silent_p.A496A|HCK_uc002wxi.2_Silent_p.A495A	p.A517A	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1722	+			517					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.1551C>A	CCDS54455.1																																																																																				0.607	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			4	18	1	0	0.00909568	0.009096	0.00964006	4	18				
PLAGL2	5326	broad.mit.edu	37	20	30785203	30785203	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:30785203C>T	ENST00000246229.4	-	3	807	c.543G>A	c.(541-543)cgG>cgA	p.R181R		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	181					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGCCTGCTACCCGGCGTGAGT	0.617																																					Colon(163;15 1893 11280 16306 47518)	Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NA																	0				ovary(1)|skin(1)	2						c.(541-543)CGG>CGA		pleiomorphic adenoma gene-like 2							26.0	23.0	24.0					20																	30785203		2202	4300	6502	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30785203C>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.543G>A	20.37:g.30785203C>T							p.R181R	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	760	-			181					A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.543G>A	CCDS13197.1																																																																																				0.617	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		5	12	0	0	0	0.001168	0	5	12				
SUN5	140732	broad.mit.edu	37	20	31583529	31583529	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:31583529A>T	ENST00000356173.3	-	8	522	c.430T>A	c.(430-432)Tac>Aac	p.Y144N	SUN5_ENST00000375523.3_Missense_Mutation_p.Y119N	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	144					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TTCTCCTGGTACAACCTTATC	0.483																																							uc002wyi.2		NA																	0				skin(1)	1						c.(430-432)TAC>AAC		sperm associated antigen 4-like							221.0	182.0	195.0					20																	31583529		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31583529A>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.430T>A	20.37:g.31583529A>T	ENSP00000348496:p.Tyr144Asn						p.Y144N	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			8	523	-			144			Potential.		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.430T>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.752159	0.49362	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.13420	2.59;2.63	5.95	5.95	0.96441	.	0.325917	0.24312	N	0.039625	T	0.33731	0.0873	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01670	-1.1299	10	0.42905	T	0.14	-21.565	12.8077	0.57622	1.0:0.0:0.0:0.0	.	144	Q8TC36	SUN5_HUMAN	N	144;119	ENSP00000348496:Y144N;ENSP00000364673:Y119N	ENSP00000348496:Y144N	Y	-	1	0	SUN5	31047190	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	4.247000	0.58750	2.279000	0.76181	0.533000	0.62120	TAC		0.483	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		64	116	0	0	0	0.00361	0	64	116				
PXMP4	11264	broad.mit.edu	37	20	32302524	32302524	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:32302524C>A	ENST00000409299.3	-	2	224	c.132G>T	c.(130-132)cgG>cgT	p.R44R	PXMP4_ENST00000344022.3_Silent_p.R44R|PXMP4_ENST00000217398.3_Silent_p.R44R	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	44						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.R44L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CGTGAGGGGCCCGGATTTTGG	0.502																																							uc002wzv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CGG>CGT		peroxisomal membrane protein 4 isoform a							149.0	137.0	141.0					20																	32302524		2203	4300	6503	SO:0001819	synonymous_variant	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32302524C>A	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.132G>T	20.37:g.32302524C>A						PXMP4_uc002wzw.2_Silent_p.R44R|PXMP4_uc010zuh.1_Silent_p.R44R	p.R44R	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN			2	255	-			44					A2A2I7|Q9H0T4	Silent	SNP	ENST00000409299.3	37	c.132G>T	CCDS13225.1																																																																																				0.502	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		19	115	1	0	1.10513e-12	0.002299	1.81519e-12	19	115				
ACSS2	55902	broad.mit.edu	37	20	33509666	33509666	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:33509666T>C	ENST00000360596.2	+	13	1756	c.1545T>C	c.(1543-1545)taT>taC	p.Y515Y	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Silent_p.Y465Y|ACSS2_ENST00000253382.5_Silent_p.Y528Y	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	515					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGAAGGTTATCTGGTGAGGC	0.493																																							uc002xbd.2		NA																	0					0						c.(1543-1545)TAT>TAC		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						219.0	218.0	219.0					20																	33509666		2203	4300	6503	SO:0001819	synonymous_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33509666T>C	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1545T>C	20.37:g.33509666T>C						ACSS2_uc002xbc.2_Silent_p.Y420Y|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.Y528Y|ACSS2_uc002xbe.2_Silent_p.Y223Y|ACSS2_uc002xbf.2_Intron	p.Y515Y	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN			13	1666	+			515					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	ENST00000360596.2	37	c.1545T>C	CCDS13243.1																																																																																				0.493	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		35	194	0	0	0	0.003271	0	35	194				
RPN2	6185	broad.mit.edu	37	20	35812692	35812692	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:35812692G>T	ENST00000237530.6	+	2	434	c.123G>T	c.(121-123)ctG>ctT	p.L41L	RPN2_ENST00000373622.5_Silent_p.L41L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	41					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AAGCCTCGCTGGATCGCCCTT	0.537																																							uc002xgp.2		NA																	0				ovary(2)|skin(1)	3						c.(121-123)CTG>CTT		ribophorin II isoform 1 precursor							126.0	105.0	112.0					20																	35812692		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35812692G>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.123G>T	20.37:g.35812692G>T						RPN2_uc002xgo.3_Silent_p.L41L|RPN2_uc010gfw.2_5'UTR|RPN2_uc002xgq.2_Silent_p.L41L	p.L41L	NM_002951	NP_002942	P04844	RPN2_HUMAN			2	427	+		Myeloproliferative disorder(115;0.00878)	41			Lumenal (Potential).		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.123G>T	CCDS13291.1																																																																																				0.537	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		21	49	1	0	1.55795e-14	0.012319	2.67526e-14	21	49				
SRC	6714	broad.mit.edu	37	20	36026134	36026134	+	Missense_Mutation	SNP	A	A	T	rs370773419		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:36026134A>T	ENST00000373578.2	+	9	1085	c.736A>T	c.(736-738)Acc>Tcc	p.T246S	SRC_ENST00000360723.4_Missense_Mutation_p.T252S|SRC_ENST00000373558.2_Missense_Mutation_p.T252S|SRC_ENST00000358208.4_Missense_Mutation_p.T246S|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_Missense_Mutation_p.T246S|SRC_ENST00000445403.1_Missense_Mutation_p.T246S	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	246	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CCGCCTCACCACCGTGTGCCC	0.687																																							uc002xgx.2		NA																	0				large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13						c.(736-738)ACC>TCC		proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)						42.0	39.0	40.0					20																	36026134		2202	4299	6501	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36026134A>T	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.736A>T	20.37:g.36026134A>T	ENSP00000362680:p.Thr246Ser					SRC_uc002xgy.2_Missense_Mutation_p.T246S	p.T246S	NM_005417	NP_005408	P12931	SRC_HUMAN			9	1185	+		Myeloproliferative disorder(115;0.00878)	246			SH2.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.736A>T	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.618292	0.28801	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	4.53	3.44	0.39384	SH2 motif (2);	0.162695	0.53938	D	0.000054	T	0.13586	0.0329	N	0.20530	0.585	0.34105	D	0.662344	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.15066	T	0.55	.	7.7968	0.29152	0.8998:0.0:0.1002:0.0	.	246	P12931	SRC_HUMAN	S	246;246;252;246;246;252	ENSP00000408503:T246S;ENSP00000362680:T246S;ENSP00000353950:T252S;ENSP00000350941:T246S;ENSP00000362668:T246S;ENSP00000362659:T252S	ENSP00000350941:T246S	T	+	1	0	SRC	35459548	1.000000	0.71417	0.973000	0.42090	0.528000	0.34623	4.214000	0.58527	0.786000	0.33708	0.379000	0.24179	ACC		0.687	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		9	17	0	0	0	0.008291	0	9	17				
LBP	3929	broad.mit.edu	37	20	36974972	36974972	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:36974972C>A	ENST00000217407.2	+	1	214	c.53C>A	c.(52-54)aCg>aAg	p.T18K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	18					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTGCTGCTTACGTCCACCCCA	0.612																																							uc002xic.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(52-54)ACG>AAG		lipopolysaccharide-binding protein precursor							72.0	66.0	68.0					20																	36974972		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36974972C>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.53C>A	20.37:g.36974972C>A	ENSP00000217407:p.Thr18Lys						p.T18K	NM_004139	NP_004130	P18428	LBP_HUMAN			1	88	+		Myeloproliferative disorder(115;0.00878)	18					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.53C>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705121	0.15172	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.05580	3.42	4.63	-6.09	0.02145	.	2.473690	0.01214	N	0.007912	T	0.07324	0.0185	M	0.65498	2.005	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.34378	-0.9831	10	0.25751	T	0.34	0.0068	3.7298	0.08488	0.1252:0.1724:0.1236:0.5788	.	18	P18428	LBP_HUMAN	K	18	ENSP00000217407:T18K	ENSP00000217407:T18K	T	+	2	0	LBP	36408386	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.154000	0.10130	-1.155000	0.02822	-2.265000	0.00278	ACG		0.612	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		12	44	1	0	4.36969e-10	0.001855	6.60896e-10	12	44				
TOP1	7150	broad.mit.edu	37	20	39728849	39728849	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:39728849A>G	ENST00000361337.2	+	12	1379	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	377					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GAAGAGACGAATCATGCCCGA	0.507			T	NUP98	AML*																																		uc002xjl.2		NA		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(1129-1131)ATC>GTC		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						58.0	58.0	58.0					20																	39728849		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39728849A>G		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1129A>G	20.37:g.39728849A>G	ENSP00000354522:p.Ile377Val					uc002xjn.1_Intron	p.I377V	NM_003286	NP_003277	P11387	TOP1_HUMAN			12	1375	+		Myeloproliferative disorder(115;0.00878)	377					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.1129A>G	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720236	0.30503	.	.	ENSG00000198900	ENST00000361337	T	0.40476	1.03	5.27	5.27	0.74061	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	N	0.11427	0.14	0.58432	D	0.999999	P	0.36171	0.541	P	0.49085	0.6	T	0.13548	-1.0505	10	0.08599	T	0.76	-11.576	15.488	0.75582	1.0:0.0:0.0:0.0	.	377	P11387	TOP1_HUMAN	V	377	ENSP00000354522:I377V	ENSP00000354522:I377V	I	+	1	0	TOP1	39162263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.367000	0.73099	2.134000	0.65973	0.533000	0.62120	ATC		0.507	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			10	34	0	0	0	0.010729	0	10	34				
PTPRT	11122	broad.mit.edu	37	20	40979359	40979359	+	Missense_Mutation	SNP	G	G	T	rs201657236		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:40979359G>T	ENST00000373187.1	-	11	1773	c.1774C>A	c.(1774-1776)Cct>Act	p.P592T	PTPRT_ENST00000373190.1_Missense_Mutation_p.P592T|PTPRT_ENST00000356100.2_Missense_Mutation_p.P592T|PTPRT_ENST00000373201.1_Missense_Mutation_p.P592T|PTPRT_ENST00000373198.4_Missense_Mutation_p.P592T|PTPRT_ENST00000373184.1_Missense_Mutation_p.P592T|PTPRT_ENST00000373193.3_Missense_Mutation_p.P592T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	592	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGTACTCAGGCATGGATGGA	0.562																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1774-1776)CCT>ACT		protein tyrosine phosphatase, receptor type, T							137.0	143.0	141.0					20																	40979359		2091	4225	6316	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40979359G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1774C>A	20.37:g.40979359G>T	ENSP00000362283:p.Pro592Thr					PTPRT_uc010ggj.2_Missense_Mutation_p.P592T	p.P592T	NM_007050	NP_008981	O14522	PTPRT_HUMAN			11	1958	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	592			Extracellular (Potential).|Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1774C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340221	0.60963	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.52754	0.65;0.66;0.65;0.69;0.65;0.67;0.65	6.06	5.06	0.68205	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.106080	0.64402	D	0.000003	T	0.44973	0.1319	L	0.42744	1.35	0.80722	D	1	B;B	0.20368	0.016;0.044	B;B	0.26770	0.073;0.031	T	0.36089	-0.9762	10	0.52906	T	0.07	.	16.8654	0.86028	0.0:0.128:0.872:0.0	.	592;592	O14522-1;O14522	.;PTPRT_HUMAN	T	592	ENSP00000362286:P592T;ENSP00000362283:P592T;ENSP00000362289:P592T;ENSP00000348408:P592T;ENSP00000362294:P592T;ENSP00000362280:P592T;ENSP00000362297:P592T	ENSP00000348408:P592T	P	-	1	0	PTPRT	40412773	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.295000	0.72744	2.882000	0.98803	0.655000	0.94253	CCT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			27	50	1	0	7.26314e-15	0.007291	1.26251e-14	27	50				
JPH2	57158	broad.mit.edu	37	20	42788499	42788499	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:42788499T>C	ENST00000372980.3	-	2	1800	c.928A>G	c.(928-930)Agt>Ggt	p.S310G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	310					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGAGGCCACTGGAGCGTTCG	0.672																																							uc002xli.1		NA																	0					0						c.(928-930)AGT>GGT		junctophilin 2 isoform 1							56.0	49.0	51.0					20																	42788499		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788499T>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.928A>G	20.37:g.42788499T>C	ENSP00000362071:p.Ser310Gly						p.S310G	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1801	-		Myeloproliferative disorder(115;0.0122)	310			MORN 7.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.928A>G	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	t	16.54	3.151686	0.57151	.	.	ENSG00000149596	ENST00000372980	T	0.56776	0.44	3.1	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	L	0.41027	1.25	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.61695	-0.7010	10	0.66056	D	0.02	.	11.4852	0.50350	0.0:0.0:0.0:1.0	.	310	Q9BR39	JPH2_HUMAN	G	310	ENSP00000362071:S310G	ENSP00000362071:S310G	S	-	1	0	JPH2	42221913	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	5.747000	0.68689	1.266000	0.44231	0.248000	0.18094	AGT		0.672	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			3	17	0	0	0	0.004672	0	3	17				
ARFGEF2	10564	broad.mit.edu	37	20	47585760	47585760	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:47585760G>A	ENST00000371917.4	+	9	1136	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	379					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTTGTGTTCCGCTCCCTGTGC	0.532																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(1135-1137)CGC>CAC		ADP-ribosylation factor guanine							213.0	147.0	169.0					20																	47585760		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47585760G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1136G>A	20.37:g.47585760G>A	ENSP00000360985:p.Arg379His						p.R379H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		9	1288	+			379					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1136G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590521	0.96590	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.50001	0.76	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85766	0.1352	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	379	Q9Y6D5	BIG2_HUMAN	H	379	ENSP00000360985:R379H	ENSP00000360985:R379H	R	+	2	0	ARFGEF2	47019167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGC		0.532	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		14	51	0	0	0	0.004007	0	14	51				
TSHZ2	128553	broad.mit.edu	37	20	51871691	51871691	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:51871691T>C	ENST00000371497.5	+	2	2581	c.1694T>C	c.(1693-1695)cTg>cCg	p.L565P	TSHZ2_ENST00000603338.2_Missense_Mutation_p.L562P|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L562P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	565					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCCAGGTACTGCAGATCCGG	0.587																																							uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1693-1695)CTG>CCG		teashirt zinc finger homeobox 2							91.0	82.0	85.0					20																	51871691		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871691T>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1694T>C	20.37:g.51871691T>C	ENSP00000360552:p.Leu565Pro						p.L565P	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2650	+			565					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1694T>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698796	0.30142	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.29655	1.56;1.56	5.8	5.8	0.92144	.	0.449576	0.24312	N	0.039622	T	0.32971	0.0847	L	0.51422	1.61	0.58432	D	0.999998	P	0.45283	0.855	B	0.41571	0.36	T	0.06409	-1.0828	10	0.44086	T	0.13	-12.4268	16.1307	0.81436	0.0:0.0:0.0:1.0	.	565	Q9NRE2	TSH2_HUMAN	P	565;562;91	ENSP00000360552:L565P;ENSP00000333114:L562P	ENSP00000333114:L562P	L	+	2	0	TSHZ2	51305098	1.000000	0.71417	0.993000	0.49108	0.828000	0.46876	4.724000	0.61972	2.220000	0.72140	0.523000	0.50628	CTG		0.587	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		14	73	0	0	0	0.004007	0	14	73				
BCAS1	8537	broad.mit.edu	37	20	52645453	52645453	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:52645453C>A	ENST00000395961.3	-	4	367	c.201G>T	c.(199-201)acG>acT	p.T67T	BCAS1_ENST00000411563.1_5'UTR|BCAS1_ENST00000371440.3_Silent_p.T67T|BCAS1_ENST00000371435.2_Silent_p.T67T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	67						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CACTTATCTCCGTTGTCTCGG	0.483																																							uc002xws.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(199-201)ACG>ACT		breast carcinoma amplified sequence 1							70.0	63.0	66.0					20																	52645453		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52645453C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.201G>T	20.37:g.52645453C>A						BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Silent_p.T67T|BCAS1_uc010gil.1_Silent_p.T67T|BCAS1_uc010zzc.1_5'UTR	p.T67T	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	539	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		67					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.201G>T	CCDS13444.1																																																																																				0.483	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	31	1	0	0.000157383	0.00308	0.000182879	8	31				
ZNF831	128611	broad.mit.edu	37	20	57769446	57769446	+	Silent	SNP	G	G	A	rs150212573	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:57769446G>A	ENST00000371030.2	+	1	3372	c.3372G>A	c.(3370-3372)ccG>ccA	p.P1124P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1124							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCCGACCCGTGTTCCCCCC	0.667													.|||	4	0.000798722	0.0	0.0	5008	,	,		14484	0.003		0.001	False		,,,				2504	0.0						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3370-3372)CCG>CCA		zinc finger protein 831		G		0,3804		0,0,1902	34.0	38.0	37.0		3372	-2.8	0.0	20	dbSNP_134	37	5,8221		0,5,4108	no	coding-synonymous	ZNF831	NM_178457.1		0,5,6010	AA,AG,GG		0.0608,0.0,0.0416		1124/1678	57769446	5,12025	1902	4113	6015	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769446G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3372G>A	20.37:g.57769446G>A							p.P1124P	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3372	+	all_lung(29;0.0085)		1124					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3372G>A	CCDS42894.1																																																																																				0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	39	0	0	0	0.001984	0	6	39				
ZNF831	128611	broad.mit.edu	37	20	57769659	57769659	+	Silent	SNP	C	C	A	rs377420696		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:57769659C>A	ENST00000371030.2	+	1	3585	c.3585C>A	c.(3583-3585)ccC>ccA	p.P1195P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1195							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCTCTGCCCGCGGAGCAGA	0.632																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3583-3585)CCC>CCA		zinc finger protein 831		C		0,4154		0,0,2077	35.0	41.0	39.0		3585	-7.2	0.0	20		39	1,8437		0,1,4218	no	coding-synonymous	ZNF831	NM_178457.1		0,1,6295	AA,AC,CC		0.0119,0.0,0.0079		1195/1678	57769659	1,12591	2077	4219	6296	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769659C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3585C>A	20.37:g.57769659C>A							p.P1195P	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3585	+	all_lung(29;0.0085)		1195					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3585C>A	CCDS42894.1																																																																																				0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		11	25	1	0	0.00829132	0.008291	0.00888729	11	25				
CHRNA4	1137	broad.mit.edu	37	20	61991028	61991028	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:61991028C>A	ENST00000370263.4	-	2	321	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	RP11-261N11.8_ENST00000370257.1_RNA|CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	34					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCGGCGTGGGCCCGGGTCTCC	0.672																																							uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(100-102)GCC>TCC		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						53.0	54.0	53.0					20																	61991028		2192	4285	6477	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61991028C>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.100G>T	20.37:g.61991028C>A	ENSP00000359285:p.Ala34Ser					CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.A34S	NM_000744	NP_000735	P43681	ACHA4_HUMAN			2	278	-	all_cancers(38;1.71e-10)		34			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.100G>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163831	0.38217	.	.	ENSG00000101204	ENST00000370263	T	0.77489	-1.1	4.26	3.31	0.37934	.	0.074790	0.53938	D	0.000045	T	0.60011	0.2236	L	0.32530	0.975	0.50632	D	0.999885	B	0.23377	0.084	B	0.21360	0.034	T	0.50591	-0.8810	10	0.02654	T	1	.	8.3841	0.32491	0.0:0.8184:0.0:0.1816	.	34	P43681	ACHA4_HUMAN	S	34	ENSP00000359285:A34S	ENSP00000359285:A34S	A	-	1	0	CHRNA4	61461472	1.000000	0.71417	0.896000	0.35187	0.846000	0.48090	2.856000	0.48341	0.781000	0.33589	0.491000	0.48974	GCC		0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			4	39	1	0	0.000602214	0.000602	0.000676645	4	39				
UCKL1	54963	broad.mit.edu	37	20	62571609	62571609	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:62571609T>A	ENST00000354216.6	-	14	1503	c.1461A>T	c.(1459-1461)gcA>gcT	p.A487A	UCKL1_ENST00000369908.5_Silent_p.A472A|MIR1914_ENST00000607800.1_RNA|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.A487A	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	487					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCCCATCTCTGCCATGAGCA	0.567																																							uc010gkn.2		NA																	0					0						c.(1459-1461)GCA>GCT		uridine-cytidine kinase 1-like 1							111.0	87.0	95.0					20																	62571609		2200	4298	6498	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571609T>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1461A>T	20.37:g.62571609T>A						UCKL1_uc002yhj.2_Silent_p.A130A|UCKL1_uc011abm.1_Silent_p.A472A|UCKL1_uc011abn.1_RNA	p.A487A	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			14	1504	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		487					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1461A>T	CCDS13547.1																																																																																				0.567	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		13	40	0	0	0	0.00245	0	13	40				
TPTE	7179	broad.mit.edu	37	21	10910354	10910354	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:10910354C>A	ENST00000361285.4	-	22	1731	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D430Y|TPTE_ENST00000298232.7_Missense_Mutation_p.D450Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	468	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTAGACCGTCGAATACATCA	0.338																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1402-1404)GAC>TAC		transmembrane phosphatase with tensin homology							251.0	229.0	237.0					21																	10910354		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10910354C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1402G>T	21.37:g.10910354C>A	ENSP00000355208:p.Asp468Tyr					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D450Y|TPTE_uc002yir.1_Missense_Mutation_p.D430Y|TPTE_uc010gkv.1_Missense_Mutation_p.D330Y	p.D468Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	22	1770	-			468			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1402G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.74	1.435596	0.25813	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86432	-2.12;-2.12;-2.12	2.25	-2.17	0.07059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.763209	0.12708	N	0.445786	T	0.80613	0.4656	L	0.29908	0.895	0.09310	N	1	P;P;B	0.48834	0.916;0.916;0.036	P;P;B	0.52066	0.597;0.689;0.111	T	0.70110	-0.4962	10	0.33141	T	0.24	-4.5004	2.9881	0.05974	0.0:0.3189:0.2414:0.4397	.	430;450;468	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	450;468;430	ENSP00000298232:D450Y;ENSP00000355208:D468Y;ENSP00000344441:D430Y	ENSP00000298232:D450Y	D	-	1	0	TPTE	9932225	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	-0.023000	0.12456	-0.465000	0.06953	0.184000	0.17185	GAC		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			21	92	1	0	1.22574e-08	0.002299	1.77341e-08	21	92				
TMPRSS15	5651	broad.mit.edu	37	21	19687566	19687566	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:19687566G>A	ENST00000284885.3	-	17	1962	c.1929C>T	c.(1927-1929)tgC>tgT	p.C643C		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	643	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGTCTGCCTTGCATGGCTCTA	0.413																																							uc002ykw.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1927-1929)TGC>TGT		enterokinase precursor							145.0	119.0	128.0					21																	19687566		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19687566G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1929C>T	21.37:g.19687566G>A							p.C643C	NM_002772	NP_002763	P98073	ENTK_HUMAN			17	1960	-			643			Extracellular (Potential).|LDL-receptor class A 2.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1929C>T	CCDS13571.1																																																																																				0.413	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		6	27	0	0	0	0.001168	0	6	27				
ADAMTS5	11096	broad.mit.edu	37	21	28338566	28338566	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:28338566C>T	ENST00000284987.5	-	1	266	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	49					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGCACCTCCTCCCCCTGCCGC	0.751																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(145-147)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							7.0	8.0	7.0					21																	28338566		1900	3791	5691	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338566C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.145G>A	21.37:g.28338566C>T	ENSP00000284987:p.Glu49Lys						p.E49K	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	874	-			49					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.145G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383490	0.61845	.	.	ENSG00000154736	ENST00000284987	T	0.05855	3.38	4.17	2.23	0.28157	.	0.000000	0.41396	D	0.000894	T	0.04182	0.0116	L	0.36672	1.1	0.26878	N	0.967597	B	0.02656	0.0	B	0.06405	0.002	T	0.31223	-0.9951	10	0.27785	T	0.31	.	2.3259	0.04222	0.1983:0.5002:0.1917:0.1098	.	49	Q9UNA0	ATS5_HUMAN	K	49	ENSP00000284987:E49K	ENSP00000284987:E49K	E	-	1	0	ADAMTS5	27260437	0.997000	0.39634	1.000000	0.80357	0.726000	0.41606	0.503000	0.22610	2.122000	0.65172	0.563000	0.77884	GAG		0.751	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			3	13	0	0	0	0.004672	0	3	13				
GRIK1	2897	broad.mit.edu	37	21	30953808	30953808	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:30953808C>T	ENST00000399907.1	-	13	2260	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	GRIK1_ENST00000399909.1_Missense_Mutation_p.V602M|GRIK1_ENST00000399913.1_Missense_Mutation_p.V617M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V619M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V617M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V619M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V617M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V602M|GRIK1_ENST00000399914.1_Missense_Mutation_p.V602M	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	617					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTGTTTTCCACCACGTCTGAG	0.448																																							uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1849-1851)GTG>ATG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						107.0	100.0	103.0					21																	30953808		2203	4299	6502	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30953808C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1849G>A	21.37:g.30953808C>T	ENSP00000382791:p.Val617Met					GRIK1_uc002ynn.2_Missense_Mutation_p.V602M|GRIK1_uc011acs.1_Missense_Mutation_p.V617M|GRIK1_uc011act.1_Missense_Mutation_p.V478M|GRIK1_uc010glq.1_Missense_Mutation_p.V460M	p.V617M	NM_000830	NP_000821	P39086	GRIK1_HUMAN			13	2313	-			617			Cytoplasmic (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1849G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915209	0.92178	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.055096	0.64402	D	0.000001	T	0.71358	0.3330	M	0.61703	1.905	0.80722	D	1	D;D;P;D;D	0.65815	0.991;0.991;0.898;0.991;0.995	D;D;P;D;D	0.74348	0.983;0.983;0.884;0.983;0.959	T	0.71823	-0.4476	10	0.66056	D	0.02	.	19.1941	0.93679	0.0:1.0:0.0:0.0	.	602;617;602;617;602	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	M	617;602;617;602;619;478;617;617;602;619	ENSP00000327687:V617M;ENSP00000373777:V602M;ENSP00000382797:V617M;ENSP00000382798:V602M;ENSP00000446326:V619M;ENSP00000373776:V617M;ENSP00000382791:V617M;ENSP00000382793:V602M;ENSP00000311646:V619M	ENSP00000311646:V619M	V	-	1	0	GRIK1	29875679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	2.854000	0.98071	0.655000	0.94253	GTG		0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			13	34	0	0	0	0.001855	0	13	34				
GRIK1	2897	broad.mit.edu	37	21	31045395	31045395	+	Missense_Mutation	SNP	C	C	A	rs375865260		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:31045395C>A	ENST00000399907.1	-	4	1045	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	GRIK1_ENST00000399909.1_Missense_Mutation_p.A212S|GRIK1_ENST00000399913.1_Missense_Mutation_p.A212S|GRIK1_ENST00000535441.1_Missense_Mutation_p.A212S|GRIK1_ENST00000389124.2_Missense_Mutation_p.A212S|GRIK1_ENST00000309434.7_Missense_Mutation_p.A212S|GRIK1_ENST00000327783.4_Missense_Mutation_p.A212S|GRIK1_ENST00000389125.3_Missense_Mutation_p.A212S|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399914.1_Missense_Mutation_p.A212S	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	212					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AAAGGCTTGGCATCTTTATTC	0.408																																							uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(634-636)GCC>TCC		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						127.0	134.0	132.0					21																	31045395		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045395C>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.634G>T	21.37:g.31045395C>A	ENSP00000382791:p.Ala212Ser					GRIK1_uc002ynn.2_Missense_Mutation_p.A212S|GRIK1_uc011acs.1_Missense_Mutation_p.A212S|GRIK1_uc011act.1_Missense_Mutation_p.A156S|GRIK1_uc010glq.1_Missense_Mutation_p.A70S|GRIK1_uc002ynr.2_Missense_Mutation_p.A212S	p.A212S	NM_000830	NP_000821	P39086	GRIK1_HUMAN			4	1098	-			212			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.634G>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250388	0.39797	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.229300	0.44688	D	0.000421	T	0.13970	0.0338	N	0.04880	-0.145	0.58432	D	0.999999	B;B;B;B;B;B	0.17038	0.009;0.02;0.003;0.02;0.02;0.002	B;B;B;B;B;B	0.24394	0.036;0.036;0.007;0.036;0.053;0.014	T	0.14035	-1.0487	10	0.34782	T	0.22	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	212;212;212;212;212;212	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	S	212;212;212;212;212;156;212;212;212;212	ENSP00000327687:A212S;ENSP00000373777:A212S;ENSP00000382797:A212S;ENSP00000382798:A212S;ENSP00000446326:A212S;ENSP00000373776:A212S;ENSP00000382791:A212S;ENSP00000382793:A212S;ENSP00000311646:A212S	ENSP00000311646:A212S	A	-	1	0	GRIK1	29967266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.912000	0.56386	2.850000	0.98022	0.650000	0.86243	GCC		0.408	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			58	77	1	0	1.4709e-25	0.00361	2.80328e-25	58	77				
KRTAP23-1	337963	broad.mit.edu	37	21	31720917	31720917	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:31720917T>C	ENST00000334160.4	-	1	7	c.8A>G	c.(7-9)tAc>tGc	p.Y3C		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	3						intermediate filament (GO:0005882)				large_intestine(1)|lung(4)|prostate(1)	6						GCAGCAGTTGTAGGACATGTT	0.547																																							uc002yny.1		NA																	0					0						c.(7-9)TAC>TGC		keratin associated protein 23-1							167.0	126.0	140.0					21																	31720917		2203	4300	6503	SO:0001583	missense	337963					intermediate filament		g.chr21:31720917T>C	AP001708	CCDS33533.1	21q22.1	2008-05-21			ENSG00000186980	ENSG00000186980		"""Keratin associated proteins"""	18928	protein-coding gene	gene with protein product						12359730	Standard	NM_181624		Approved	KAP23.1	uc002yny.1	A1A580	OTTHUMG00000057792	ENST00000334160.4:c.8A>G	21.37:g.31720917T>C	ENSP00000346536:p.Tyr3Cys						p.Y3C	NM_181624	NP_853655	A1A580	KR231_HUMAN			1	8	-			3						Missense_Mutation	SNP	ENST00000334160.4	37	c.8A>G	CCDS33533.1	.	.	.	.	.	.	.	.	.	.	T	4.066	0.009986	0.07912	.	.	ENSG00000186980	ENST00000334160	T	0.03663	3.85	4.21	1.79	0.24919	.	.	.	.	.	T	0.10380	0.0254	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.61397	0.888	T	0.18147	-1.0346	8	0.87932	D	0	.	4.7978	0.13281	0.0:0.1058:0.207:0.6871	.	3	A1A580	KR231_HUMAN	C	3	ENSP00000346536:Y3C	ENSP00000346536:Y3C	Y	-	2	0	KRTAP23-1	30642788	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.054000	0.11826	0.231000	0.21079	-0.274000	0.10170	TAC		0.547	KRTAP23-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128244.4			14	61	0	0	0	0.00245	0	14	61				
KRTAP19-1	337882	broad.mit.edu	37	21	31852438	31852438	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:31852438C>A	ENST00000390689.2	-	1	225	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	67	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCTCCAAAGCCAGAGCCATAT	0.512																																							uc011acx.1		NA																	0					0						c.(199-201)GGC>TGC		keratin associated protein 19-1							199.0	214.0	209.0					21																	31852438		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852438C>A	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.199G>T	21.37:g.31852438C>A	ENSP00000375108:p.Gly67Cys						p.G67C	NM_181607	NP_853638	Q8IUB9	KR191_HUMAN			1	199	-			67			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.199G>T	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	6.051	0.377672	0.11466	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.34667	1.35	3.66	-0.947	0.10382	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.09310	N	1	P	0.39022	0.655	B	0.30179	0.112	T	0.12760	-1.0535	8	0.87932	D	0	.	3.3768	0.07241	0.3438:0.4396:0.0:0.2166	.	67	Q8IUB9	KR191_HUMAN	C	67;58	ENSP00000375108:G67C	ENSP00000375108:G67C	G	-	1	0	KRTAP19-1	30774309	0.006000	0.16342	0.000000	0.03702	0.054000	0.15201	-0.634000	0.05477	-0.317000	0.08677	0.186000	0.17326	GGC		0.512	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			59	174	1	0	2.69953e-25	0.00361	5.13909e-25	59	174				
ITSN1	6453	broad.mit.edu	37	21	35166694	35166694	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:35166694T>C	ENST00000381318.3	+	17	2162	c.1874T>C	c.(1873-1875)aTg>aCg	p.M625T	ITSN1_ENST00000381291.4_Missense_Mutation_p.M625T|ITSN1_ENST00000379960.5_Missense_Mutation_p.M625T|ITSN1_ENST00000399352.1_Missense_Mutation_p.M625T|ITSN1_ENST00000381285.4_Missense_Mutation_p.M625T|ITSN1_ENST00000399326.3_Missense_Mutation_p.M625T|ITSN1_ENST00000399355.2_Missense_Mutation_p.M625T|ITSN1_ENST00000399353.1_Missense_Mutation_p.M588T|ITSN1_ENST00000399349.1_Missense_Mutation_p.M625T|ITSN1_ENST00000399338.4_Missense_Mutation_p.M625T|ITSN1_ENST00000437442.2_Missense_Mutation_p.M625T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.M625T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	625	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAAAAGTCCATGGAGGCTGAA	0.383																																							uc002yta.1		NA																	0				ovary(3)|skin(1)	4						c.(1873-1875)ATG>ACG		intersectin 1 isoform ITSN-l							85.0	84.0	84.0					21																	35166694		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35166694T>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1874T>C	21.37:g.35166694T>C	ENSP00000370719:p.Met625Thr					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.M625T|ITSN1_uc010gmg.2_Missense_Mutation_p.M588T|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.M625T|ITSN1_uc010gmi.2_Missense_Mutation_p.M588T|ITSN1_uc010gmj.2_Missense_Mutation_p.M509T|ITSN1_uc002ysy.2_Missense_Mutation_p.M625T|ITSN1_uc002ysx.2_Missense_Mutation_p.M588T|ITSN1_uc002ytb.1_Missense_Mutation_p.M625T|ITSN1_uc002ytc.1_Missense_Mutation_p.M625T|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.M588T|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.M625T|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.M559T	p.M625T	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			17	2142	+			625			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1874T>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773552	0.31411	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.39787	1.64;2.6;2.6;2.6;1.64;1.64;2.6;1.64;1.64;1.64;1.64;1.06	5.76	5.76	0.90799	.	0.376195	0.28784	N	0.014156	T	0.35393	0.0930	N	0.22421	0.69	0.23076	N	0.998334	P;B;B;B;B;B;B;B;B;P	0.36874	0.572;0.073;0.001;0.034;0.048;0.001;0.06;0.06;0.388;0.473	B;B;B;B;B;B;B;B;B;B	0.41691	0.159;0.068;0.004;0.03;0.003;0.002;0.03;0.03;0.364;0.099	T	0.24225	-1.0166	10	0.23302	T	0.38	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	588;588;588;625;625;625;625;625;625;588	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	T	588;625;625;625;625;625;625;625;625;625;625;625;625;625	ENSP00000382290:M588T;ENSP00000370719:M625T;ENSP00000370691:M625T;ENSP00000370685:M625T;ENSP00000382301:M625T;ENSP00000382289:M625T;ENSP00000382292:M625T;ENSP00000382286:M625T;ENSP00000382275:M625T;ENSP00000387377:M625T;ENSP00000382265:M625T;ENSP00000369294:M625T	ENSP00000369294:M625T	M	+	2	0	ITSN1	34088564	1.000000	0.71417	0.937000	0.37676	0.904000	0.53231	5.844000	0.69430	2.191000	0.70037	0.533000	0.62120	ATG		0.383	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		9	27	0	0	0	0.004482	0	9	27				
ITSN1	6453	broad.mit.edu	37	21	35254742	35254742	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:35254742T>A	ENST00000381318.3	+	35	4825	c.4537T>A	c.(4537-4539)Tat>Aat	p.Y1513N	ITSN1_ENST00000381285.4_Missense_Mutation_p.Y1513N|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.Y1452N|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.Y1508N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1513	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAACCTGCAGTATAAAATGTA	0.433																																							uc002yta.1		NA																	0				ovary(3)|skin(1)	4						c.(4537-4539)TAT>AAT		intersectin 1 isoform ITSN-l							50.0	52.0	51.0					21																	35254742		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35254742T>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4537T>A	21.37:g.35254742T>A	ENSP00000370719:p.Tyr1513Asn					DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.Y1508N|ITSN1_uc002ytj.2_Missense_Mutation_p.Y1452N|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	p.Y1513N	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			35	4805	+			1513			PH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4537T>A	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.311849|4.311849	0.81358|0.81358	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79393|0.79393	0.4438|0.4438	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.995;0.995	T|T	0.81870|0.81870	-0.0734|-0.0734	5|10	.|0.87932	.|D	.|0	.|.	16.1461|16.1461	0.81569|0.81569	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1452;1508;1513	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	E|N	192|1513;1513;1442;1508;1452	.|ENSP00000370719:Y1513N;ENSP00000370685:Y1513N;ENSP00000382301:Y1508N;ENSP00000387377:Y1452N	.|ENSP00000370685:Y1513N	V|Y	+|+	2|1	0|0	ITSN1|ITSN1	34176612|34176612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.614000|4.614000	0.61183|0.61183	2.219000|2.219000	0.72066|0.72066	0.533000|0.533000	0.62120|0.62120	GTA|TAT		0.433	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		5	23	0	0	0	0.001168	0	5	23				
KCNE1	3753	broad.mit.edu	37	21	35821760	35821760	+	Missense_Mutation	SNP	G	G	A	rs281865421		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:35821760G>A	ENST00000337385.3	-	3	548	c.173C>T	c.(172-174)aCc>aTc	p.T58I	KCNE1_ENST00000416357.2_Missense_Mutation_p.T58I|KCNE1_ENST00000399286.2_Missense_Mutation_p.T58I|KCNE1_ENST00000432085.1_Missense_Mutation_p.T58I|KCNE1_ENST00000399289.3_Missense_Mutation_p.T58I|KCNE1_ENST00000399284.1_Missense_Mutation_p.T58I	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	58			TL -> PP (in JLNS2).		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GATGCCCAGGGTGAAGAAGCC	0.602																																							uc010gmp.2		NA																	0				ovary(2)	2						c.(172-174)ACC>ATC		potassium voltage-gated channel, Isk-related	Indapamide(DB00808)						94.0	73.0	80.0					21																	35821760		2203	4300	6503	SO:0001583	missense	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821760G>A	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.173C>T	21.37:g.35821760G>A	ENSP00000337255:p.Thr58Ile					KCNE1_uc002ytz.2_Missense_Mutation_p.T58I|KCNE1_uc010gmq.2_Missense_Mutation_p.T58I|KCNE1_uc010gmr.2_Missense_Mutation_p.T58I|KCNE1_uc010gms.2_Missense_Mutation_p.T58I|KCNE1_uc002yua.2_RNA	p.T58I	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN			2	603	-			58		TL -> PP (in JLNS2).	Helical; (Potential).		A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	c.173C>T	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054067	0.75960	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.16	5.16	0.70880	.	0.127021	0.53938	D	0.000056	D	0.95595	0.8568	L	0.57536	1.79	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.93819	0.7117	10	0.21014	T	0.42	-47.8457	18.2468	0.89989	0.0:0.0:1.0:0.0	.	58	P15382	KCNE1_HUMAN	I	58	ENSP00000382228:T58I;ENSP00000337255:T58I;ENSP00000412498:T58I;ENSP00000382226:T58I;ENSP00000416258:T58I;ENSP00000382225:T58I	ENSP00000337255:T58I	T	-	2	0	KCNE1	34743630	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.571000	0.74000	2.398000	0.81561	0.591000	0.81541	ACC		0.602	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			13	35	0	0	0	0.001368	0	13	35				
RCAN1	1827	broad.mit.edu	37	21	35890403	35890403	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:35890403G>A	ENST00000313806.4	-	4	868	c.738C>T	c.(736-738)taC>taT	p.Y246Y	RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Silent_p.Y111Y|RCAN1_ENST00000481448.1_Silent_p.Y236Y|RCAN1_ENST00000482533.1_Silent_p.Y111Y|RCAN1_ENST00000487990.1_Silent_p.Y111Y|RCAN1_ENST00000381135.3_Silent_p.Y236Y|RCAN1_ENST00000399272.1_Silent_p.Y165Y|RCAN1_ENST00000381132.2_Silent_p.Y191Y	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	246					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGATCGGCGTGTACTCCGGCC	0.502																																							uc002yue.2		NA																	0					0						c.(736-738)TAC>TAT		calcipressin 1 isoform a							182.0	161.0	168.0					21																	35890403		2203	4300	6503	SO:0001819	synonymous_variant	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35890403G>A		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.738C>T	21.37:g.35890403G>A						RCAN1_uc002yuc.2_Silent_p.Y165Y|RCAN1_uc002yud.2_Silent_p.Y111Y|RCAN1_uc002yub.2_Silent_p.Y191Y	p.Y246Y	NM_004414	NP_004405	P53805	RCAN1_HUMAN			4	810	-			246					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	ENST00000313806.4	37	c.738C>T	CCDS13637.1																																																																																				0.502	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			27	95	0	0	0	0.008361	0	27	95				
MORC3	23515	broad.mit.edu	37	21	37741461	37741461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:37741461G>T	ENST00000400485.1	+	15	1871	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	599					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CATGAAATCAGAACAGAGTCA	0.433																																							uc002yvi.2		NA																	0				ovary(2)	2						c.(1795-1797)GAA>TAA		MORC family CW-type zinc finger 3							233.0	226.0	228.0					21																	37741461		2148	4257	6405	SO:0001587	stop_gained	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741461G>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1795G>T	21.37:g.37741461G>T	ENSP00000383333:p.Glu599*						p.E599*	NM_015358	NP_056173	Q14149	MORC3_HUMAN			15	1871	+			599					A8KA92|Q9UEZ2	Nonsense_Mutation	SNP	ENST00000400485.1	37	c.1795G>T	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380663	0.82792	.	.	ENSG00000159256	ENST00000400485	.	.	.	5.73	4.84	0.62591	.	0.368879	0.30940	N	0.008572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-20.5151	9.9507	0.41636	0.073:0.1493:0.7777:0.0	.	.	.	.	X	599	.	ENSP00000383333:E599X	E	+	1	0	MORC3	36663331	0.998000	0.40836	0.332000	0.25469	0.278000	0.26855	3.621000	0.54210	1.429000	0.47314	0.491000	0.48974	GAA		0.433	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		24	40	1	0	2.21704e-12	0.00278	3.61011e-12	24	40				
ETS2	2114	broad.mit.edu	37	21	40194635	40194635	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:40194635A>C	ENST00000360214.3	+	11	1692	c.1232A>C	c.(1231-1233)aAg>aCg	p.K411T	ETS2_ENST00000360938.3_Missense_Mutation_p.K411T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	411					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				AATAAGCCCAAGATGAACTAC	0.483																																							uc002yxg.2		NA																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(1231-1233)AAG>ACG		v-ets erythroblastosis virus E26 oncogene							100.0	87.0	91.0					21																	40194635		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40194635A>C		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1232A>C	21.37:g.40194635A>C	ENSP00000353344:p.Lys411Thr					ETS2_uc002yxf.2_Missense_Mutation_p.K551T	p.K411T	NM_005239	NP_005230	P15036	ETS2_HUMAN			10	1428	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	411			ETS.		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.1232A>C	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972990	0.92919	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.14266	2.52;2.52	5.47	5.47	0.80525	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.089199	0.85682	D	0.000000	T	0.27454	0.0674	L	0.43923	1.385	0.80722	D	1	B	0.25850	0.136	P	0.47981	0.563	T	0.15723	-1.0427	10	0.66056	D	0.02	.	15.2226	0.73324	1.0:0.0:0.0:0.0	.	411	P15036	ETS2_HUMAN	T	411	ENSP00000353344:K411T;ENSP00000354194:K411T	ENSP00000353344:K411T	K	+	2	0	ETS2	39116505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.186000	0.94906	2.069000	0.61940	0.533000	0.62120	AAG		0.483	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			10	45	0	0	0	0.010729	0	10	45				
PCP4	5121	broad.mit.edu	37	21	41300977	41300977	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:41300977G>A	ENST00000328619.5	+	3	315	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	44	IQ.				central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				ACGTGCAGCGGTGGCCATTCA	0.463																																							uc002yyp.2		NA																	0				large_intestine(1)	1						c.(130-132)GTG>ATG		Purkinje cell protein 4							102.0	94.0	97.0					21																	41300977		2203	4300	6503	SO:0001583	missense	5121				central nervous system development	cytosol|nucleus		g.chr21:41300977G>A	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.130G>A	21.37:g.41300977G>A	ENSP00000329403:p.Val44Met						p.V44M	NM_006198	NP_006189	P48539	PCP4_HUMAN			3	211	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	44			IQ.		A6NDJ9|Q6ICS4|Q93059	Missense_Mutation	SNP	ENST00000328619.5	37	c.130G>A	CCDS33563.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256512	0.59321	.	.	ENSG00000183036	ENST00000328619	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	.	.	.	0.54753	D	0.999988	D	0.62365	0.991	P	0.59424	0.857	T	0.79885	-0.1614	8	0.72032	D	0.01	-25.0294	19.5078	0.95127	0.0:0.0:1.0:0.0	.	44	P48539	PCP4_HUMAN	M	44	.	ENSP00000329403:V44M	V	+	1	0	PCP4	40222847	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	7.290000	0.78711	2.676000	0.91093	0.655000	0.94253	GTG		0.463	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		5	47	0	0	0	0.000602	0	5	47				
MX2	4600	broad.mit.edu	37	21	42748938	42748938	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:42748938A>G	ENST00000330714.3	+	2	289	c.105A>G	c.(103-105)ccA>ccG	p.P35P	MX2_ENST00000543692.1_Silent_p.P35P	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	35					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGCCACCGCCATTCGGCACAG	0.498																																							uc002yzf.1		NA																	0				ovary(2)	2						c.(103-105)CCA>CCG		myxovirus resistance protein 2							79.0	84.0	82.0					21																	42748938		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748938A>G		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.105A>G	21.37:g.42748938A>G						MX2_uc011aer.1_RNA	p.P35P	NM_002463	NP_002454	P20592	MX2_HUMAN			2	209	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	35					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.105A>G	CCDS13672.1																																																																																				0.498	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		15	70	0	0	0	0.004007	0	15	70				
PRDM15	63977	broad.mit.edu	37	21	43236155	43236155	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:43236155C>A	ENST00000269844.3	-	26	3506	c.3396G>T	c.(3394-3396)aaG>aaT	p.K1132N	PRDM15_ENST00000422911.1_Missense_Mutation_p.K823N|PRDM15_ENST00000538201.1_Missense_Mutation_p.K786N|PRDM15_ENST00000447207.2_Missense_Mutation_p.K766N|PRDM15_ENST00000398548.1_Missense_Mutation_p.K803N	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCTTGTGCAGCTTCATGTGGT	0.627																																							uc002yzq.1		NA																	0					0						c.(3394-3396)AAG>AAT		PR domain containing 15 isoform 1							169.0	118.0	135.0					21																	43236155		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43236155C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3396G>T	21.37:g.43236155C>A	ENSP00000269844:p.Lys1132Asn					PRDM15_uc002yzo.2_Missense_Mutation_p.K803N|PRDM15_uc002yzp.2_Missense_Mutation_p.K823N|PRDM15_uc002yzr.1_Missense_Mutation_p.K823N	p.K1132N	NM_022115	NP_071398	P57071	PRD15_HUMAN			26	3507	-			1132			C2H2-type 12.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.3396G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.044185	0.75732	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.49	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32041	0.0816	N	0.21194	0.64	0.44702	D	0.997697	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.977	T	0.02411	-1.1163	9	0.34782	T	0.22	-33.9561	9.9117	0.41411	0.0:0.7609:0.0:0.2391	.	1132;823;803	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	N	823;803;786;766;1132	ENSP00000408592:K823N;ENSP00000381556:K803N;ENSP00000444044:K786N;ENSP00000390245:K766N;ENSP00000269844:K1132N	ENSP00000269844:K1132N	K	-	3	2	PRDM15	42109224	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.699000	0.25586	0.883000	0.36040	0.645000	0.84053	AAG		0.627	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		13	44	1	0	2.27111e-07	0.001368	3.08624e-07	13	44				
ZBTB21	49854	broad.mit.edu	37	21	43412040	43412040	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:43412040T>C	ENST00000310826.5	-	3	2348	c.2165A>G	c.(2164-2166)tAc>tGc	p.Y722C	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.Y722C|ZBTB21_ENST00000398499.1_Missense_Mutation_p.Y722C	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	722					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCGGCACTGGTAAACCTCCTT	0.502																																							uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2164-2166)TAC>TGC		zinc finger protein 295 isoform L							147.0	171.0	163.0					21																	43412040		2203	4299	6502	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43412040T>C	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2165A>G	21.37:g.43412040T>C	ENSP00000308759:p.Tyr722Cys					ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.Y722C|ZNF295_uc002zaa.3_Missense_Mutation_p.Y722C	p.Y722C	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2379	-			722					Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2165A>G	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699812	0.48307	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.12361	2.69;2.69;2.69	5.38	-0.206	0.13193	Zinc finger, C2H2-like (1);	0.266017	0.31884	N	0.006915	T	0.19087	0.0458	L	0.47716	1.5	0.39783	D	0.972324	D	0.69078	0.997	P	0.57371	0.819	T	0.02087	-1.1216	10	0.87932	D	0	-6.6146	6.6924	0.23181	0.5552:0.0691:0.0:0.3757	.	722	Q9ULJ3	ZN295_HUMAN	C	722	ENSP00000308759:Y722C;ENSP00000381512:Y722C;ENSP00000381523:Y722C	ENSP00000308759:Y722C	Y	-	2	0	ZNF295	42285109	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	0.832000	0.27490	-0.292000	0.08999	-0.389000	0.06534	TAC		0.502	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		58	202	0	0	0	0.00361	0	58	202				
AIRE	326	broad.mit.edu	37	21	45709916	45709916	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:45709916C>A	ENST00000291582.5	+	7	971	c.844C>A	c.(844-846)Cct>Act	p.P282T	AIRE_ENST00000329347.4_5'Flank|AIRE_ENST00000355347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	282					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CGTTCCCGCCCCTCTGGCCCT	0.687									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																														uc002zei.2		NA																	0				skin(1)	1						c.(844-846)CCT>ACT		autoimmune regulator isoform 1							20.0	24.0	22.0					21																	45709916		2190	4299	6489	SO:0001583	missense	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45709916C>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.844C>A	21.37:g.45709916C>A	ENSP00000291582:p.Pro282Thr					AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	p.P282T	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	7	971	+			282					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.844C>A	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.862392	0.00064	.	.	ENSG00000160224	ENST00000291582	D	0.97791	-4.54	3.44	1.24	0.21308	Zinc finger, FYVE/PHD-type (1);	0.338429	0.20904	N	0.083593	D	0.92961	0.7760	L	0.42245	1.32	0.09310	N	1	P	0.38922	0.651	B	0.35859	0.212	D	0.85983	0.1484	10	0.13108	T	0.6	-33.5076	5.1988	0.15252	0.2395:0.5267:0.2338:0.0	.	282	O43918	AIRE_HUMAN	T	282	ENSP00000291582:P282T	ENSP00000291582:P282T	P	+	1	0	AIRE	44534344	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.011000	0.12721	0.697000	0.31718	0.313000	0.20887	CCT		0.687	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			9	11	1	0	0.000673444	0.008291	0.00075369	9	11				
KRTAP10-7	386675	broad.mit.edu	37	21	46021053	46021053	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr21:46021053T>A	ENST00000380102.2	+	1	557	c.532T>A	c.(532-534)Tgc>Agc	p.C178S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	178	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTCTTCGTGCTGCCAGCAGTC	0.637																																							uc002zfn.3		NA																	0					0						c.(517-519)TGC>AGC		keratin associated protein 10-7							48.0	53.0	51.0					21																	46021053		2176	4248	6424	SO:0001583	missense	386675					keratin filament		g.chr21:46021053T>A	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.532T>A	21.37:g.46021053T>A	ENSP00000369445:p.Cys178Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C173S	NM_198689	NP_941962	P60409	KR107_HUMAN			2	542	+			178			13.|30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.517T>A		.	.	.	.	.	.	.	.	.	.	N	2.398	-0.338308	0.05243	.	.	ENSG00000205441	ENST00000380102	T	0.00678	5.87	2.8	-5.61	0.02489	.	.	.	.	.	T	0.00496	0.0016	L	0.32530	0.975	0.09310	N	1	P	0.40282	0.711	B	0.36885	0.235	T	0.46871	-0.9160	9	0.05721	T	0.95	.	2.7545	0.05289	0.282:0.3376:0.0:0.3804	.	173	P60409-2	.	S	178	ENSP00000369445:C178S	ENSP00000369445:C178S	C	+	1	0	KRTAP10-7	44845481	0.910000	0.30920	0.000000	0.03702	0.024000	0.10985	0.538000	0.23160	-1.121000	0.02949	0.254000	0.18369	TGC		0.637	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		20	38	0	0	0	0.004878	0	20	38				
CCT8L2	150160	broad.mit.edu	37	22	17073318	17073318	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:17073318C>T	ENST00000359963.3	-	1	382	c.123G>A	c.(121-123)caG>caA	p.Q41Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	41					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCAGGGTCTGGACTGCAG	0.647																																							uc002zlp.1		NA																	0				ovary(1)	1						c.(121-123)CAG>CAA		T-complex protein 1							61.0	65.0	64.0					22																	17073318		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073318C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.123G>A	22.37:g.17073318C>T							p.Q41Q	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	383	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	41					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.123G>A	CCDS13738.1																																																																																				0.647	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			10	40	0	0	0	0.006214	0	10	40				
CECR5	27440	broad.mit.edu	37	22	17630584	17630584	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:17630584C>T	ENST00000336737.4	-	2	203	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	CECR5_ENST00000155674.5_Missense_Mutation_p.G30S|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	60						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				ACTCTGTGGCCCCGCACAAGC	0.532																																							uc002zmf.2		NA																	0					0						c.(178-180)GGC>AGC		cat eye syndrome chromosome region, candidate 5							90.0	92.0	91.0					22																	17630584		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17630584C>T	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.178G>A	22.37:g.17630584C>T	ENSP00000337358:p.Gly60Ser					CECR5_uc002zme.2_5'Flank|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.G30S	p.G60S	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			2	206	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	60					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.178G>A	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519359	0.96416	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.36699	1.24;1.24	4.8	4.8	0.61643	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.943;1.0	T	0.66763	-0.5841	10	0.44086	T	0.13	-22.6134	18.0527	0.89354	0.0:1.0:0.0:0.0	.	30;60	Q9BXW7-2;Q9BXW7	.;CECR5_HUMAN	S	30;60	ENSP00000155674:G30S;ENSP00000337358:G60S	ENSP00000155674:G30S	G	-	1	0	CECR5	16010584	1.000000	0.71417	0.938000	0.37757	0.943000	0.58893	7.285000	0.78660	2.496000	0.84212	0.561000	0.74099	GGC		0.532	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		17	47	0	0	0	0.007413	0	17	47				
SLC25A18	83733	broad.mit.edu	37	22	18070036	18070036	+	Missense_Mutation	SNP	C	C	T	rs374895319		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:18070036C>T	ENST00000327451.6	+	8	1082	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F	SLC25A18_ENST00000399813.1_Missense_Mutation_p.L182F|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	182						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CCTGGCTGGGCTCTACAGGGG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16624	0.0		0.0	False		,,,				2504	0.0				Colon(118;1560 1625 18964 29606 50093)	Colon(118;1560 1625 18964 29606 50093)	uc002zmp.1		NA																	0					0						c.(544-546)CTC>TTC		solute carrier	L-Glutamic Acid(DB00142)	C	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	61.0	61.0	61.0		544	5.1	1.0	22		61	0,8600		0,0,4300	no	missense	SLC25A18	NM_031481.1	22	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	182/316	18070036	1,13005	2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18070036C>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.544C>T	22.37:g.18070036C>T	ENSP00000329033:p.Leu182Phe					SLC25A18_uc010gqx.2_Missense_Mutation_p.L182F|SLC25A18_uc002zmq.1_Missense_Mutation_p.L182F	p.L182F	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	8	1038	+			182			Solcar 2.			Missense_Mutation	SNP	ENST00000327451.6	37	c.544C>T	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417887	0.83449	2.27E-4	0.0	ENSG00000182902	ENST00000327451;ENST00000399813	D;D	0.83506	-1.73;-1.73	5.1	5.1	0.69264	Mitochondrial carrier domain (2);	0.060797	0.64402	D	0.000002	D	0.87470	0.6185	M	0.69823	2.125	0.58432	D	0.999999	P	0.49253	0.921	P	0.56278	0.795	D	0.88115	0.2828	10	0.66056	D	0.02	.	11.2567	0.49058	0.0:0.9137:0.0:0.0863	.	182	Q9H1K4	GHC2_HUMAN	F	182	ENSP00000329033:L182F;ENSP00000382710:L182F	ENSP00000329033:L182F	L	+	1	0	SLC25A18	16450036	1.000000	0.71417	0.991000	0.47740	0.838000	0.47535	4.452000	0.60054	2.551000	0.86045	0.485000	0.47835	CTC		0.652	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		12	48	0	0	0	0.004007	0	12	48				
BCR	613	broad.mit.edu	37	22	23523546	23523546	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:23523546G>T	ENST00000305877.8	+	1	1150	c.399G>T	c.(397-399)agG>agT	p.R133S	BCR_ENST00000398512.5_Missense_Mutation_p.R133S|BCR_ENST00000359540.3_Missense_Mutation_p.R133S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	133	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCGCCCGCAGGCCCGGGGCAG	0.801			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																		uc002zww.2		NA		Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	0				haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(397-399)AGG>AGT		breakpoint cluster region isoform 1							6.0	8.0	7.0					22																	23523546		1423	3109	4532	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523546G>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.399G>T	22.37:g.23523546G>T	ENSP00000303507:p.Arg133Ser					BCR_uc002zwx.2_Missense_Mutation_p.R133S	p.R133S	NM_004327	NP_004318	P11274	BCR_HUMAN			1	995	+			133			Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.399G>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623649	0.14193	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.44482	1.76;1.75;0.92	4.2	-5.11	0.02901	.	0.325477	0.26321	U	0.025048	T	0.15609	0.0376	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.33497	-0.9866	10	0.07030	T	0.85	.	5.8087	0.18454	0.3131:0.3644:0.3224:0.0	.	133;133	P11274-2;P11274	.;BCR_HUMAN	S	133	ENSP00000303507:R133S;ENSP00000352535:R133S;ENSP00000381524:R133S	ENSP00000290956:R133S	R	+	3	2	BCR	21853546	0.015000	0.18098	0.001000	0.08648	0.006000	0.05464	-0.144000	0.10280	-0.614000	0.05687	-0.312000	0.09012	AGG		0.801	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		4	12	1	0	0.00909568	0.009096	0.00964006	4	12				
SEZ6L	23544	broad.mit.edu	37	22	26701995	26701995	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:26701995C>A	ENST00000248933.6	+	6	1494	c.1399C>A	c.(1399-1401)Cca>Aca	p.P467T	SEZ6L_ENST00000404234.3_Missense_Mutation_p.P467T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P467T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P240T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P467T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P240T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P467T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	467	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGTCCTCTCCCCAAGTTACCC	0.572																																							uc003acb.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1399-1401)CCA>ACA		seizure related 6 homolog (mouse)-like							76.0	70.0	72.0					22																	26701995		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26701995C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1399C>A	22.37:g.26701995C>A	ENSP00000248933:p.Pro467Thr					SEZ6L_uc003acc.2_Missense_Mutation_p.P467T|SEZ6L_uc011akc.1_Missense_Mutation_p.P467T|SEZ6L_uc003acd.2_Missense_Mutation_p.P467T|SEZ6L_uc011akd.1_Missense_Mutation_p.P467T|SEZ6L_uc003ace.2_Missense_Mutation_p.P467T|SEZ6L_uc003acf.1_Missense_Mutation_p.P240T|SEZ6L_uc010gvc.1_Missense_Mutation_p.P240T	p.P467T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			6	1555	+			467			CUB 2.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1399C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808012	0.70797	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.86	4.86	0.63082	CUB (5);	0.000000	0.56097	D	0.000029	T	0.71417	0.3337	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;1.0;1.0	T	0.78568	-0.2154	10	0.87932	D	0	.	17.1957	0.86892	0.0:1.0:0.0:0.0	.	467;467;240;467;467;467;467	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	T	467;467;467;467;467;240;240	ENSP00000384772:P467T;ENSP00000437037:P467T;ENSP00000354185:P467T;ENSP00000248933:P467T;ENSP00000342661:P467T;ENSP00000384838:P240T;ENSP00000384733:P240T	ENSP00000248933:P467T	P	+	1	0	SEZ6L	25031995	1.000000	0.71417	0.996000	0.52242	0.480000	0.33159	7.144000	0.77357	2.537000	0.85549	0.655000	0.94253	CCA		0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	28	1	0	0.000157383	0.00308	0.000182879	7	28				
LIMK2	3985	broad.mit.edu	37	22	31668610	31668610	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:31668610G>A	ENST00000331728.4	+	13	1592	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	LIMK2_ENST00000340552.4_Missense_Mutation_p.R472H|LIMK2_ENST00000406516.1_Missense_Mutation_p.R415H|LIMK2_ENST00000333611.4_Missense_Mutation_p.R472H|LIMK2_ENST00000444929.2_Missense_Mutation_p.R247H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACCAAGAAACGCACCTTGCGC	0.582																																							uc003akh.2		NA																	0				ovary(2)	2						c.(1477-1479)CGC>CAC		LIM domain kinase 2 isoform 2a							97.0	88.0	91.0					22																	31668610		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31668610G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1478G>A	22.37:g.31668610G>A	ENSP00000332687:p.Arg493His					LIMK2_uc003akg.2_Missense_Mutation_p.R410H|LIMK2_uc003aki.2_Missense_Mutation_p.R247H|LIMK2_uc003akj.2_Missense_Mutation_p.R472H|LIMK2_uc003akk.2_Missense_Mutation_p.R472H|LIMK2_uc011aln.1_Missense_Mutation_p.R410H	p.R493H	NM_005569	NP_005560	P53671	LIMK2_HUMAN			13	1623	+			493			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1478G>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	35	5.546558	0.96488	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T;T	0.76316	-1.01;-0.99;-0.88;-0.94;-0.99	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050782	0.85682	D	0.000000	D	0.84570	0.5501	L	0.46670	1.46	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.997;0.997;0.972;1.0	P;D;D;P;D	0.66084	0.707;0.93;0.941;0.86;0.938	D	0.83423	0.0034	10	0.46703	T	0.11	-5.5171	19.2429	0.93891	0.0:0.0:1.0:0.0	.	525;472;247;493;415	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	H	415;247;493;525;472;472	ENSP00000384602:R415H;ENSP00000409522:R247H;ENSP00000332687:R493H;ENSP00000330470:R472H;ENSP00000339916:R472H	ENSP00000332687:R493H	R	+	2	0	LIMK2	29998610	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.346000	0.79347	2.796000	0.96246	0.447000	0.29281	CGC		0.582	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		3	22	0	0	0	0.004672	0	3	22				
KIAA1644	85352	broad.mit.edu	37	22	44692601	44692601	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:44692601C>G	ENST00000381176.4	-	3	364	c.232G>C	c.(232-234)Gcg>Ccg	p.A78P		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	78						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGCATCACCGCCTGGAACTCC	0.597																																							uc003bet.2		NA																	0				ovary(1)	1						c.(232-234)GCG>CCG		hypothetical protein LOC85352 precursor							122.0	136.0	131.0					22																	44692601		2148	4252	6400	SO:0001583	missense	85352					integral to membrane		g.chr22:44692601C>G	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.232G>C	22.37:g.44692601C>G	ENSP00000370568:p.Ala78Pro						p.A78P	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			3	365	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	78			Extracellular (Potential).		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.232G>C	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982755	0.74474	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.41	5.41	0.78517	.	0.214739	0.41712	D	0.000839	T	0.32526	0.0832	N	0.19112	0.55	0.32839	D	0.505152	D	0.53151	0.958	P	0.47981	0.563	T	0.48736	-0.9009	8	0.59425	D	0.04	-29.1088	7.9307	0.29901	0.0:0.8245:0.0:0.1755	.	78	Q3SXP7	K1644_HUMAN	P	78	.	ENSP00000370568:A78P	A	-	1	0	KIAA1644	43023934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.471000	0.60182	2.531000	0.85337	0.561000	0.74099	GCG		0.597	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		38	98	0	0	0	0.006999	0	38	98				
SBF1	6305	broad.mit.edu	37	22	50894717	50894717	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:50894717T>A	ENST00000390679.3	-	30	4300	c.4116A>T	c.(4114-4116)ccA>ccT	p.P1372P	SBF1_ENST00000380817.3_Silent_p.P1398P|SBF1_ENST00000348911.6_Silent_p.P1373P|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1372	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGGCAGCCTGGGACACATG	0.637																																							uc003blh.2		NA																	0					0						c.(4192-4194)CCA>CCT		SET binding factor 1							33.0	39.0	37.0					22																	50894717		2140	4230	6370	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50894717T>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4116A>T	22.37:g.50894717T>A						SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Silent_p.P1036P	p.P1398P	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	31	4389	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1372			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.4194A>T																																																																																					0.637	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	12	0	0	0	0.009096	0	4	12				
TADA3	10474	broad.mit.edu	37	3	9832953	9832953	+	Silent	SNP	G	G	C	rs139007937		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:9832953G>C	ENST00000301964.2	-	2	756	c.198C>G	c.(196-198)gcC>gcG	p.A66A	TADA3_ENST00000492635.1_5'UTR|ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000440161.1_Silent_p.A66A|ARPC4_ENST00000433034.1_5'Flank|ARPC4-TTLL3_ENST00000397256.1_5'Flank|ARPC4_ENST00000287613.7_5'Flank|TADA3_ENST00000343450.2_Silent_p.A66A|ARPC4_ENST00000498623.2_5'Flank	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	66					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTGGGTTTCGGCCTCAAGCA	0.592																																							uc003bsx.1		NA																	0					0						c.(196-198)GCC>GCG		transcriptional adaptor 3 isoform a							35.0	38.0	37.0					3																	9832953		2203	4300	6503	SO:0001819	synonymous_variant	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9832953G>C	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.198C>G	3.37:g.9832953G>C						TADA3_uc010hcn.1_Silent_p.A66A|TADA3_uc003bsy.2_Silent_p.A66A|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	p.A66A	NM_006354	NP_006345	O75528	TADA3_HUMAN			2	746	-			66			Potential.		Q6FI83|Q9UFS2	Silent	SNP	ENST00000301964.2	37	c.198C>G	CCDS2583.1																																																																																				0.592	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			7	20	0	0	0	0.00308	0	7	20				
CIDEC	63924	broad.mit.edu	37	3	9911574	9911574	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:9911574G>A	ENST00000336832.2	-	5	685	c.546C>T	c.(544-546)cgC>cgT	p.R182R	CIDEC_ENST00000423850.1_Silent_p.R108R|CIDEC_ENST00000455015.1_Silent_p.R108R|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Silent_p.R192R	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	182					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					ACTTCATGATGCGCTTGGCCC	0.532																																							uc003btq.2		NA																	0				central_nervous_system(1)	1						c.(544-546)CGC>CGT		cell death-inducing DFFA-like effector c							56.0	52.0	54.0					3																	9911574		2203	4300	6503	SO:0001819	synonymous_variant	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911574G>A		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.546C>T	3.37:g.9911574G>A						CIDEC_uc003bto.2_Intron|CIDEC_uc010hcp.2_Intron|CIDEC_uc003btp.2_Silent_p.R192R|CIDEC_uc003btr.2_Silent_p.R108R|CIDEC_uc003bts.2_Silent_p.R108R	p.R182R	NM_022094	NP_071377	Q96AQ7	CIDEC_HUMAN			5	686	-	Medulloblastoma(99;0.227)		182					C9JMN7|Q67DW9|Q9GZY9	Silent	SNP	ENST00000336832.2	37	c.546C>T	CCDS2587.1																																																																																				0.532	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		8	31	0	0	0	0.00308	0	8	31				
IQSEC1	9922	broad.mit.edu	37	3	12950017	12950017	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:12950017C>G	ENST00000273221.4	-	12	2845	c.2629G>C	c.(2629-2631)Gag>Cag	p.E877Q		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	877					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCTGCTTCTCGAGCTCCGCT	0.627																																							uc003bxt.2		NA																	0				ovary(1)	1						c.(2629-2631)GAG>CAG		IQ motif and Sec7 domain 1 isoform b							65.0	73.0	70.0					3																	12950017		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12950017C>G	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2629G>C	3.37:g.12950017C>G	ENSP00000273221:p.Glu877Gln					IQSEC1_uc003bxu.3_Missense_Mutation_p.E755Q|IQSEC1_uc011auw.1_Missense_Mutation_p.E863Q	p.E877Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			12	2638	-			877			Potential.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2629G>C	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.030332|4.030332	0.75504|0.75504	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|.	0.50277|.	0.75;0.75|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74199|0.74199	0.3685|0.3685	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P;D;P|.	0.71674|.	0.789;0.998;0.789|.	P;D;B|.	0.68621|.	0.474;0.959;0.397|.	T|T	0.73767|0.73767	-0.3879|-0.3879	9|4	0.59425|.	D|.	0.04|.	.|.	18.2561|18.2561	0.90020|0.90020	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	863;863;877|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	Q|P	877;863;863|877	ENSP00000273221:E877Q;ENSP00000402299:E863Q|.	ENSP00000273221:E877Q|.	E|R	-|-	1|2	0|0	IQSEC1|IQSEC1	12925017|12925017	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.420000|0.420000	0.31355|0.31355	6.085000|6.085000	0.71343|0.71343	2.308000|2.308000	0.77769|0.77769	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.627	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		41	64	0	0	0	0.009718	0	41	64				
GRIP2	80852	broad.mit.edu	37	3	14583449	14583449	+	RNA	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:14583449G>C	ENST00000273083.3	-	0	0							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTTCACCAGGGCACAGAGG	0.587																																							uc011avi.1		NA																	0				pancreas(1)	1						c.(139-141)CCT>CGT		glutamate receptor interacting protein 2							36.0	40.0	39.0					3																	14583449		2026	4165	6191			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14583449G>C	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14583449G>C						GRIP2_uc011avh.1_5'Flank|GRIP2_uc003byv.1_5'Flank	p.P47R	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			1	140	-			Error:Variant_position_missing_in_Q9C0E4_after_alignment					Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.140C>G																																																																																					0.587	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		3	3	0	0	0	0.004672	0	3	3				
KCNH8	131096	broad.mit.edu	37	3	19389399	19389399	+	Silent	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:19389399G>C	ENST00000328405.2	+	5	1019	c.753G>C	c.(751-753)ctG>ctC	p.L251L	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	251					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGACGACCTGTCCACAACTC	0.423																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(751-753)CTG>CTC		potassium voltage-gated channel, subfamily H,							159.0	143.0	148.0					3																	19389399		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19389399G>C	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.753G>C	3.37:g.19389399G>C						KCNH8_uc011awe.1_Silent_p.L251L|KCNH8_uc010hex.1_5'UTR	p.L251L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			5	948	+			251			Extracellular (Potential).		B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.753G>C	CCDS2632.1																																																																																				0.423	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		19	48	0	0	0	0.007413	0	19	48				
KCNH8	131096	broad.mit.edu	37	3	19559492	19559492	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:19559492C>G	ENST00000328405.2	+	15	2811	c.2545C>G	c.(2545-2547)Cca>Gca	p.P849A		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	849					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTTTCAGATCCAGAGATTGG	0.413																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(2545-2547)CCA>GCA		potassium voltage-gated channel, subfamily H,							124.0	123.0	123.0					3																	19559492		2203	4299	6502	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19559492C>G	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2545C>G	3.37:g.19559492C>G	ENSP00000328813:p.Pro849Ala					KCNH8_uc010hex.1_Missense_Mutation_p.P310A	p.P849A	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	2740	+			849			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2545C>G	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483789	0.26598	.	.	ENSG00000183960	ENST00000328405	D	0.98512	-4.97	5.66	2.69	0.31865	.	0.693981	0.10791	U	0.633753	D	0.95043	0.8395	L	0.47716	1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.90041	0.4142	9	.	.	.	.	2.369	0.04326	0.1307:0.4783:0.2194:0.1716	.	849	Q96L42	KCNH8_HUMAN	A	849	ENSP00000328813:P849A	.	P	+	1	0	KCNH8	19534496	0.022000	0.18835	1.000000	0.80357	0.870000	0.49936	0.068000	0.14531	0.833000	0.34828	0.650000	0.86243	CCA		0.413	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		12	29	0	0	0	0.001855	0	12	29				
KCNH8	131096	broad.mit.edu	37	3	19575573	19575573	+	Missense_Mutation	SNP	C	C	A	rs74606615		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:19575573C>A	ENST00000328405.2	+	16	3572	c.3306C>A	c.(3304-3306)aaC>aaA	p.N1102K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1102					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGAAAGATAACAAAGCCATAA	0.438																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(3304-3306)AAC>AAA		potassium voltage-gated channel, subfamily H,							28.0	29.0	29.0					3																	19575573		2198	4298	6496	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575573C>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3306C>A	3.37:g.19575573C>A	ENSP00000328813:p.Asn1102Lys					KCNH8_uc010hex.1_Missense_Mutation_p.N563K	p.N1102K	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			16	3501	+			1102			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.3306C>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	9.999	1.233057	0.22626	.	.	ENSG00000183960	ENST00000328405	D	0.98512	-4.97	5.61	-0.978	0.10279	.	0.463268	0.14926	U	0.290344	D	0.93318	0.7870	N	0.19112	0.55	0.19775	N	0.999958	B	0.12630	0.006	B	0.14023	0.01	D	0.85069	0.0939	9	.	.	.	.	8.5194	0.33266	0.0:0.5858:0.108:0.3062	.	1102	Q96L42	KCNH8_HUMAN	K	1102	ENSP00000328813:N1102K	.	N	+	3	2	KCNH8	19550577	0.002000	0.14202	0.014000	0.15608	0.985000	0.73830	-0.162000	0.10012	-0.549000	0.06191	0.655000	0.94253	AAC		0.438	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		9	10	1	0	0.000442599	0.006214	0.000502282	9	10				
FBXL2	25827	broad.mit.edu	37	3	33419616	33419616	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:33419616A>C	ENST00000484457.1	+	12	962	c.871A>C	c.(871-873)Atg>Ctg	p.M291L	FBXL2_ENST00000538181.1_Missense_Mutation_p.M207L|FBXL2_ENST00000507198.1_Missense_Mutation_p.M223L|FBXL2_ENST00000542085.1_Start_Codon_SNP_p.M1L|FBXL2_ENST00000446237.3_Start_Codon_SNP_p.M1L|FBXL2_ENST00000538892.1_Missense_Mutation_p.M223L|FBXL2_ENST00000283627.6_3'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATTGGAGAAGATGGATCTTGA	0.542																																							uc003cfp.2		NA																	0				large_intestine(1)	1						c.(871-873)ATG>CTG		F-box and leucine-rich repeat protein 2							185.0	156.0	166.0					3																	33419616		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33419616A>C	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.871A>C	3.37:g.33419616A>C	ENSP00000417601:p.Met291Leu					FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.M186L|FBXL2_uc011axp.1_Missense_Mutation_p.M207L|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	p.M291L	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN			12	942	+			291			LRR 9.			Missense_Mutation	SNP	ENST00000484457.1	37	c.871A>C	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944318	0.53079	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000446237;ENST00000507198;ENST00000542085	T;T;T;T;T;T	0.24908	2.83;4.3;2.83;1.83;4.3;3.4	4.67	4.67	0.58626	.	0.041245	0.85682	N	0.000000	T	0.10035	0.0246	N	0.02345	-0.59	0.80722	D	1	B;B	0.22146	0.032;0.065	B;B	0.23852	0.039;0.049	T	0.13737	-1.0498	10	0.02654	T	1	.	14.8702	0.70450	1.0:0.0:0.0:0.0	.	207;291	B4E1B8;Q9UKC9	.;FBXL2_HUMAN	L	291;223;207;1;223;1	ENSP00000417601:M291L;ENSP00000441228:M223L;ENSP00000440794:M207L;ENSP00000389251:M1L;ENSP00000426163:M223L;ENSP00000445039:M1L	ENSP00000389251:M1L	M	+	1	0	FBXL2	33394620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.149000	0.94659	2.053000	0.61076	0.529000	0.55759	ATG		0.542	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		16	22	0	0	0	0.003163	0	16	22				
TRANK1	9881	broad.mit.edu	37	3	36896947	36896947	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:36896947C>G	ENST00000429976.2	-	12	4381	c.4134G>C	c.(4132-4134)tcG>tcC	p.S1378S	TRANK1_ENST00000301807.6_Silent_p.S828S|TRANK1_ENST00000428977.2_Silent_p.S828S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1378							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCTGAGCTTCGACAGCCTCC	0.493																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2482-2484)TCG>TCC		lupus brain antigen 1							123.0	126.0	125.0					3																	36896947		2054	4196	6250	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896947C>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4134G>C	3.37:g.36896947C>G							p.S828S	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2786	-			1378					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.2484G>C	CCDS46789.2																																																																																				0.493	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		38	69	0	0	0	0.003755	0	38	69				
TRANK1	9881	broad.mit.edu	37	3	36899193	36899193	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:36899193C>A	ENST00000429976.2	-	12	2135	c.1888G>T	c.(1888-1890)Ggt>Tgt	p.G630C	TRANK1_ENST00000301807.6_Missense_Mutation_p.G80C|TRANK1_ENST00000428977.2_Missense_Mutation_p.G80C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	630							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATGTGTGACCAGGGGCAGTG	0.577																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(238-240)GGT>TGT		lupus brain antigen 1							106.0	109.0	108.0					3																	36899193		2026	4187	6213	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36899193C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1888G>T	3.37:g.36899193C>A	ENSP00000416168:p.Gly630Cys						p.G80C	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	540	-			630					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.238G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889983	0.52014	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.22134	1.97;1.97;1.97	5.19	3.34	0.38264	.	0.582788	0.15561	N	0.255936	T	0.27419	0.0673	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.58013	0.831	T	0.05053	-1.0909	10	0.66056	D	0.02	.	8.8032	0.34920	0.315:0.6092:0.0:0.0758	.	630	O15050	TRNK1_HUMAN	C	80;630;80	ENSP00000416826:G80C;ENSP00000416168:G630C;ENSP00000301807:G80C	ENSP00000301807:G80C	G	-	1	0	TRANK1	36874197	0.028000	0.19301	0.006000	0.13384	0.043000	0.13939	1.350000	0.34010	0.808000	0.34231	0.650000	0.86243	GGT		0.577	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		27	62	1	0	6.32553e-13	0.004656	1.04402e-12	27	62				
XYLB	9942	broad.mit.edu	37	3	38404451	38404451	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:38404451G>C	ENST00000207870.3	+	4	324	c.234G>C	c.(232-234)aaG>aaC	p.K78N	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	78					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCTTGGAGAAGATGAAGGCTT	0.512																																							uc003cic.2		NA																	0				ovary(1)	1						c.(232-234)AAG>AAC		xylulokinase							148.0	147.0	147.0					3																	38404451		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38404451G>C	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.234G>C	3.37:g.38404451G>C	ENSP00000207870:p.Lys78Asn					XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR	p.K78N	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	4	343	+			78					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.234G>C	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927864	0.73327	.	.	ENSG00000093217	ENST00000207870	T	0.45668	0.89	5.14	4.24	0.50183	Carbohydrate kinase, FGGY, N-terminal (1);	0.252314	0.44285	N	0.000462	T	0.48874	0.1524	M	0.78916	2.43	0.80722	D	1	P	0.36633	0.562	P	0.44477	0.451	T	0.49986	-0.8880	10	0.49607	T	0.09	.	7.3085	0.26461	0.0907:0.173:0.7363:0.0	.	78	O75191	XYLB_HUMAN	N	78	ENSP00000207870:K78N	ENSP00000207870:K78N	K	+	3	2	XYLB	38379455	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.263000	0.51546	1.255000	0.44051	0.455000	0.32223	AAG		0.512	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		22	51	0	0	0	0.002299	0	22	51				
SCN11A	11280	broad.mit.edu	37	3	38888354	38888354	+	Missense_Mutation	SNP	C	C	A	rs143852849	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:38888354C>A	ENST00000302328.3	-	26	5405	c.5207G>T	c.(5206-5208)gGt>gTt	p.G1736V	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1698V|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1736V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1736					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATAGCAGCACCTCTTTCCTC	0.443																																							uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(5206-5208)GGT>GTT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)	C	VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	279.0	264.0	269.0		5207	4.5	0.0	3	dbSNP_134	269	12,8588	9.1+/-34.3	0,12,4288	yes	missense	SCN11A	NM_014139.2	109	0,13,6490	AA,AC,CC		0.1395,0.0227,0.1	benign	1736/1792	38888354	13,12993	2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888354C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5207G>T	3.37:g.38888354C>A	ENSP00000307599:p.Gly1736Val						p.G1736V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5406	-			1736					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.5207G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568309	0.28003	2.27E-4	0.001395	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96011	-3.88;-3.88;-3.83	5.41	4.53	0.55603	.	0.310059	0.35739	N	0.003012	D	0.91205	0.7229	N	0.22421	0.69	0.26116	N	0.980618	B	0.15473	0.013	B	0.14023	0.01	D	0.84588	0.0665	10	0.87932	D	0	.	14.3935	0.66996	0.0:0.5548:0.4452:0.0	.	1736	Q9UI33	SCNBA_HUMAN	V	1736;1736;1698	ENSP00000307599:G1736V;ENSP00000400945:G1736V;ENSP00000416757:G1698V	ENSP00000307599:G1736V	G	-	2	0	SCN11A	38863358	0.968000	0.33430	0.028000	0.17463	0.546000	0.35178	5.613000	0.67688	1.238000	0.43771	0.650000	0.86243	GGT		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		18	62	1	0	3.32936e-07	0.006122	4.48132e-07	18	62				
SCN11A	11280	broad.mit.edu	37	3	38888539	38888539	+	Missense_Mutation	SNP	C	C	A	rs148011334		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:38888539C>A	ENST00000302328.3	-	26	5220	c.5022G>T	c.(5020-5022)atG>atT	p.M1674I	SCN11A_ENST00000456224.3_Missense_Mutation_p.M1636I|SCN11A_ENST00000450244.1_Missense_Mutation_p.M1674I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1674					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCACTCACCATGGGCAAGT	0.463																																							uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(5020-5022)ATG>ATT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						94.0	97.0	96.0					3																	38888539		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888539C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5022G>T	3.37:g.38888539C>A	ENSP00000307599:p.Met1674Ile						p.M1674I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5221	-			1674					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.5022G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194671	0.38806	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.95885	-3.84;-3.84;-3.83	5.46	5.46	0.80206	.	0.084180	0.85682	D	0.000000	D	0.92163	0.7515	L	0.39692	1.235	0.39952	D	0.974558	B	0.12630	0.006	B	0.09377	0.004	D	0.89108	0.3494	10	0.46703	T	0.11	.	13.0542	0.58971	0.0:0.9167:0.0:0.0833	.	1674	Q9UI33	SCNBA_HUMAN	I	1674;1674;1636	ENSP00000307599:M1674I;ENSP00000400945:M1674I;ENSP00000416757:M1636I	ENSP00000307599:M1674I	M	-	3	0	SCN11A	38863543	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.636000	0.24644	2.544000	0.85801	0.650000	0.86243	ATG		0.463	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		9	38	1	0	2.17888e-05	0.006214	2.68607e-05	9	38				
ACKR2	1238	broad.mit.edu	37	3	42906417	42906417	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:42906417C>A	ENST00000422265.1	+	3	598	c.423C>A	c.(421-423)gaC>gaA	p.D141E	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.D141E|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.D141E	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	141					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TGAGCCTGGACAAGTACCTGG	0.517																																							uc003cme.2		NA																	0				lung(4)|skin(1)	5						c.(421-423)GAC>GAA		chemokine binding protein 2							121.0	123.0	122.0					3																	42906417		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906417C>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.423C>A	3.37:g.42906417C>A	ENSP00000416996:p.Asp141Glu					CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.D141E|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.D141E	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	602	+			141			Cytoplasmic (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.423C>A	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806356	0.70682	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	D;D;D	0.83755	-1.76;-1.76;-1.76	5.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.118903	0.36555	N	0.002537	D	0.86481	0.5943	M	0.79011	2.435	0.80722	D	1	P	0.49862	0.929	P	0.52672	0.706	D	0.86533	0.1823	9	.	.	.	.	10.6153	0.45447	0.0:0.8677:0.0:0.1323	.	141	O00590	CCBP2_HUMAN	E	141	ENSP00000396150:D141E;ENSP00000416996:D141E;ENSP00000273145:D141E	.	D	+	3	2	CCBP2	42881421	0.009000	0.17119	1.000000	0.80357	0.993000	0.82548	0.085000	0.14912	2.417000	0.82017	0.563000	0.77884	GAC		0.517	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		21	90	1	0	1.22574e-08	0.002299	1.77341e-08	21	90				
UQCRC1	7384	broad.mit.edu	37	3	48643287	48643287	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:48643287C>T	ENST00000203407.5	-	3	629	c.213G>A	c.(211-213)gtG>gtA	p.V71V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	71					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCACACTCCCACCTGGTCAA	0.517																																					NSCLC(81;1112 1427 27031 32409 45529)	NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1		NA																	0					0						c.(211-213)GTG>GTA		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						101.0	98.0	99.0					3																	48643287		2203	4300	6503	SO:0001819	synonymous_variant	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48643287C>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.213G>A	3.37:g.48643287C>T						UQCRC1_uc003cua.1_5'UTR|UQCRC1_uc003cuc.1_Silent_p.V71V|UQCRC1_uc003cud.1_Silent_p.V71V	p.V71V	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	258	-			71					B2R7R8|Q96DD2	Silent	SNP	ENST00000203407.5	37	c.213G>A	CCDS2774.1																																																																																				0.517	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		12	37	0	0	0	0.001368	0	12	37				
NCKIPSD	51517	broad.mit.edu	37	3	48717147	48717147	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:48717147C>A	ENST00000294129.2	-	8	1470		c.e8-1		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCGGTGTTCCTGGCAGGGAA	0.582																																							uc003cun.2		NA																	0					0						c.e8-1		NCK interacting protein with SH3 domain isoform							100.0	88.0	92.0					3																	48717147		2203	4300	6503	SO:0001630	splice_region_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717147C>A	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1351-1G>T	3.37:g.48717147C>A						NCKIPSD_uc003cum.2_Splice_Site_p.E444_splice	p.E451_splice	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	8	1445	-								B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Splice_Site	SNP	ENST00000294129.2	37	c.1351_splice	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454113	0.43634	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000415281	.	.	.	4.91	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6759	0.62454	0.0:0.9251:0.0:0.0749	.	.	.	.	.	-1	.	.	.	-	.	.	NCKIPSD	48692151	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.711000	0.61881	1.424000	0.47217	0.655000	0.94253	.		0.582	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	Intron	8	18	1	0	0.000157383	0.00308	0.000182879	8	18				
LAMB2	3913	broad.mit.edu	37	3	49163401	49163401	+	Splice_Site	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:49163401C>T	ENST00000418109.1	-	18	2507	c.2343G>A	c.(2341-2343)ctG>ctA	p.L781L	LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Splice_Site_p.L781L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	781					astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACACTCACGCAGGGCACCAT	0.607																																							uc003cwe.2		NA																	0				ovary(3)	3						c.(2341-2343)CTG>CTA		laminin, beta 2 precursor							74.0	73.0	73.0					3																	49163401		2203	4300	6503	SO:0001630	splice_region_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49163401C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2344+1G>A	3.37:g.49163401C>T						LAMB2_uc003cwf.1_Silent_p.L781L	p.L781L	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	17	2642	-			781					Q16321	Silent	SNP	ENST00000418109.1	37	c.2343G>A	CCDS2789.1																																																																																				0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	Silent	9	32	0	0	0	0.006214	0	9	32				
BSN	8927	broad.mit.edu	37	3	49690234	49690234	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:49690234G>A	ENST00000296452.4	+	5	3359	c.3245G>A	c.(3244-3246)cGg>cAg	p.R1082Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1082					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAAGAACTGCGGGCCCAGCGG	0.657																																							uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3244-3246)CGG>CAG		bassoon protein							41.0	45.0	44.0					3																	49690234		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690234G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3245G>A	3.37:g.49690234G>A	ENSP00000296452:p.Arg1082Gln						p.R1082Q	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3359	+			1082			Potential.		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3245G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770042	0.69992	.	.	ENSG00000164061	ENST00000296452	T	0.27104	1.69	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.77313	2.365	0.46849	D	0.999228	D	0.89917	1.0	D	0.87578	0.998	T	0.58836	-0.7566	10	0.56958	D	0.05	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	1082	Q9UPA5	BSN_HUMAN	Q	1082	ENSP00000296452:R1082Q	ENSP00000296452:R1082Q	R	+	2	0	BSN	49665238	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.807000	0.99171	2.357000	0.79964	0.561000	0.74099	CGG		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	40	0	0	0	0.000602	0	5	40				
DOCK3	1795	broad.mit.edu	37	3	51399971	51399971	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:51399971A>T	ENST00000266037.9	+	49	5182	c.5159A>T	c.(5158-5160)aAc>aTc	p.N1720I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1720					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGTATCCCAACCCCAGGTAC	0.547																																							uc011bds.1		NA																	0					0						c.(5158-5160)AAC>ATC		dedicator of cytokinesis 3							118.0	123.0	121.0					3																	51399971		2052	4199	6251	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51399971A>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5159A>T	3.37:g.51399971A>T	ENSP00000266037:p.Asn1720Ile						p.N1720I	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5182	+			1720					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5159A>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342230	0.41498	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05025	3.51	5.26	2.87	0.33458	.	0.556796	0.20958	N	0.082608	T	0.04543	0.0124	N	0.22421	0.69	0.34028	D	0.653455	B	0.17465	0.022	B	0.12156	0.007	T	0.19192	-1.0313	10	0.36615	T	0.2	.	8.1606	0.31196	0.769:0.0:0.231:0.0	.	1720	Q8IZD9	DOCK3_HUMAN	I	1720;516	ENSP00000266037:N1720I	ENSP00000266037:N1720I	N	+	2	0	DOCK3	51375011	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.400000	0.44504	0.946000	0.37632	0.460000	0.39030	AAC		0.547	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		12	26	0	0	0	0.001855	0	12	26				
VPRBP	9730	broad.mit.edu	37	3	51458159	51458159	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:51458159C>A	ENST00000335891.5	-	7	927	c.918G>T	c.(916-918)cgG>cgT	p.R306R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	755	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGGCCAGGGCCCGGATTTGGT	0.552																																							uc003dbe.1		NA																	0				ovary(1)|skin(1)	2						c.(2263-2265)CGG>CGT		HIV-1 Vpr binding protein							146.0	141.0	143.0					3																	51458159		1997	4163	6160	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51458159C>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.918G>T	3.37:g.51458159C>A						VPRBP_uc003dbf.1_Silent_p.R31R	p.R755R	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	14	2433	-			755					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.2265G>T																																																																																					0.552	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		23	79	1	0	4.26978e-12	0.00333	6.84776e-12	23	79				
GRM2	2912	broad.mit.edu	37	3	51746995	51746995	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:51746995G>T	ENST00000395052.3	+	3	1191	c.957G>T	c.(955-957)ctG>ctT	p.L319L	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.L319L	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	319					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCATCGAGCTGGCCTCCTACC	0.612																																							uc010hlv.2		NA																	0				lung(1)	1						c.(955-957)CTG>CTT		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						60.0	52.0	55.0					3																	51746995		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746995G>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.957G>T	3.37:g.51746995G>T						GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.L319L	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1196	+			319			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.957G>T	CCDS2834.1																																																																																				0.612	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			10	24	1	0	1.04858e-14	0.006214	1.82082e-14	10	24				
PARP3	10039	broad.mit.edu	37	3	51981799	51981799	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:51981799C>G	ENST00000417220.2	+	11	1808	c.1320C>G	c.(1318-1320)ttC>ttG	p.F440L	PARP3_ENST00000431474.1_Missense_Mutation_p.F440L|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Missense_Mutation_p.F447L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	440	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTACATGTTCCTGGGTGAGG	0.612																																							uc003dby.2		NA																	0				ovary(1)	1						c.(1318-1320)TTC>TTG		poly (ADP-ribose) polymerase family, member 3							128.0	130.0	129.0					3																	51981799		2066	4206	6272	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51981799C>G	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1320C>G	3.37:g.51981799C>G	ENSP00000395951:p.Phe440Leu					PARP3_uc003dbz.2_Missense_Mutation_p.F447L	p.F440L	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	10	1691	+			440			PARP catalytic.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.1320C>G	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933166	0.52866	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.11495	2.77;2.77;2.77	5.2	4.33	0.51752	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	L	0.28400	0.85	0.52501	D	0.999955	D;D	0.67145	0.989;0.996	P;D	0.71870	0.778;0.975	T	0.11591	-1.0581	10	0.06891	T	0.86	-28.7796	9.7863	0.40677	0.0:0.8408:0.0:0.1592	.	447;440	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	L	440;440;447	ENSP00000395951:F440L;ENSP00000401511:F440L;ENSP00000381740:F447L	ENSP00000381740:F447L	F	+	3	2	PARP3	51956839	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.836000	0.39191	1.207000	0.43291	-0.258000	0.10820	TTC		0.612	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		25	64	0	0	0	0.00333	0	25	64				
DNAH1	25981	broad.mit.edu	37	3	52412653	52412653	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:52412653C>T	ENST00000420323.2	+	47	7495	c.7234C>T	c.(7234-7236)Ctt>Ttt	p.L2412F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2412	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACGGAGCCCCTTGTGGAAGC	0.617																																							uc011bef.1		NA																	0				large_intestine(3)	3						c.(7234-7236)CTT>TTT		dynein, axonemal, heavy chain 1							107.0	117.0	114.0					3																	52412653		2032	4199	6231	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52412653C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7234C>T	3.37:g.52412653C>T	ENSP00000401514:p.Leu2412Phe						p.L2412F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	47	7495	+			2412			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.7234C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992392	0.54041	.	.	ENSG00000114841	ENST00000420323	T	0.44881	0.91	5.11	5.11	0.69529	.	0.000000	0.37809	N	0.001937	T	0.56920	0.2018	M	0.86953	2.85	0.54753	D	0.999986	P	0.36125	0.538	P	0.44921	0.464	T	0.62101	-0.6925	10	0.54805	T	0.06	.	12.5072	0.55987	0.0:0.9133:0.0:0.0867	.	2412	C9JXH6	.	F	2412	ENSP00000401514:L2412F	ENSP00000401514:L2412F	L	+	1	0	DNAH1	52387693	0.999000	0.42202	0.974000	0.42286	0.924000	0.55760	2.330000	0.43885	2.652000	0.90054	0.563000	0.77884	CTT		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		31	93	0	0	0	0.008361	0	31	93				
GXYLT2	727936	broad.mit.edu	37	3	73016750	73016750	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:73016750G>T	ENST00000389617.4	+	6	1190	c.1029G>T	c.(1027-1029)atG>atT	p.M343I		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	343					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ATCACTGCATGTACGGAAGCA	0.502																																							uc003dpg.2		NA																	0					0						c.(1027-1029)ATG>ATT		glycosyltransferase 8 domain containing 4							99.0	97.0	98.0					3																	73016750		2053	4199	6252	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73016750G>T	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1029G>T	3.37:g.73016750G>T	ENSP00000374268:p.Met343Ile						p.M343I	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			6	1029	+			343			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000389617.4	37	c.1029G>T	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369966	0.42003	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.41065	1.01;1.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.26955	0.0660	N	0.10760	0.04	0.80722	D	1	B	0.20988	0.05	B	0.24701	0.055	T	0.11108	-1.0601	10	0.11485	T	0.65	.	19.7923	0.96464	0.0:0.0:1.0:0.0	.	343	A0PJZ3	GXLT2_HUMAN	I	343;104	ENSP00000374268:M343I;ENSP00000420426:M104I	ENSP00000374268:M343I	M	+	3	0	GXYLT2	73099440	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.590000	0.82653	2.752000	0.94435	0.557000	0.71058	ATG		0.502	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		3	15	1	0	0.00909568	0.009096	0.00964006	3	15				
ROBO1	6091	broad.mit.edu	37	3	79638972	79638972	+	Splice_Site	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:79638972A>T	ENST00000464233.1	-	2	202		c.e2+1			NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CACAGCACTTACCTGGAATAA	0.368																																							uc003dqe.2		NA																	0				large_intestine(2)	2						c.e2+1		roundabout 1 isoform a							146.0	142.0	143.0					3																	79638972		1897	4111	6008	SO:0001630	splice_region_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79638972A>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.88+1T>A	3.37:g.79638972A>T							p.D30_splice	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	296	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)						B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Splice_Site	SNP	ENST00000464233.1	37	c.88_splice	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333334	0.24167	.	.	ENSG00000169855	ENST00000464233;ENST00000398414	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4323	0.61062	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROBO1	79721662	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	6.015000	0.70791	1.995000	0.58328	0.455000	0.32223	.		0.368	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	Intron	21	42	0	0	0	0.002299	0	21	42				
VGLL3	389136	broad.mit.edu	37	3	87017913	87017913	+	Missense_Mutation	SNP	A	A	T	rs35544388		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:87017913A>T	ENST00000398399.2	-	3	1127	c.764T>A	c.(763-765)cTg>cAg	p.L255Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.L255Q	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GGATGGATCCAGGGCAGAGCC	0.587																																							uc003dqn.2		NA																	0					0						c.(763-765)CTG>CAG		colon carcinoma related protein							61.0	62.0	61.0					3																	87017913		2179	4270	6449	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017913A>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.764T>A	3.37:g.87017913A>T	ENSP00000381436:p.Leu255Gln						p.L255Q	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1128	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	255						Missense_Mutation	SNP	ENST00000398399.2	37	c.764T>A	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310026	0.60414	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.60171	0.24;0.21	5.88	5.88	0.94601	.	0.278349	0.22408	N	0.060442	T	0.70351	0.3214	M	0.62723	1.935	0.44337	D	0.997228	D	0.65815	0.995	D	0.64595	0.927	T	0.69390	-0.5158	10	0.39692	T	0.17	-8.1942	12.666	0.56842	0.8625:0.1375:0.0:0.0	.	255	A8MV65	VGLL3_HUMAN	Q	255	ENSP00000381436:L255Q;ENSP00000373199:L255Q	ENSP00000373199:L255Q	L	-	2	0	VGLL3	87100603	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.145000	0.50623	2.252000	0.74401	0.459000	0.35465	CTG		0.587	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		19	27	0	0	0	0.007413	0	19	27				
PROS1	5627	broad.mit.edu	37	3	93646175	93646175	+	Missense_Mutation	SNP	C	C	A	rs370320595|rs199469485		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:93646175C>A	ENST00000394236.3	-	2	469	c.153G>T	c.(151-153)caG>caT	p.Q51H	PROS1_ENST00000407433.1_De_novo_Start_OutOfFrame	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	51	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAAGATTACCCTGTTTGGTTT	0.398																																							uc003drb.3		NA																	0				large_intestine(1)	1						c.(151-153)CAG>CAT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						98.0	94.0	96.0					3																	93646175		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646175C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.153G>T	3.37:g.93646175C>A	ENSP00000377783:p.Gln51His					PROS1_uc010hoo.2_Translation_Start_Site|PROS1_uc003dqz.3_Translation_Start_Site	p.Q51H	NM_000313	NP_000304	P07225	PROS_HUMAN			2	494	-			51			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.153G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564370	0.65651	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99186	-5.53;-5.53	4.53	3.66	0.41972	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	1.030720	0.07650	N	0.931709	D	0.98375	0.9460	M	0.83603	2.65	0.80722	D	1	P	0.43231	0.801	B	0.42282	0.382	D	0.96835	0.9614	10	0.72032	D	0.01	.	7.6547	0.28369	0.0:0.7388:0.0:0.2612	.	51	P07225	PROS_HUMAN	H	51;83	ENSP00000377783:Q51H;ENSP00000330021:Q83H	ENSP00000330021:Q83H	Q	-	3	2	PROS1	95128865	0.977000	0.34250	0.973000	0.42090	0.986000	0.74619	0.588000	0.23924	1.269000	0.44280	0.448000	0.29417	CAG		0.398	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		16	34	1	0	6.72482e-11	0.003163	1.04404e-10	16	34				
OR5H6	79295	broad.mit.edu	37	3	97983944	97983944	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:97983944C>A	ENST00000383696.2	+	1	857	c.816C>A	c.(814-816)acC>acA	p.T272T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	272			T -> A (in dbSNP:rs9853906).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T272T(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCCCCCTCACCTTCAAATATC	0.408																																							uc003dsi.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(814-816)ACC>ACA		olfactory receptor, family 5, subfamily H,							57.0	56.0	56.0					3																	97983944		2203	4299	6502	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983944C>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.816C>A	3.37:g.97983944C>A							p.T272T	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	816	+			272			Helical; Name=6; (Potential).		Q6IF88	Silent	SNP	ENST00000383696.2	37	c.816C>A	CCDS33800.1																																																																																				0.408	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			7	33	1	0	8.12818e-05	0.001984	9.60912e-05	7	33				
ZBTB11	27107	broad.mit.edu	37	3	101384009	101384010	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:101384009_101384010CC>AA	ENST00000312938.4	-	4	2001_2002	c.1421_1422GG>TT	c.(1420-1422)aGG>aTT	p.R474I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAACTTTCTGCCTATGTTTTGG	0.396																																							uc003dve.3		NA																	0				skin(1)	1						c.(1420-1422)AGG>ATT		zinc finger protein ZNF-U69274																																				SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101384009_101384010CC>AA	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1421_1422delinsAA	3.37:g.101384009_101384010delinsAA	ENSP00000326200:p.Arg474Ile						p.R474I	NM_014415	NP_055230	O95625	ZBT11_HUMAN			4	1651_1652	-			474					Q2NKP9	Missense_Mutation	DNP	ENST00000312938.4	37	c.1421_1422GG>TT	CCDS2943.1																																																																																				0.396	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		26	76	0	0	0	0.004672	0	26	76				
CD200R1	131450	broad.mit.edu	37	3	112648206	112648206	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:112648206C>A	ENST00000471858.1	-	3	514	c.282G>T	c.(280-282)gaG>gaT	p.E94D	CD200R1_ENST00000308611.3_Missense_Mutation_p.E117D|CD200R1_ENST00000295863.4_Missense_Mutation_p.E72D|CD200R1_ENST00000490004.1_Missense_Mutation_p.E94D|CD200R1_ENST00000440122.2_Missense_Mutation_p.E117D	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	94	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTTCCTTGGTCTCATTTGTTT	0.448																																							uc003dzk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(280-282)GAG>GAT		CD200 receptor 1 isoform d							177.0	169.0	172.0					3																	112648206		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648206C>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.282G>T	3.37:g.112648206C>A	ENSP00000418928:p.Glu94Asp					CD200R1_uc003dzj.1_Missense_Mutation_p.E117D|CD200R1_uc011bhx.1_Missense_Mutation_p.E72D|CD200R1_uc003dzl.1_Missense_Mutation_p.E117D|CD200R1_uc003dzm.1_Missense_Mutation_p.E94D	p.E94D	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			3	515	-			94			Ig-like V-type.|Extracellular (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.282G>T	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876613	0.51801	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01	5.36	2.13	0.27403	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.205650	0.05631	N	0.581721	T	0.18923	0.0454	M	0.66939	2.045	0.09310	N	1	B;B;D;P;B	0.54964	0.091;0.081;0.969;0.816;0.189	B;B;P;B;B	0.53401	0.032;0.093;0.725;0.307;0.131	T	0.20042	-1.0287	10	0.25751	T	0.34	.	2.4745	0.04572	0.1989:0.5019:0.1919:0.1072	.	72;94;117;94;117	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	D	94;117;72;117;94	ENSP00000418928:E94D;ENSP00000311035:E117D;ENSP00000295863:E72D;ENSP00000405733:E117D;ENSP00000418801:E94D	ENSP00000295863:E72D	E	-	3	2	CD200R1	114130896	0.027000	0.19231	0.276000	0.24689	0.469000	0.32828	1.299000	0.33424	1.224000	0.43551	0.557000	0.71058	GAG		0.448	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		10	44	1	0	6.40141e-05	0.010729	7.65288e-05	10	44				
SPICE1	152185	broad.mit.edu	37	3	113188063	113188063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:113188063C>A	ENST00000295872.4	-	8	893	c.634G>T	c.(634-636)Gag>Tag	p.E212*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	212					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCAAAATTCTCTTCTGTTAGT	0.308																																							uc003eag.3		NA																	0					0						c.(634-636)GAG>TAG		coiled-coil domain containing 52							83.0	82.0	82.0					3																	113188063		2203	4300	6503	SO:0001587	stop_gained	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113188063C>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.634G>T	3.37:g.113188063C>A	ENSP00000295872:p.Glu212*					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Nonsense_Mutation_p.E108*	p.E212*	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			8	925	-			212					D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	c.634G>T	CCDS2973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.851340|5.851340	0.97023|0.97023	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000295872|ENST00000467618	.|.	.|.	.|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.442312|.	0.25878|.	N|.	0.027715|.	.|T	.|0.67353	.|0.2884	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71155	.|-0.4675	.|3	0.62326|.	D|.	0.03|.	-5.259|-5.259	15.6095|15.6095	0.76704|0.76704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	212|23	.|.	ENSP00000295872:E212X|.	E|K	-|-	1|3	0|2	SPICE1|SPICE1	114670753|114670753	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.589000|0.589000	0.36550|0.36550	4.323000|4.323000	0.59221|0.59221	2.413000|2.413000	0.81919|0.81919	0.591000|0.591000	0.81541|0.81541	GAG|AAG		0.308	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		12	33	1	0	4.36969e-10	0.001855	6.60896e-10	12	33				
ZNF80	7634	broad.mit.edu	37	3	113955509	113955509	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:113955509C>A	ENST00000482457.2	-	1	916	c.413G>T	c.(412-414)tGt>tTt	p.C138F	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	138					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)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGTCTTTCCACACTCGCTGCA	0.512																																					GBM(23;986 1114 21716)	GBM(23;986 1114 21716)	uc010hqo.2		NA																	0					0						c.(412-414)TGT>TTT		zinc finger protein 80							76.0	76.0	76.0					3																	113955509		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955509C>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.413G>T	3.37:g.113955509C>A	ENSP00000417192:p.Cys138Phe					ZNF80_uc003ebf.2_RNA	p.C138F	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	917	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	138			C2H2-type 4.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.413G>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043503	0.55003	.	.	ENSG00000174255	ENST00000482457	D	0.85861	-2.04	3.23	2.29	0.28610	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93736	0.7998	H	0.95780	3.72	0.22446	N	0.999094	D	0.89917	1.0	D	0.97110	1.0	D	0.84642	0.0696	9	0.87932	D	0	.	9.4689	0.38831	0.2132:0.7868:0.0:0.0	.	138	P51504	ZNF80_HUMAN	F	138	ENSP00000417192:C138F	ENSP00000309812:C138F	C	-	2	0	ZNF80	115438199	0.995000	0.38212	0.001000	0.08648	0.083000	0.17756	4.983000	0.63832	0.849000	0.35215	0.655000	0.94253	TGT		0.512	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		9	24	1	0	1.58986e-06	0.008291	2.08065e-06	9	24				
MAATS1	89876	broad.mit.edu	37	3	119445164	119445164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:119445164G>T	ENST00000273390.5	+	7	906	c.829G>T	c.(829-831)Gag>Tag	p.E277*		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	277						mitochondrion (GO:0005739)											GGAGAGGAAGGAGTGGGCCTT	0.488																																							uc003ede.3		NA																	0				ovary(2)|pancreas(1)	3						c.(829-831)GAG>TAG		AAT1-alpha							75.0	73.0	74.0					3																	119445164		2203	4300	6503	SO:0001587	stop_gained	89876					mitochondrion	protein binding	g.chr3:119445164G>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.829G>T	3.37:g.119445164G>T	ENSP00000273390:p.Glu277*					C3orf15_uc010hqy.1_Nonsense_Mutation_p.E277*|C3orf15_uc010hqz.2_Nonsense_Mutation_p.E215*|C3orf15_uc011bjd.1_Nonsense_Mutation_p.E151*|C3orf15_uc011bje.1_Nonsense_Mutation_p.E257*|C3orf15_uc010hra.1_Nonsense_Mutation_p.E38*	p.E277*	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	7	906	+			277			Potential.		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Nonsense_Mutation	SNP	ENST00000273390.5	37	c.829G>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592903	0.96602	.	.	ENSG00000183833	ENST00000273390	.	.	.	5.44	5.44	0.79542	.	0.090990	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.1343	19.636	0.95733	0.0:0.0:1.0:0.0	.	.	.	.	X	277	.	ENSP00000273390:E277X	E	+	1	0	C3orf15	120927854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.132000	0.94455	2.720000	0.93068	0.650000	0.86243	GAG		0.488	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		7	16	1	0	5.18039e-06	0.00308	6.58689e-06	7	16				
STXBP5L	9515	broad.mit.edu	37	3	120871405	120871405	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:120871405G>A	ENST00000273666.6	+	8	1022	c.751G>A	c.(751-753)Gag>Aag	p.E251K	STXBP5L_ENST00000492541.1_Missense_Mutation_p.E251K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E251K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E251K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E251K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	251					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTATTATGATGAGGTAAGTGA	0.353																																							uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(751-753)GAG>AAG		syntaxin binding protein 5-like							112.0	112.0	112.0					3																	120871405		1857	4096	5953	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120871405G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.751G>A	3.37:g.120871405G>A	ENSP00000273666:p.Glu251Lys					STXBP5L_uc011bji.1_Missense_Mutation_p.E251K	p.E251K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	8	891	+			251					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.751G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213277	0.95069	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.54071	0.59;1.63;0.59;0.59;1.63;1.63	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.65038	-0.6265	10	0.16896	T	0.51	-17.6975	17.897	0.88891	0.0:0.0:1.0:0.0	.	251;251	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	K	251	ENSP00000273666:E251K;ENSP00000420019:E251K;ENSP00000419627:E251K;ENSP00000420287:E251K;ENSP00000420666:E251K;ENSP00000420167:E251K	ENSP00000273666:E251K	E	+	1	0	STXBP5L	122354095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.692000	0.91284	2.502000	0.84385	0.655000	0.94253	GAG		0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	33	0	0	0	0.006214	0	8	33				
POLQ	10721	broad.mit.edu	37	3	121187155	121187155	+	Missense_Mutation	SNP	C	C	A	rs146701093	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:121187155C>A	ENST00000264233.5	-	23	6970	c.6842G>T	c.(6841-6843)gGc>gTc	p.G2281V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2281					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CACCTACCTGCCCATGGGAAG	0.348								DNA polymerases (catalytic subunits)					C|||	3	0.000599042	0.0023	0.0	5008	,	,		17383	0.0		0.0	False		,,,				2504	0.0				Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6841-6843)GGC>GTC	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta		C	VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	140.0	137.0	138.0		6842	-0.0	0.0	3	dbSNP_134	138	0,8600		0,0,4300	yes	missense	POLQ	NM_199420.3	109	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	2281/2591	121187155	1,13005	2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121187155C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6842G>T	3.37:g.121187155C>A	ENSP00000264233:p.Gly2281Val					POLQ_uc003eed.2_Missense_Mutation_p.G1453V	p.G2281V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	23	6971	-			2281					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6842G>T	CCDS33833.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	15.02	2.710264	0.48517	2.27E-4	0.0	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.49720	0.77	5.24	-0.00522	0.14018	.	1.113160	0.06593	N	0.752333	T	0.17109	0.0411	N	0.08118	0	0.21290	N	0.999734	B;B	0.33583	0.006;0.418	B;B	0.30943	0.003;0.122	T	0.14755	-1.0461	10	0.52906	T	0.07	.	2.5065	0.04646	0.3427:0.3965:0.1174:0.1434	.	2281;1453	O75417;O75417-2	DPOLQ_HUMAN;.	V	1904;2281;2417	ENSP00000264233:G2281V	ENSP00000264233:G2281V	G	-	2	0	POLQ	122669845	0.004000	0.15560	0.024000	0.17045	0.928000	0.56348	0.085000	0.14912	-0.102000	0.12197	0.650000	0.86243	GGC		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		21	64	1	0	5.26018e-13	0.012319	8.69874e-13	21	64				
POLQ	10721	broad.mit.edu	37	3	121212454	121212454	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:121212454C>G	ENST00000264233.5	-	15	2521	c.2393G>C	c.(2392-2394)cGg>cCg	p.R798P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	798					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAAGGATACCCGAACCAGGTC	0.493								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2392-2394)CGG>CCG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							80.0	77.0	78.0					3																	121212454		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121212454C>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2393G>C	3.37:g.121212454C>G	ENSP00000264233:p.Arg798Pro					POLQ_uc003eed.2_5'Flank	p.R798P	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	15	2522	-			798					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2393G>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769915	0.90020	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54479	0.57	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.90082	3.085	0.80722	D	1	P	0.52170	0.951	P	0.49683	0.619	T	0.79162	-0.1917	10	0.87932	D	0	.	19.3309	0.94288	0.0:1.0:0.0:0.0	.	798	O75417	DPOLQ_HUMAN	P	421;798;934	ENSP00000264233:R798P	ENSP00000264233:R798P	R	-	2	0	POLQ	122695144	1.000000	0.71417	0.879000	0.34478	0.955000	0.61496	7.337000	0.79256	2.648000	0.89879	0.650000	0.86243	CGG		0.493	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		17	14	0	0	0	0.004007	0	17	14				
SEC22A	26984	broad.mit.edu	37	3	122928212	122928212	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:122928212A>T	ENST00000309934.4	+	1	1044	c.148A>T	c.(148-150)Aga>Tga	p.R50*	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Nonsense_Mutation_p.R50*|SEC22A_ENST00000492595.1_Nonsense_Mutation_p.R50*	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	50	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACTTCCTGATAGATGTACACT	0.358																																							uc003ege.2		NA																	0				ovary(1)	1						c.(148-150)AGA>TGA		SEC22 vesicle trafficking protein homolog A							100.0	94.0	96.0					3																	122928212		2203	4300	6503	SO:0001587	stop_gained	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122928212A>T	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.148A>T	3.37:g.122928212A>T	ENSP00000310521:p.Arg50*					SEC22A_uc003egf.2_Nonsense_Mutation_p.R50*	p.R50*	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	2	227	+			50			Cytoplasmic (Potential).|Longin.		B2RE26|Q9Y682	Nonsense_Mutation	SNP	ENST00000309934.4	37	c.148A>T	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	38	6.847332	0.97881	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000481965;ENST00000466519;ENST00000480631;ENST00000491366;ENST00000487572;ENST00000309934	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3678	14.0207	0.64553	1.0:0.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000310521:R50X	R	+	1	2	SEC22A	124410902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.229000	0.72294	1.912000	0.55364	0.528000	0.53228	AGA		0.358	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		14	15	0	0	0	0.00245	0	14	15				
CCDC14	64770	broad.mit.edu	37	3	123665764	123665764	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:123665764C>A	ENST00000488653.2	-	8	1321	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	CCDC14_ENST00000485727.1_Missense_Mutation_p.D211Y|CCDC14_ENST00000489746.1_Missense_Mutation_p.D211Y|CCDC14_ENST00000433542.2_Missense_Mutation_p.D370Y|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Missense_Mutation_p.D251Y			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	411					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GTTTTTGTATCTCGCACATGT	0.383																																							uc011bjx.1		NA																	0					0						c.(1231-1233)GAT>TAT		coiled-coil domain containing 14							196.0	200.0	199.0					3																	123665764		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123665764C>A	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1231G>T	3.37:g.123665764C>A	ENSP00000420180:p.Asp411Tyr					CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.D211Y|CCDC14_uc010hrt.2_Missense_Mutation_p.D370Y|CCDC14_uc003egy.3_Missense_Mutation_p.D211Y|CCDC14_uc003egz.2_Missense_Mutation_p.D211Y	p.D411Y	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	8	1322	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	411			Potential.		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.1231G>T		.	.	.	.	.	.	.	.	.	.	C	12.51	1.960071	0.34565	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000426152	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.65	4.77	0.60923	.	0.588247	0.16422	N	0.215128	T	0.62036	0.2395	L	0.59436	1.845	0.21553	N	0.999642	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.61592	0.891;0.891;0.847	T	0.56232	-0.8013	10	0.87932	D	0	.	13.5093	0.61502	0.0:0.9244:0.0:0.0756	.	411;370;211	Q49A88;Q49A88-6;Q49A88-4	CCD14_HUMAN;.;.	Y	411;251;211;211;370;392;137	ENSP00000420180:D411Y;ENSP00000312031:D251Y;ENSP00000418002:D211Y;ENSP00000418403:D211Y;ENSP00000395706:D370Y;ENSP00000386866:D392Y;ENSP00000414655:D137Y	ENSP00000312031:D251Y	D	-	1	0	CCDC14	125148454	0.908000	0.30866	0.134000	0.22075	0.179000	0.23085	2.320000	0.43797	1.616000	0.50265	0.655000	0.94253	GAT		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		31	80	1	0	8.88839e-20	0.010818	1.63531e-19	31	80				
CCDC37	348807	broad.mit.edu	37	3	126135295	126135295	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:126135295C>A	ENST00000352312.1	+	5	461	c.362C>A	c.(361-363)gCc>gAc	p.A121D	CCDC37_ENST00000505024.1_Missense_Mutation_p.A121D|CCDC37_ENST00000393425.1_Missense_Mutation_p.A121D	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	121										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CGCGCCGAGGCCGAGCATCAG	0.677																																							uc003eiu.1		NA																	0				ovary(1)|skin(1)	2						c.(361-363)GCC>GAC		coiled-coil domain containing 37							21.0	20.0	20.0					3																	126135295		2199	4295	6494	SO:0001583	missense	348807							g.chr3:126135295C>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.362C>A	3.37:g.126135295C>A	ENSP00000344749:p.Ala121Asp					CCDC37_uc010hsg.1_Missense_Mutation_p.A121D	p.A121D	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	5	461	+			121			Potential.		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.362C>A	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	7.753	0.703813	0.15172	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.31769	1.48;1.5;1.5	4.59	-1.74	0.08056	.	1.585860	0.03590	N	0.231678	T	0.19805	0.0476	L	0.39633	1.23	0.09310	N	1	P;P	0.43701	0.815;0.718	B;B	0.37304	0.246;0.125	T	0.18681	-1.0329	10	0.14656	T	0.56	-6.218	3.7364	0.08512	0.4337:0.3619:0.0:0.2044	.	121;121	Q494V2-2;Q494V2	.;CCD37_HUMAN	D	121	ENSP00000344749:A121D;ENSP00000377076:A121D;ENSP00000423046:A121D	ENSP00000344749:A121D	A	+	2	0	CCDC37	127617985	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.292000	0.08332	0.003000	0.14656	-0.500000	0.04577	GCC		0.677	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		4	21	1	0	0.00024832	0.009096	0.000286393	4	21				
BFSP2	8419	broad.mit.edu	37	3	133118939	133118939	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:133118939G>A	ENST00000302334.2	+	1	101	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	4	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGAGTGAGAGGCGAGTGGTAG	0.622																																							uc003epn.1		NA																	0					0						c.(10-12)AGG>AGA		phakinin							91.0	107.0	102.0					3																	133118939		2203	4300	6503	SO:0001819	synonymous_variant	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133118939G>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.12G>A	3.37:g.133118939G>A							p.R4R	NM_003571	NP_003562	Q13515	BFSP2_HUMAN			1	150	+			4			Head.		Q14D32|Q9HBW5	Silent	SNP	ENST00000302334.2	37	c.12G>A	CCDS33859.1																																																																																				0.622	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			4	60	0	0	0	0.009096	0	4	60				
TF	7018	broad.mit.edu	37	3	133467322	133467322	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:133467322A>T	ENST00000402696.3	+	2	595	c.110A>T	c.(109-111)aAg>aTg	p.K37M	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	37	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GAGGCCACTAAGTGCCAGAGT	0.557																																							uc003epu.1		NA																	0				ovary(1)|skin(1)	2						c.(109-111)AAG>ATG		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						211.0	173.0	186.0					3																	133467322		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133467322A>T		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.110A>T	3.37:g.133467322A>T	ENSP00000385834:p.Lys37Met					TF_uc011bls.1_Missense_Mutation_p.K37M|TF_uc011blt.1_Intron|TF_uc003epw.1_Missense_Mutation_p.K37M|TF_uc010htv.1_RNA|TF_uc003epv.1_Missense_Mutation_p.K37M	p.K37M	NM_001063	NP_001054	P02787	TRFE_HUMAN			7	1838	+			37			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.110A>T	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120600	0.77323	.	.	ENSG00000091513	ENST00000402696	T	0.52057	0.68	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86855	0.2026	10	0.87932	D	0	-37.9307	12.535	0.56137	1.0:0.0:0.0:0.0	.	37	P02787	TRFE_HUMAN	M	37	ENSP00000385834:K37M	ENSP00000385834:K37M	K	+	2	0	TF	134950012	1.000000	0.71417	0.654000	0.29608	0.024000	0.10985	5.874000	0.69652	2.145000	0.66743	0.460000	0.39030	AAG		0.557	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		17	29	0	0	0	0.00499	0	17	29				
SLCO2A1	6578	broad.mit.edu	37	3	133664069	133664069	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:133664069C>G	ENST00000310926.4	-	10	1604	c.1331G>C	c.(1330-1332)tGc>tCc	p.C444S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.C368S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	444	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTCCCTGCGGCAGGCAGGAGA	0.532																																							uc003eqa.3		NA																	0				central_nervous_system(1)	1						c.(1330-1332)TGC>TCC		solute carrier organic anion transporter family,							137.0	148.0	144.0					3																	133664069		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133664069C>G		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1331G>C	3.37:g.133664069C>G	ENSP00000311291:p.Cys444Ser					SLCO2A1_uc003eqb.3_Missense_Mutation_p.C368S|SLCO2A1_uc011blv.1_Missense_Mutation_p.C263S	p.C444S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			10	1605	-			444			Extracellular (Potential).|Kazal-like.		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1331G>C	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767246	0.49574	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.61274	0.12;0.12	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.188831	0.64402	D	0.000019	T	0.81602	0.4857	H	0.95574	3.69	0.44918	D	0.997931	D;P;D	0.63880	0.993;0.92;0.972	D;P;P	0.63381	0.914;0.551;0.696	D	0.86752	0.1961	10	0.87932	D	0	.	15.1426	0.72623	0.1416:0.8584:0.0:0.0	.	263;368;444	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	S	444;368	ENSP00000311291:C444S;ENSP00000418893:C368S	ENSP00000311291:C444S	C	-	2	0	SLCO2A1	135146759	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	3.915000	0.56409	2.661000	0.90470	0.491000	0.48974	TGC		0.532	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		27	148	0	0	0	0.005443	0	27	148				
EPHB1	2047	broad.mit.edu	37	3	134968220	134968220	+	Silent	SNP	G	G	T	rs538522857		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:134968220G>T	ENST00000398015.3	+	15	3103	c.2733G>T	c.(2731-2733)acG>acT	p.T911T	EPHB1_ENST00000493838.1_Silent_p.T472T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	911	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGACTTCACGGCCTTTACCA	0.602																																							uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2731-2733)ACG>ACT		ephrin receptor EphB1 precursor							82.0	85.0	84.0					3																	134968220		2097	4221	6318	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134968220G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2733G>T	3.37:g.134968220G>T						EPHB1_uc003equ.2_Silent_p.T472T	p.T911T	NM_004441	NP_004432	P54762	EPHB1_HUMAN			15	2953	+			911			Cytoplasmic (Potential).|SAM.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2733G>T	CCDS46921.1																																																																																				0.602	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		26	17	1	0	1.85244e-09	0.00333	2.75516e-09	26	17				
DZIP1L	199221	broad.mit.edu	37	3	137786534	137786534	+	Missense_Mutation	SNP	G	G	T	rs369290439		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:137786534G>T	ENST00000327532.2	-	14	2203	c.1841C>A	c.(1840-1842)cCg>cAg	p.P614Q	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	614					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGAACTGAACGGGGGCGTGCT	0.547																																							uc003erq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1840-1842)CCG>CAG		DAZ interacting protein 1-like							43.0	42.0	42.0					3																	137786534		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137786534G>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1841C>A	3.37:g.137786534G>T	ENSP00000332148:p.Pro614Gln						p.P614Q	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			14	2204	-			614					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.1841C>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293516	0.40594	.	.	ENSG00000158163	ENST00000327532	T	0.41065	1.01	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000007	T	0.62159	0.2405	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66180	-0.5988	10	0.87932	D	0	-13.5718	14.4241	0.67202	0.0:0.0:1.0:0.0	.	614	Q8IYY4	DZI1L_HUMAN	Q	614	ENSP00000332148:P614Q	ENSP00000332148:P614Q	P	-	2	0	DZIP1L	139269224	1.000000	0.71417	0.510000	0.27712	0.023000	0.10783	4.910000	0.63321	2.358000	0.79984	0.655000	0.94253	CCG		0.547	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		5	18	1	0	1.23904e-05	0.000602	1.53974e-05	5	18				
CLSTN2	64084	broad.mit.edu	37	3	140282886	140282886	+	Silent	SNP	C	C	A	rs199508939		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:140282886C>A	ENST00000458420.3	+	16	2756	c.2566C>A	c.(2566-2568)Cgg>Agg	p.R856R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	856					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTACCGGGTCCGGATCGCCCA	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2566-2568)CGG>AGG		calsyntenin 2 precursor							218.0	186.0	197.0					3																	140282886		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282886C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2566C>A	3.37:g.140282886C>A		HNSCC(16;0.037)					p.R856R	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			16	2756	+			856			Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2566C>A	CCDS3112.1																																																																																				0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		36	72	1	0	4.3181e-19	0.002836	7.8933e-19	36	72				
RASA2	5922	broad.mit.edu	37	3	141304930	141304930	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:141304930C>T	ENST00000452898.1	+	18	1851	c.1816C>T	c.(1816-1818)Ctg>Ttg	p.L606L	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000286364.3_Silent_p.L606L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	606	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L606V(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCCTGTGCACCTGAAAGAAGG	0.378																																							uc003etz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(1816-1818)CTG>TTG		RAS p21 protein activator 2							67.0	67.0	67.0					3																	141304930		2203	4300	6503	SO:0001819	synonymous_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141304930C>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1816C>T	3.37:g.141304930C>T						RASA2_uc010huq.1_Silent_p.L606L|RASA2_uc003eua.1_Silent_p.L606L|RASA2_uc011bnc.1_Silent_p.L198L	p.L606L	NM_006506	NP_006497	Q15283	RASA2_HUMAN			18	1816	+			606			PH.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37	c.1816C>T																																																																																					0.378	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		8	8	0	0	0	0.004482	0	8	8				
ZIC4	84107	broad.mit.edu	37	3	147120515	147120515	+	Splice_Site	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:147120515T>A	ENST00000383075.3	-	2	582	c.70A>T	c.(70-72)Agt>Tgt	p.S24C	ZIC4_ENST00000473123.1_Splice_Site_p.S24C|ZIC4_ENST00000484399.1_Splice_Site_p.S24C|ZIC4_ENST00000491672.1_Splice_Site_p.S24C|ZIC4_ENST00000525172.2_Splice_Site_p.S74C|ZIC4_ENST00000425731.3_Splice_Site_p.S62C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	24	Poly-Ser.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTTAACTTACTTGACTCTTTA	0.333																																							uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(70-72)AGT>TGT		zinc finger protein of the cerebellum 4							134.0	123.0	126.0					3																	147120515		1838	4082	5920	SO:0001630	splice_region_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147120515T>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.70+1A>T	3.37:g.147120515T>A						ZIC4_uc011bno.1_Missense_Mutation_p.S74C	p.S24C	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			2	343	-			24			Poly-Ser.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.70A>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174728	0.78452	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T;T	0.37584	2.73;2.65;2.63;2.73;2.73;1.19;2.59	6.06	3.69	0.42338	.	0.251575	0.27604	N	0.018632	T	0.35913	0.0948	L	0.27053	0.805	0.80722	D	1	D;D	0.57899	0.981;0.979	P;P	0.54759	0.76;0.514	T	0.02860	-1.1101	9	.	.	.	.	10.6985	0.45913	0.0:0.1171:0.0:0.8829	.	74;24	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	C	24;62;74;24;24;24;24;24;24	ENSP00000372553:S24C;ENSP00000397695:S62C;ENSP00000435509:S74C;ENSP00000417855:S24C;ENSP00000420775:S24C;ENSP00000418277:S24C;ENSP00000420627:S24C	.	S	-	1	0	ZIC4	148603205	1.000000	0.71417	0.899000	0.35326	0.991000	0.79684	2.768000	0.47645	0.538000	0.28769	0.533000	0.62120	AGT;AGT;AGT;AGT;AGT;AGC;AGT;AGT;AGT		0.333	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		Missense_Mutation	16	39	0	0	0	0.008871	0	16	39				
ZIC1	7545	broad.mit.edu	37	3	147131292	147131292	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:147131292C>A	ENST00000282928.4	+	3	2027	c.1298C>A	c.(1297-1299)gCc>gAc	p.A433D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	433	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACCACACAGCCGGCCACAGT	0.512																																							uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1297-1299)GCC>GAC		zinc finger protein of the cerebellum 1							114.0	101.0	106.0					3																	147131292		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131292C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1298C>A	3.37:g.147131292C>A	ENSP00000282928:p.Ala433Asp						p.A433D	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			3	2017	+			433			Ser-rich.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1298C>A	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.32|12.32	1.902794|1.902794	0.33628|0.33628	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000282928|ENST00000488404	T|.	0.12361|.	2.69|.	3.28|3.28	3.28|3.28	0.37604|0.37604	.|.	0.531595|.	0.18210|.	U|.	0.148213|.	T|T	0.51075|0.51075	0.1653|0.1653	L|L	0.38175|0.38175	1.15|1.15	0.33322|0.33322	D|D	0.567503|0.567503	B|.	0.15141|.	0.012|.	B|.	0.12156|.	0.007|.	T|T	0.61202|0.61202	-0.7110|-0.7110	10|5	0.41790|.	T|.	0.15|.	.|.	14.5253|14.5253	0.67884|0.67884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	433|.	Q15915|.	ZIC1_HUMAN|.	D|T	433|122	ENSP00000282928:A433D|.	ENSP00000282928:A433D|.	A|P	+|+	2|1	0|0	ZIC1|ZIC1	148613982|148613982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.282000|4.282000	0.58971|0.58971	1.369000|1.369000	0.46134|0.46134	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.512	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		9	48	1	0	0.000274275	0.004482	0.000314197	9	48				
ERICH6	131831	broad.mit.edu	37	3	150403781	150403781	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:150403781G>A	ENST00000295910.6	-	5	690	c.638C>T	c.(637-639)tCg>tTg	p.S213L	FAM194A_ENST00000491361.1_Missense_Mutation_p.S67L	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATTTAGTTTCGACTCTTCTGG	0.308																																							uc003eyg.2		NA																	0				skin(2)|ovary(1)	3						c.(637-639)TCG>TTG		hypothetical protein LOC131831							103.0	112.0	109.0					3																	150403781		2200	4299	6499	SO:0001583	missense	131831							g.chr3:150403781G>A																												ENST00000295910.6:c.638C>T	3.37:g.150403781G>A	ENSP00000295910:p.Ser213Leu					FAM194A_uc003eyh.2_Missense_Mutation_p.S67L	p.S213L	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			5	695	-			213						Missense_Mutation	SNP	ENST00000295910.6	37	c.638C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897011	0.17686	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14766	2.69;2.48	5.39	1.3	0.21679	.	2.375970	0.01618	N	0.022892	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28299	-1.0048	10	0.41790	T	0.15	0.7546	1.9379	0.03340	0.1765:0.1585:0.5016:0.1634	.	213	Q7L0X2	F194A_HUMAN	L	213;67;171	ENSP00000295910:S213L;ENSP00000419366:S67L	ENSP00000295910:S213L	S	-	2	0	FAM194A	151886471	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.053000	0.14184	0.335000	0.23614	0.655000	0.94253	TCG		0.308	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			16	41	0	0	0	0.004007	0	16	41				
SI	6476	broad.mit.edu	37	3	164724632	164724632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:164724632C>A	ENST00000264382.3	-	37	4440	c.4378G>T	c.(4378-4380)Gga>Tga	p.G1460*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1460	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTGACCATCCATAGAGATTG	0.343										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4378-4380)GGA>TGA		sucrase-isomaltase	Acarbose(DB00284)						128.0	116.0	120.0					3																	164724632		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164724632C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4378G>T	3.37:g.164724632C>A	ENSP00000264382:p.Gly1460*	HNSCC(35;0.089)					p.G1460*	NM_001041	NP_001032	P14410	SUIS_HUMAN			37	4440	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1460			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.4378G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	44	10.822307	0.99473	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4174	0.90575	0.0:1.0:0.0:0.0	.	.	.	.	X	1460	.	ENSP00000264382:G1460X	G	-	1	0	SI	166207326	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.117000	0.77129	2.648000	0.89879	0.484000	0.47621	GGA		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	15	1	0	6.4e-05	0.004672	7.65288e-05	3	15				
SI	6476	broad.mit.edu	37	3	164764657	164764657	+	Missense_Mutation	SNP	A	A	T	rs121912613		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:164764657A>T	ENST00000264382.3	-	16	1921	c.1859T>A	c.(1858-1860)cTg>cAg	p.L620Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	620	Isomaltase.		L -> P (in CSID; SI accumulates predominantly in the ER). {ECO:0000269|PubMed:14724820}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACTGAACTCCAGCATTCCAGT	0.363										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14	GRCh37	CM035081	SI	M	rs121912613	c.(1858-1860)CTG>CAG		sucrase-isomaltase	Acarbose(DB00284)						106.0	104.0	105.0					3																	164764657		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164764657A>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1859T>A	3.37:g.164764657A>T	ENSP00000264382:p.Leu620Gln	HNSCC(35;0.089)					p.L620Q	NM_001041	NP_001032	P14410	SUIS_HUMAN			16	1921	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	620		L -> P (in CSID; SI accumulates predominantly in the ER).	Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1859T>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340744	0.81911	.	.	ENSG00000090402	ENST00000264382	D	0.94497	-3.44	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.076506	0.53938	D	0.000044	D	0.97099	0.9052	M	0.83118	2.625	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.97660	1.0160	10	0.87932	D	0	.	13.0889	0.59156	1.0:0.0:0.0:0.0	.	620	P14410	SUIS_HUMAN	Q	620	ENSP00000264382:L620Q	ENSP00000264382:L620Q	L	-	2	0	SI	166247351	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.768000	0.91737	2.037000	0.60232	0.383000	0.25322	CTG		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		11	43	0	0	0	0.003163	0	11	43				
WDR49	151790	broad.mit.edu	37	3	167245610	167245610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:167245610G>A	ENST00000308378.3	-	11	1851	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Nonsense_Mutation_p.Q341*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	516										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATTTCTACCTGACCAAAGATC	0.383																																							uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1546-1548)CAG>TAG		WD repeat domain 49							102.0	94.0	97.0					3																	167245610		2203	4300	6503	SO:0001587	stop_gained	151790							g.chr3:167245610G>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1546C>T	3.37:g.167245610G>A	ENSP00000311343:p.Gln516*					WDR49_uc003feu.1_Nonsense_Mutation_p.Q341*|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.Q516*	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			11	1852	-			516					Q8N297	Nonsense_Mutation	SNP	ENST00000308378.3	37	c.1546C>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	36	5.814044	0.96975	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	.	.	.	5.49	5.49	0.81192	.	0.116264	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	16.2917	0.82756	0.0:0.0:1.0:0.0	.	.	.	.	X	516;341	.	ENSP00000311343:Q516X	Q	-	1	0	WDR49	168728304	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.591000	0.74090	2.586000	0.87340	0.557000	0.71058	CAG		0.383	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		6	18	0	0	0	0.001168	0	6	18				
TNIK	23043	broad.mit.edu	37	3	170912349	170912349	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:170912349C>G	ENST00000436636.2	-	5	726	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TNIK_ENST00000538048.1_Missense_Mutation_p.E128Q|TNIK_ENST00000341852.6_Missense_Mutation_p.E128Q|TNIK_ENST00000460047.1_Missense_Mutation_p.E128Q|TNIK_ENST00000488470.1_Missense_Mutation_p.E128Q|TNIK_ENST00000284483.8_Missense_Mutation_p.E128Q|TNIK_ENST00000357327.5_Missense_Mutation_p.E128Q|TNIK_ENST00000369326.5_Missense_Mutation_p.E128Q|TNIK_ENST00000475336.1_Missense_Mutation_p.E128Q|TNIK_ENST00000470834.1_Missense_Mutation_p.E128Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCAATCCACTCCTCTTTCAAC	0.478																																							uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(382-384)GAG>CAG		TRAF2 and NCK interacting kinase isoform 1							219.0	224.0	222.0					3																	170912349		1975	4149	6124	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170912349C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.382G>C	3.37:g.170912349C>G	ENSP00000399511:p.Glu128Gln					TNIK_uc003fhi.2_Missense_Mutation_p.E128Q|TNIK_uc003fhj.2_Missense_Mutation_p.E128Q|TNIK_uc003fhk.2_Missense_Mutation_p.E128Q|TNIK_uc003fhl.2_Missense_Mutation_p.E128Q|TNIK_uc003fhm.2_Missense_Mutation_p.E128Q|TNIK_uc003fhn.2_Missense_Mutation_p.E128Q|TNIK_uc003fho.2_Missense_Mutation_p.E128Q	p.E128Q	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		5	727	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		128			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.382G>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298255	0.95574	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	N	0.25201	0.72	0.80722	D	1	B;P;P;D;P;P;P;P	0.69078	0.169;0.915;0.883;0.997;0.915;0.915;0.883;0.931	B;B;B;D;B;B;B;P	0.64877	0.043;0.4;0.422;0.93;0.4;0.4;0.422;0.536	T	0.75311	-0.3362	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	128;128;128;128;128;128;128;128	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	128;128;128;128;128;128;128;128;128;128;102	ENSP00000399511:E128Q;ENSP00000358332:E128Q;ENSP00000443278:E128Q;ENSP00000345352:E128Q;ENSP00000284483:E128Q;ENSP00000418156:E128Q;ENSP00000349880:E128Q;ENSP00000418916:E128Q;ENSP00000418378:E128Q;ENSP00000419990:E128Q;ENSP00000417338:E102Q	ENSP00000284483:E128Q	E	-	1	0	TNIK	172395043	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	7.792000	0.85828	2.885000	0.99019	0.655000	0.94253	GAG		0.478	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		17	236	0	0	0	0.00499	0	17	236				
TBL1XR1	79718	broad.mit.edu	37	3	176765161	176765161	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:176765161T>A	ENST00000430069.1	-	9	1050	c.791A>T	c.(790-792)cAg>cTg	p.Q264L	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q264L|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	264					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GCCTTTATGCTGCCCTAAGGT	0.318																																							uc003fiw.3		NA																	0				ovary(1)	1						c.(790-792)CAG>CTG		transducin (beta)-like 1 X-linked receptor 1							32.0	30.0	30.0					3																	176765161		1814	4058	5872	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176765161T>A	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.791A>T	3.37:g.176765161T>A	ENSP00000405574:p.Gln264Leu					TBL1XR1_uc003fix.3_Missense_Mutation_p.Q264L|TBL1XR1_uc011bpz.1_5'UTR	p.Q264L	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		9	1051	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	264			WD 3.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.791A>T	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806921	0.90623	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.59638	0.25;0.25	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	N	0.20445	0.575	0.80722	D	1	P	0.47191	0.891	P	0.55508	0.777	T	0.63994	-0.6511	10	0.72032	D	0.01	-11.7164	15.282	0.73794	0.0:0.0:0.0:1.0	.	264	Q9BZK7	TBL1R_HUMAN	L	264;264;126	ENSP00000405574:Q264L;ENSP00000413251:Q264L	ENSP00000405574:Q264L	Q	-	2	0	TBL1XR1	178247855	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	CAG		0.318	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		4	6	0	0	0	0.009096	0	4	6				
PIK3CA	5290	broad.mit.edu	37	3	178947861	178947861	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:178947861A>T	ENST00000263967.3	+	19	2893	c.2736A>T	c.(2734-2736)ggA>ggT	p.G912G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	912	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCATTTTGGGAATTGGAGATC	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2734-2736)GGA>GGT		phosphoinositide-3-kinase, catalytic, alpha							191.0	179.0	183.0					3																	178947861		1903	4128	6031	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947861A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2736A>T	3.37:g.178947861A>T		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G912G	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2893	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		912			PI3K/PI4K.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.2736A>T	CCDS43171.1																																																																																				0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			12	118	0	0	0	0.010729	0	12	118				
BCL6	604	broad.mit.edu	37	3	187447539	187447539	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:187447539C>A	ENST00000406870.2	-	5	1020	c.654G>T	c.(652-654)atG>atT	p.M218I	BCL6_ENST00000450123.2_Missense_Mutation_p.M218I|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.M218I|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	218					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGGCCACAGGCATCCGGACAT	0.617			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																		uc003frp.3		NA		Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(652-654)ATG>ATT		B-cell lymphoma 6 protein isoform 1							44.0	44.0	44.0					3																	187447539		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447539C>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.654G>T	3.37:g.187447539C>A	ENSP00000384371:p.Met218Ile					BCL6_uc011bsf.1_Missense_Mutation_p.M218I|BCL6_uc010hza.2_Missense_Mutation_p.M116I|BCL6_uc003frq.1_Missense_Mutation_p.M218I	p.M218I	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1111	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		218					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.654G>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937798	0.52972	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07800	3.16;3.16;3.17	5.47	5.47	0.80525	.	0.114202	0.85682	D	0.000000	T	0.21881	0.0527	L	0.44542	1.39	0.42852	D	0.99408	B;P	0.50528	0.276;0.936	B;P	0.61201	0.121;0.885	T	0.00062	-1.2158	10	0.66056	D	0.02	.	18.7638	0.91864	0.0:1.0:0.0:0.0	.	218;218	B8PSA7;P41182	.;BCL6_HUMAN	I	218	ENSP00000384371:M218I;ENSP00000232014:M218I;ENSP00000413122:M218I	ENSP00000232014:M218I	M	-	3	0	BCL6	188930233	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.221000	0.51215	2.764000	0.94973	0.556000	0.70494	ATG		0.617	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		6	17	1	0	0.00116845	0.001168	0.00129404	6	17				
TP63	8626	broad.mit.edu	37	3	189455623	189455623	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:189455623G>C	ENST00000264731.3	+	2	246	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	TP63_ENST00000392460.3_Missense_Mutation_p.E53Q|TP63_ENST00000320472.5_Missense_Mutation_p.E53Q|TP63_ENST00000440651.2_Missense_Mutation_p.E53Q|TP63_ENST00000382063.4_Missense_Mutation_p.E53Q|TP63_ENST00000418709.2_Missense_Mutation_p.E53Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	53	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTCAGTCCAGAGGTTTTCCA	0.388										HNSCC(45;0.13)																													uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(157-159)GAG>CAG		tumor protein p63 isoform 1							83.0	81.0	82.0					3																	189455623		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189455623G>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.157G>C	3.37:g.189455623G>C	ENSP00000264731:p.Glu53Gln	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.E53Q|TP63_uc003frz.2_Missense_Mutation_p.E53Q|TP63_uc010hzc.1_Missense_Mutation_p.E53Q	p.E53Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	2	246	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		53			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.157G>C	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232100	0.58777	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99732	-6.06;-6.32;-6.3;-6.3;-6.06;-6.57	5.56	5.56	0.83823	.	0.338109	0.31450	N	0.007622	D	0.97888	0.9306	N	0.08118	0	0.80722	D	1	B;B;B;B	0.26363	0.134;0.002;0.044;0.147	B;B;B;B	0.26864	0.074;0.001;0.003;0.013	D	0.99180	1.0867	9	.	.	.	-10.8709	18.5098	0.90911	0.0:0.0:1.0:0.0	.	53;53;53;53	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	Q	53	ENSP00000264731:E53Q;ENSP00000407144:E53Q;ENSP00000317510:E53Q;ENSP00000376253:E53Q;ENSP00000394337:E53Q;ENSP00000371495:E53Q	.	E	+	1	0	TP63	190938317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.274000	0.78538	2.605000	0.88082	0.655000	0.94253	GAG		0.388	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		9	30	0	0	0	0.004482	0	9	30				
PYDC2	152138	broad.mit.edu	37	3	191179241	191179241	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:191179241C>A	ENST00000518817.1	+	1	290	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	97						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						ATGCCCCCACCTTAACCCCTC	0.483																																							uc011bso.1		NA																	0					0						c.(289-291)CCT>CAT		pyrin domain containing 2							79.0	81.0	80.0					3																	191179241		2080	4245	6325	SO:0001583	missense	152138					cytoplasm|nucleus		g.chr3:191179241C>A			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.290C>A	3.37:g.191179241C>A	ENSP00000428325:p.Pro97His						p.P97H	NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN			1	290	+			97						Missense_Mutation	SNP	ENST00000518817.1	37	c.290C>A		.	.	.	.	.	.	.	.	.	.	C	0.370	-0.934463	0.02340	.	.	ENSG00000253548	ENST00000518817	T	0.68903	-0.36	0.158	-0.317	0.12736	.	.	.	.	.	T	0.43634	0.1256	.	.	.	0.09310	N	1	P	0.40180	0.705	B	0.25140	0.058	T	0.30679	-0.9970	7	0.87932	D	0	.	.	.	.	.	97	Q56P42	PYDC2_HUMAN	H	97	ENSP00000428325:P97H	ENSP00000428325:P97H	P	+	2	0	PYDC2	192661935	0.005000	0.15991	0.002000	0.10522	0.003000	0.03518	-0.938000	0.03938	-1.029000	0.03317	-1.021000	0.02439	CCT		0.483	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		16	64	1	0	5.3912e-06	0.006122	6.83959e-06	16	64				
PIGG	54872	broad.mit.edu	37	4	494291	494291	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:494291G>A	ENST00000453061.2	+	2	367	c.261G>A	c.(259-261)gtG>gtA	p.V87V	PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Silent_p.V87V|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000383028.4_Silent_p.V87V|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|ZNF721_ENST00000511833.2_5'Flank|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000503111.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	87					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAAAGGGTGTGAAATTTATGC	0.438																																							uc003gak.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(259-261)GTG>GTA		phosphatidylinositol glycan anchor biosynthesis,							145.0	128.0	134.0					4																	494291		2203	4300	6503	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:494291G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.261G>A	4.37:g.494291G>A						PIGG_uc003gaj.3_Silent_p.V87V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.V87V|PIGG_uc003gal.3_5'UTR|ZNF721_uc003gag.2_5'Flank|ZNF721_uc010ibe.2_5'Flank|ZNF721_uc003gah.1_5'Flank|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_5'UTR|PIGG_uc003gan.2_5'UTR	p.V87V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			2	397	+			87			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.261G>A	CCDS46992.1																																																																																				0.438	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		14	33	0	0	0	0.003163	0	14	33				
MAEA	10296	broad.mit.edu	37	4	1309328	1309328	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:1309328C>T	ENST00000303400.4	+	3	459	c.396C>T	c.(394-396)caC>caT	p.H132H	MAEA_ENST00000505839.1_Silent_p.H84H|MAEA_ENST00000510794.1_Silent_p.H131H|MAEA_ENST00000505177.2_Silent_p.H132H|MAEA_ENST00000264750.6_Silent_p.H132H|MAEA_ENST00000514708.1_Silent_p.H132H|MAEA_ENST00000452175.2_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	132	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	TGGTGGAGCACCTGCTGCGTT	0.672																																							uc003gda.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(394-396)CAC>CAT		macrophage erythroblast attacher isoform 1							74.0	68.0	70.0					4																	1309328		2203	4300	6503	SO:0001819	synonymous_variant	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1309328C>T	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.396C>T	4.37:g.1309328C>T						MAEA_uc010ibs.1_Silent_p.H132H|MAEA_uc003gdb.2_Silent_p.H132H|MAEA_uc011bvb.1_Intron|MAEA_uc003gdc.2_Silent_p.H132H|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Silent_p.H131H|MAEA_uc011bvd.1_Silent_p.H84H|MAEA_uc010ibt.2_Silent_p.H8H	p.H132H	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		3	426	+			132			LisH.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Silent	SNP	ENST00000303400.4	37	c.396C>T	CCDS33936.1																																																																																				0.672	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		25	46	0	0	0	0.004656	0	25	46				
NELFA	7469	broad.mit.edu	37	4	1985073	1985073	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:1985073C>A	ENST00000411638.2	-	11	1575	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N	NELFA_ENST00000382882.3_Missense_Mutation_p.K531N|NELFA_ENST00000542778.1_Missense_Mutation_p.K385N	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	520					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGGGCTTGTACTTCTTGAAGC	0.577																																							uc003gem.2		NA																	0				skin(1)	1						c.(1591-1593)AAG>AAT		Wolf-Hirschhorn syndrome candidate 2 protein							158.0	136.0	143.0					4																	1985073		2203	4300	6503	SO:0001583	missense	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985073C>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1560G>T	4.37:g.1985073C>A	ENSP00000399165:p.Lys520Asn					WHSC2_uc003gek.2_Missense_Mutation_p.K257N|WHSC2_uc003gel.2_Missense_Mutation_p.K445N|WHSC2_uc003gen.2_Missense_Mutation_p.K385N	p.K531N	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		11	1833	-			520					A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1593G>T		.	.	.	.	.	.	.	.	.	.	C	18.04	3.534244	0.64972	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.52983	0.68;0.64;0.67;0.69	5.35	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	M	0.64567	1.98	0.58432	D	0.999995	P	0.43231	0.801	P	0.48334	0.574	T	0.55088	-0.8195	10	0.54805	T	0.06	-36.7966	11.2978	0.49288	0.0:0.8523:0.0:0.1477	.	520	Q9H3P2	NELFA_HUMAN	N	531;524;385;520	ENSP00000372335:K531N;ENSP00000387647:K524N;ENSP00000445757:K385N;ENSP00000399165:K520N	ENSP00000372335:K531N	K	-	3	2	WHSC2	1954871	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.549000	0.36212	1.262000	0.44165	0.462000	0.41574	AAG		0.577	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		6	56	1	0	2.0095e-06	0.001984	2.62175e-06	6	56				
ZFYVE28	57732	broad.mit.edu	37	4	2306845	2306845	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:2306845C>G	ENST00000290974.2	-	8	1561	c.1222G>C	c.(1222-1224)Ggg>Cgg	p.G408R	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G378R|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G338R	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	408					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TCTGCCGTCCCCTCCACGTCA	0.701																																							uc003gex.1		NA																	0				skin(2)|ovary(1)	3						c.(1222-1224)GGG>CGG		zinc finger, FYVE domain containing 28							42.0	38.0	39.0					4																	2306845		2198	4291	6489	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306845C>G	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1222G>C	4.37:g.2306845C>G	ENSP00000290974:p.Gly408Arg					ZFYVE28_uc011bvk.1_Missense_Mutation_p.G338R|ZFYVE28_uc011bvl.1_Missense_Mutation_p.G378R|ZFYVE28_uc003gew.1_Missense_Mutation_p.G294R	p.G408R	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1541	-			408					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1222G>C	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322981	0.60634	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.62941	0.04;-0.01;0.04	5.39	5.39	0.77823	.	0.192411	0.44097	D	0.000483	T	0.65964	0.2742	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.69654	0.965;0.905	T	0.70831	-0.4765	10	0.54805	T	0.06	.	18.1975	0.89828	0.0:1.0:0.0:0.0	.	378;408	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	R	408;378;338	ENSP00000290974:G408R;ENSP00000425706:G378R;ENSP00000426299:G338R	ENSP00000290974:G408R	G	-	1	0	ZFYVE28	2276643	0.979000	0.34478	0.910000	0.35882	0.048000	0.14542	5.207000	0.65197	2.548000	0.85928	0.405000	0.27470	GGG		0.701	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		30	28	0	0	0	0.009535	0	30	28				
HGFAC	3083	broad.mit.edu	37	4	3443844	3443844	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:3443844G>T	ENST00000382774.3	+	1	231	c.116G>T	c.(115-117)gGg>gTg	p.G39V	HGFAC_ENST00000511533.1_Splice_Site_p.G39V	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	39					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGCCTGGCGGGGTGAGCACT	0.706																																							uc003ghc.2		NA																	0				central_nervous_system(2)	2						c.(115-117)GGG>GTG		HGF activator preproprotein							18.0	21.0	20.0					4																	3443844		1870	3749	5619	SO:0001630	splice_region_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443844G>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.117+1G>T	4.37:g.3443844G>T						HGFAC_uc010icw.2_Missense_Mutation_p.G39V	p.G39V	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	119	+			39					Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.116G>T	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	8.077	0.771448	0.16051	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88201	-2.35;-2.32	3.18	1.37	0.22104	.	.	.	.	.	T	0.75481	0.3855	N	0.14661	0.345	0.45239	D	0.998248	B;B	0.18013	0.025;0.014	B;B	0.10450	0.005;0.005	T	0.64918	-0.6294	9	0.51188	T	0.08	.	3.6398	0.08162	0.1354:0.0:0.6203:0.2443	.	39;39	D6RAR4;Q04756	.;HGFA_HUMAN	V	39	ENSP00000372224:G39V;ENSP00000421801:G39V	ENSP00000372224:G39V	G	+	2	0	HGFAC	3413642	0.710000	0.27896	0.940000	0.37924	0.457000	0.32468	0.614000	0.24314	0.345000	0.23873	0.313000	0.20887	GGG		0.706	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3		Missense_Mutation	16	26	1	0	8.60227e-14	0.004007	1.44648e-13	16	26				
EVC2	132884	broad.mit.edu	37	4	5620325	5620325	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:5620325C>G	ENST00000344408.5	-	15	2639	c.2586G>C	c.(2584-2586)atG>atC	p.M862I	EVC2_ENST00000310917.2_Missense_Mutation_p.M782I|EVC2_ENST00000344938.1_Missense_Mutation_p.M862I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	862					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGCTCCTGTCCATCTGAGCAA	0.592																																							uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(2584-2586)ATG>ATC		limbin							41.0	38.0	39.0					4																	5620325		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5620325C>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2586G>C	4.37:g.5620325C>G	ENSP00000342144:p.Met862Ile					EVC2_uc011bwb.1_Missense_Mutation_p.M302I|EVC2_uc003gik.2_Missense_Mutation_p.M782I	p.M862I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			15	2640	-			862					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2586G>C	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541543	0.65085	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75589	-0.95;-0.93;-0.94	5.3	5.3	0.74995	.	0.247806	0.37095	N	0.002242	T	0.64103	0.2568	L	0.29908	0.895	0.35024	D	0.758159	P	0.35844	0.524	B	0.31946	0.138	T	0.74873	-0.3516	10	0.54805	T	0.06	-33.9641	16.4384	0.83889	0.0:1.0:0.0:0.0	.	862	Q86UK5	LBN_HUMAN	I	862;782;862	ENSP00000339954:M862I;ENSP00000311683:M782I;ENSP00000342144:M862I	ENSP00000311683:M782I	M	-	3	0	EVC2	5671226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.877000	0.48506	2.488000	0.83962	0.655000	0.94253	ATG		0.592	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		9	9	0	0	0	0.004482	0	9	9				
C4orf50	389197	broad.mit.edu	37	4	5961151	5961151	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:5961151A>T	ENST00000324058.5	-	7	871	c.782T>A	c.(781-783)aTt>aAt	p.I261N	C4orf50_ENST00000531445.1_Missense_Mutation_p.I735N			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	261										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATTGCTGCAAATGCTTTGTCT	0.488																																							uc003git.1		NA																	0				pancreas(2)|breast(1)	3						c.(781-783)ATT>AAT		hypothetical protein LOC389197							120.0	116.0	117.0					4																	5961151		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5961151A>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.782T>A	4.37:g.5961151A>T	ENSP00000317287:p.Ile261Asn						p.I261N	NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN			7	872	-			261						Missense_Mutation	SNP	ENST00000324058.5	37	c.782T>A		.	.	.	.	.	.	.	.	.	.	A	14.46	2.542461	0.45280	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.30714	1.52;1.52	4.5	2.05	0.26809	.	1.477850	0.04766	N	0.427132	T	0.37517	0.1006	L	0.51422	1.61	0.09310	N	1	D	0.54207	0.965	P	0.51135	0.66	T	0.18398	-1.0338	10	0.66056	D	0.02	0.036	4.0749	0.09899	0.6525:0.2335:0.1139:0.0	.	261	Q6ZRC1	CD050_HUMAN	N	735;261	ENSP00000437121:I735N;ENSP00000317287:I261N	ENSP00000317287:I261N	I	-	2	0	C4orf50	6012052	0.003000	0.15002	0.001000	0.08648	0.953000	0.61014	0.954000	0.29175	0.768000	0.33290	0.533000	0.62120	ATT		0.488	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		13	39	0	0	0	0.001855	0	13	39				
ZNF518B	85460	broad.mit.edu	37	4	10446546	10446546	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:10446546C>A	ENST00000326756.3	-	3	1845	c.1407G>T	c.(1405-1407)ttG>ttT	p.L469F		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	469					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TATGTGGATACAAATTATTTT	0.333																																							uc003gmn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1405-1407)TTG>TTT		zinc finger protein 518B							56.0	59.0	58.0					4																	10446546		2202	4300	6502	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446546C>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1407G>T	4.37:g.10446546C>A	ENSP00000317614:p.Leu469Phe						p.L469F	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	1894	-			469					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1407G>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414032	0.42817	.	.	ENSG00000178163	ENST00000326756	T	0.01767	4.65	5.43	-1.47	0.08772	.	1.599530	0.03990	N	0.294672	T	0.01222	0.0040	N	0.22421	0.69	0.09310	N	1	P	0.37015	0.578	B	0.28305	0.088	T	0.41698	-0.9494	10	0.39692	T	0.17	0.3806	0.959	0.01391	0.2393:0.3509:0.1181:0.2917	.	469	Q9C0D4	Z518B_HUMAN	F	469	ENSP00000317614:L469F	ENSP00000317614:L469F	L	-	3	2	ZNF518B	10055644	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-3.613000	0.00414	-0.168000	0.10853	-0.345000	0.07892	TTG		0.333	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		5	22	1	0	0.00116845	0.001168	0.00129404	5	22				
CPEB2	132864	broad.mit.edu	37	4	15009984	15009984	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:15009984C>A	ENST00000507071.1	+	3	743	c.656C>A	c.(655-657)cCa>cAa	p.P219Q	CPEB2_ENST00000538197.1_Missense_Mutation_p.P656Q|CPEB2_ENST00000541112.1_Missense_Mutation_p.P656Q|CPEB2_ENST00000345451.3_Intron|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.P219Q|CPEB2_ENST00000442003.2_Intron|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_Intron|CPEB2_ENST00000382401.3_Intron			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	219					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTGCAGTTGCCAGCTTGGGGC	0.443																																							uc003gni.1		NA																	0				skin(1)	1						c.(655-657)CCA>CAA		cytoplasmic polyadenylation element binding							81.0	75.0	77.0					4																	15009984		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15009984C>A	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.656C>A	4.37:g.15009984C>A	ENSP00000424084:p.Pro219Gln					CPEB2_uc003gnj.1_Intron|CPEB2_uc003gnk.1_Missense_Mutation_p.P219Q|CPEB2_uc003gnl.1_Intron|CPEB2_uc003gnm.1_Intron|CPEB2_uc003gnn.1_Intron	p.P219Q	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN			3	743	+			219					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.656C>A		.	.	.	.	.	.	.	.	.	.	C	16.30	3.085201	0.55861	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000507071;ENST00000259997;ENST00000382391	T;T;T;T	0.46819	0.9;0.86;0.97;0.96	5.65	5.65	0.86999	.	0.449841	0.23953	N	0.042940	T	0.48409	0.1498	N	0.08118	0	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.75484	0.986;0.969	T	0.49143	-0.8970	10	0.30078	T	0.28	-8.5599	15.5726	0.76352	0.0:1.0:0.0:0.0	.	656;219	F5H160;Q7Z5Q1	.;CPEB2_HUMAN	Q	656;656;219;219;198	ENSP00000443985:P656Q;ENSP00000437884:P656Q;ENSP00000424084:P219Q;ENSP00000259997:P219Q	ENSP00000259997:P219Q	P	+	2	0	CPEB2	14619082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.164000	0.42387	2.826000	0.97356	0.563000	0.77884	CCA		0.443	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		6	24	1	0	2.7689e-08	0.001984	3.94231e-08	6	24				
PACRGL	133015	broad.mit.edu	37	4	20728923	20728923	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:20728923A>T	ENST00000503585.1	+	9	1097	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	PACRGL_ENST00000295290.8_Missense_Mutation_p.I209F|PACRGL_ENST00000502938.1_Missense_Mutation_p.I75F|KCNIP4_ENST00000382149.4_5'Flank|PACRGL_ENST00000360916.5_Missense_Mutation_p.I209F|PACRGL_ENST00000507634.1_Missense_Mutation_p.I209F|PACRGL_ENST00000444671.2_Missense_Mutation_p.I111F|PACRGL_ENST00000513459.1_Missense_Mutation_p.I156F|PACRGL_ENST00000538990.1_Missense_Mutation_p.I111F|PACRGL_ENST00000502374.1_3'UTR	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	236										endometrium(2)|lung(7)|prostate(1)	10						CCTTAGCATCATCAAATCTAA	0.378																																							uc010iek.2		NA																	0					0						c.(706-708)ATC>TTC		PARK2 co-regulated-like isoform 1							137.0	143.0	141.0					4																	20728923		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20728923A>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.706A>T	4.37:g.20728923A>T	ENSP00000423881:p.Ile236Phe					PACRGL_uc003gpu.2_RNA|PACRGL_uc003gpz.2_Missense_Mutation_p.I209F|PACRGL_uc011bxm.1_3'UTR|PACRGL_uc003gqa.2_Missense_Mutation_p.I111F|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.I209F|PACRGL_uc003gpw.2_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.I111F|PACRGL_uc003gpy.2_Missense_Mutation_p.I156F	p.I236F	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			9	1097	+			236					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.706A>T	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095243	0.56075	.	.	ENSG00000163138	ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000538990;ENST00000502938;ENST00000507634;ENST00000513459	.	.	.	5.63	5.63	0.86233	Armadillo-type fold (1);	0.138333	0.49916	D	0.000135	T	0.66257	0.2771	L	0.41356	1.27	0.40867	D	0.983887	D;D;D;D	0.89917	0.991;1.0;0.999;0.993	P;D;D;D	0.87578	0.904;0.998;0.996;0.926	T	0.61695	-0.7010	9	0.18276	T	0.48	-3.9348	14.719	0.69291	1.0:0.0:0.0:0.0	.	236;111;156;209	Q8N7B6;B4DMN7;D6RGK2;Q8N7B6-2	PACRL_HUMAN;.;.;.	F	236;209;209;111;111;75;209;156	.	ENSP00000295290:I209F	I	+	1	0	PACRGL	20338021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.303000	0.72794	2.281000	0.76405	0.533000	0.62120	ATC		0.378	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		16	55	0	0	0	0.004007	0	16	55				
ARAP2	116984	broad.mit.edu	37	4	36195269	36195269	+	Splice_Site	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:36195269T>A	ENST00000303965.4	-	7	1977	c.1488A>T	c.(1486-1488)ggA>ggT	p.G496G		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	496	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACATGCGTTTTCTGCAAAACA	0.259																																							uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1486-1488)GGA>GGT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							65.0	61.0	63.0					4																	36195269		2201	4289	6490	SO:0001630	splice_region_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36195269T>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1488-1A>T	4.37:g.36195269T>A						ARAP2_uc003gsr.1_Silent_p.G496G	p.G496G	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			7	1826	-			496			PH 1.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.1488A>T	CCDS3441.1																																																																																				0.259	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	Silent	17	10	0	0	0	0.006122	0	17	10				
ARAP2	116984	broad.mit.edu	37	4	36230838	36230838	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:36230838T>A	ENST00000303965.4	-	2	760	c.271A>T	c.(271-273)Aag>Tag	p.K91*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	91					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGGTAATCCTTTGAAGGGTCA	0.363																																							uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(271-273)AAG>TAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							93.0	90.0	91.0					4																	36230838		2203	4300	6503	SO:0001587	stop_gained	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36230838T>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.271A>T	4.37:g.36230838T>A	ENSP00000302895:p.Lys91*					ARAP2_uc003gsr.1_Nonsense_Mutation_p.K91*	p.K91*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			2	609	-			91					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	ENST00000303965.4	37	c.271A>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	37	5.984690	0.97173	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.94	-1.22	0.09494	.	1.253710	0.05255	N	0.514664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.7655	0.23564	0.0:0.3972:0.1306:0.4722	.	.	.	.	X	91	.	ENSP00000302895:K91X	K	-	1	0	ARAP2	35907233	0.000000	0.05858	0.005000	0.12908	0.791000	0.44710	-0.099000	0.11007	-0.101000	0.12219	0.529000	0.55759	AAG		0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		14	42	0	0	0	0.00245	0	14	42				
TBC1D1	23216	broad.mit.edu	37	4	37962214	37962214	+	Intron	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:37962214A>G	ENST00000261439.4	+	3	772				PTTG2_ENST00000504686.1_Silent_p.P53P|TBC1D1_ENST00000508802.1_Intron	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						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						ACGATGCTCCATCAGCCTTAC	0.433																																							uc011bye.1		NA																	0					0						c.(157-159)CCA>CCG		pituitary tumor-transforming 2							70.0	74.0	73.0					4																	37962214		2201	4300	6501	SO:0001627	intron_variant	10744				chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	g.chr4:37962214A>G	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.418-53916A>G	4.37:g.37962214A>G						TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	p.P53P	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN			1	159	+			53					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.159A>G	CCDS33972.1																																																																																				0.433	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		16	38	0	0	0	0.003163	0	16	38				
N4BP2	55728	broad.mit.edu	37	4	40104284	40104284	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:40104284G>T	ENST00000261435.6	+	4	1235	c.819G>T	c.(817-819)gaG>gaT	p.E273D		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	273					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TAGAATCTGAGTGCGTTGAGG	0.433																																							uc003guy.3		NA																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(817-819)GAG>GAT		Nedd4 binding protein 2							73.0	76.0	75.0					4																	40104284		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104284G>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.819G>T	4.37:g.40104284G>T	ENSP00000261435:p.Glu273Asp					N4BP2_uc010ifq.2_Missense_Mutation_p.E193D|N4BP2_uc010ifr.2_Missense_Mutation_p.E193D	p.E273D	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			4	1157	+			273					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.819G>T	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869987	0.17322	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.79247	-1.25	5.53	1.79	0.24919	.	0.147455	0.43747	D	0.000531	T	0.63873	0.2548	L	0.32530	0.975	0.09310	N	1	P;B	0.34724	0.465;0.335	B;B	0.36666	0.23;0.115	T	0.54364	-0.8305	10	0.42905	T	0.14	-4.5126	5.915	0.19050	0.2822:0.1293:0.5885:0.0	.	273;273	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	D	273;193	ENSP00000261435:E273D	ENSP00000261435:E273D	E	+	3	2	N4BP2	39780679	0.000000	0.05858	0.478000	0.27316	0.248000	0.25809	0.121000	0.15667	0.432000	0.26286	0.650000	0.86243	GAG		0.433	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		21	36	1	0	2.37509e-13	0.010504	3.95849e-13	21	36				
GABRG1	2565	broad.mit.edu	37	4	46067421	46067421	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:46067421G>A	ENST00000295452.4	-	4	669	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	168					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAAATTCGAAGCAGACGATTA	0.333																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(502-504)CTT>TTT		gamma-aminobutyric acid A receptor, gamma 1							91.0	89.0	89.0					4																	46067421		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067421G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.502C>T	4.37:g.46067421G>A	ENSP00000295452:p.Leu168Phe						p.L168F	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	654	-			168			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.502C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127911	0.56721	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80994	-1.44	5.08	4.24	0.50183	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.86100	0.5852	M	0.68728	2.09	0.49299	D	0.999778	D	0.64830	0.994	D	0.71656	0.974	D	0.84778	0.0771	10	0.41790	T	0.15	.	9.2796	0.37720	0.1659:0.0:0.8341:0.0	.	168	Q8N1C3	GBRG1_HUMAN	F	168	ENSP00000295452:L168F	ENSP00000295452:L168F	L	-	1	0	GABRG1	45762178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.403000	0.73264	1.255000	0.44051	0.508000	0.49915	CTT		0.333	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		4	26	0	0	0	0.009096	0	4	26				
GABRG1	2565	broad.mit.edu	37	4	46099325	46099325	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:46099325A>T	ENST00000295452.4	-	2	313	c.146T>A	c.(145-147)gTg>gAg	p.V49E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	49					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTTTGTTCACCGTTAAATC	0.348																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(145-147)GTG>GAG		gamma-aminobutyric acid A receptor, gamma 1							185.0	188.0	187.0					4																	46099325		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099325A>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.146T>A	4.37:g.46099325A>T	ENSP00000295452:p.Val49Glu						p.V49E	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	298	-			49			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.146T>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	A	9.618	1.132964	0.21041	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.67523	-0.27	4.96	2.5	0.30297	.	1.710450	0.02846	N	0.128559	T	0.58609	0.2134	L	0.40543	1.245	0.28106	N	0.931194	B	0.18166	0.026	B	0.18263	0.021	T	0.35076	-0.9803	10	0.21014	T	0.42	.	7.5709	0.27907	0.76:0.0:0.24:0.0	.	49	Q8N1C3	GBRG1_HUMAN	E	49	ENSP00000295452:V49E	ENSP00000295452:V49E	V	-	2	0	GABRG1	45794082	0.974000	0.33945	0.994000	0.49952	0.328000	0.28507	2.664000	0.46783	0.365000	0.24400	-0.274000	0.10170	GTG		0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		26	99	0	0	0	0.005443	0	26	99				
GABRA4	2557	broad.mit.edu	37	4	46930604	46930604	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:46930604G>T	ENST00000264318.3	-	9	2285	c.1303C>A	c.(1303-1305)Cca>Aca	p.P435T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	435					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CGGCTGAATGGGTTTGGACTG	0.463																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1303-1305)CCA>ACA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						122.0	113.0	116.0					4																	46930604		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930604G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1303C>A	4.37:g.46930604G>T	ENSP00000264318:p.Pro435Thr						p.P435T	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1442	-			435			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1303C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667990	0.67814	.	.	ENSG00000109158	ENST00000264318	D	0.85171	-1.95	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.984200	0.02326	N	0.073518	D	0.88179	0.6367	L	0.43152	1.355	0.43317	D	0.995336	P	0.43578	0.811	P	0.48270	0.572	T	0.72327	-0.4327	10	0.33141	T	0.24	.	17.0117	0.86408	0.0:0.0:1.0:0.0	.	435	P48169	GBRA4_HUMAN	T	435	ENSP00000264318:P435T	ENSP00000264318:P435T	P	-	1	0	GABRA4	46625361	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.489000	0.66875	2.706000	0.92434	0.650000	0.86243	CCA		0.463	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			21	65	1	0	2.27525e-19	0.003954	4.17253e-19	21	65				
TXK	7294	broad.mit.edu	37	4	48069685	48069685	+	Missense_Mutation	SNP	C	C	A	rs202057212		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:48069685C>A	ENST00000264316.4	-	15	1638	c.1553G>T	c.(1552-1554)cGg>cTg	p.R518L	TXK_ENST00000507351.1_Missense_Mutation_p.R173L	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	518	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.R518L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGTGACAGCCCGCAGCAGCTC	0.483																																							uc003gxx.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1552-1554)CGG>CTG		TXK tyrosine kinase							108.0	114.0	112.0					4																	48069685		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48069685C>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1553G>T	4.37:g.48069685C>A	ENSP00000264316:p.Arg518Leu					TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.R205L	p.R518L	NM_003328	NP_003319	P42681	TXK_HUMAN			15	1639	-			518			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.1553G>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183268	0.09495	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	D;D	0.82984	-1.67;-1.67	4.95	-3.18	0.05186	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.935003	0.08966	N	0.867945	T	0.69513	0.3119	L	0.31371	0.925	0.09310	N	1	B;B	0.16166	0.016;0.0	B;B	0.22386	0.039;0.004	T	0.54655	-0.8261	10	0.36615	T	0.2	.	5.7073	0.17915	0.0:0.3313:0.136:0.5327	.	205;518	B4DTB5;P42681	.;TXK_HUMAN	L	518;173	ENSP00000264316:R518L;ENSP00000423481:R173L	ENSP00000264316:R518L	R	-	2	0	TXK	47764442	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-0.144000	0.10280	-0.457000	0.07033	-1.036000	0.02392	CGG		0.483	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		19	100	1	0	8.10497e-08	0.010504	1.13217e-07	19	100				
LRRC66	339977	broad.mit.edu	37	4	52861910	52861910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:52861910G>T	ENST00000343457.3	-	4	1284	c.1278C>A	c.(1276-1278)taC>taA	p.Y426*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	426						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCATGTCATCGTAGAAGCCCT	0.537																																							uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1276-1278)TAC>TAA		leucine rich repeat containing 66							122.0	127.0	126.0					4																	52861910		2028	4181	6209	SO:0001587	stop_gained	339977					integral to membrane		g.chr4:52861910G>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1278C>A	4.37:g.52861910G>T	ENSP00000341944:p.Tyr426*						p.Y426*	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1291	-			426						Nonsense_Mutation	SNP	ENST00000343457.3	37	c.1278C>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086134	0.36855	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.67	-4.07	0.03975	.	0.923375	0.09003	N	0.862712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9104	3.5718	0.07920	0.5521:0.1111:0.2253:0.1116	.	.	.	.	X	426	.	ENSP00000341944:Y426X	Y	-	3	2	LRRC66	52556667	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.758000	0.04766	-0.856000	0.04120	-0.373000	0.07131	TAC		0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		13	67	1	0	4.3838e-07	0.001855	5.8727e-07	13	67				
PDGFRA	5156	broad.mit.edu	37	4	55151608	55151608	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:55151608C>A	ENST00000257290.5	+	17	2725	c.2394C>A	c.(2392-2394)ttC>ttA	p.F798L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.F558L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGTTGAGCTTCACCTATCAAG	0.393			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2392-2394)TTC>TTA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						92.0	90.0	91.0					4																	55151608		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55151608C>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2394C>A	4.37:g.55151608C>A	ENSP00000257290:p.Phe798Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.F558L	p.F798L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2725	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		798			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2394C>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379300	0.82682	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.88664	-2.41;-2.41	5.94	-1.8	0.07907	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33496	U	0.004852	D	0.88273	0.6392	N	0.21097	0.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86127	0.1572	10	0.87932	D	0	.	12.9182	0.58216	0.0:0.5278:0.0:0.4722	.	798	P16234	PGFRA_HUMAN	L	558;798	ENSP00000423325:F558L;ENSP00000257290:F798L	ENSP00000423325:F558L	F	+	3	2	FIP1L1;PDGFRA	54846365	0.300000	0.24435	0.994000	0.49952	0.992000	0.81027	-0.238000	0.08977	-0.198000	0.10333	0.563000	0.77884	TTC		0.393	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		15	26	1	0	1.15088e-07	0.004007	1.58036e-07	15	26				
PDGFRA	5156	broad.mit.edu	37	4	55155249	55155249	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:55155249G>T	ENST00000257290.5	+	21	3179	c.2848G>T	c.(2848-2850)Gtg>Ttg	p.V950L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V710L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	950	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGTGAGATTGTGGAGAATCT	0.488			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2848-2850)GTG>TTG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						162.0	154.0	157.0					4																	55155249		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55155249G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2848G>T	4.37:g.55155249G>T	ENSP00000257290:p.Val950Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.V710L	p.V950L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		21	3179	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		950			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2848G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756551	0.31137	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.71579	-0.58;-0.39	5.95	4.08	0.47627	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29522	U	0.011903	T	0.32346	0.0826	N	0.00652	-1.29	0.80722	D	1	P	0.36354	0.549	B	0.33295	0.161	T	0.53872	-0.8377	10	0.02654	T	1	.	12.29	0.54812	0.0:0.1294:0.7362:0.1344	.	950	P16234	PGFRA_HUMAN	L	710;950	ENSP00000423325:V710L;ENSP00000257290:V950L	ENSP00000423325:V710L	V	+	1	0	FIP1L1;PDGFRA	54850006	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	4.528000	0.60580	1.478000	0.48253	0.563000	0.77884	GTG		0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		10	28	1	0	3.86212e-05	0.008291	4.67636e-05	10	28				
KIT	3815	broad.mit.edu	37	4	55561731	55561731	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:55561731C>T	ENST00000288135.5	+	2	218	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	41	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCATCCATCCAGGAAAATC	0.483		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(121-123)CCA>TCA		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						91.0	82.0	85.0					4																	55561731		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561731C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.121C>T	4.37:g.55561731C>T	ENSP00000288135:p.Pro41Ser					KIT_uc010igs.2_Missense_Mutation_p.P41S	p.P41S	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	208	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		41			Extracellular (Potential).|Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.121C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870874	0.51695	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.53206	0.63;0.63	5.36	5.36	0.76844	Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000045	T	0.69305	0.3096	M	0.81942	2.565	0.44890	D	0.9979	D;D	0.89917	1.0;0.996	D;P	0.72625	0.978;0.861	T	0.72534	-0.4264	10	0.72032	D	0.01	.	14.4558	0.67416	0.0:1.0:0.0:0.0	.	41;41	P10721-2;P10721	.;KIT_HUMAN	S	41	ENSP00000288135:P41S;ENSP00000390987:P41S	ENSP00000288135:P41S	P	+	1	0	KIT	55256488	0.972000	0.33761	0.585000	0.28666	0.008000	0.06430	3.739000	0.55075	2.788000	0.95919	0.650000	0.86243	CCA		0.483	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			16	18	0	0	0	0.003163	0	16	18				
KDR	3791	broad.mit.edu	37	4	55987331	55987331	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:55987331G>T	ENST00000263923.4	-	2	389	c.94C>A	c.(94-96)Ccc>Acc	p.P32T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	32					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAGCCTGGGCAGATCAAGA	0.348			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(94-96)CCC>ACC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						117.0	121.0	120.0					4																	55987331		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55987331G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.94C>A	4.37:g.55987331G>T	ENSP00000263923:p.Pro32Thr	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.P32T|KDR_uc011bzx.1_Missense_Mutation_p.P32T	p.P32T	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	396	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		32			Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.94C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092810	0.56075	.	.	ENSG00000128052	ENST00000263923	T	0.38240	1.15	5.83	5.83	0.93111	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70498	-0.4855	10	0.87932	D	0	.	18.2872	0.90118	0.0:0.0:1.0:0.0	.	32;32	P35968-2;P35968	.;VGFR2_HUMAN	T	32	ENSP00000263923:P32T	ENSP00000263923:P32T	P	-	1	0	KDR	55682088	1.000000	0.71417	0.465000	0.27155	0.307000	0.27823	6.861000	0.75478	2.759000	0.94783	0.650000	0.86243	CCC		0.348	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			3	39	1	0	0.00909568	0.009096	0.00964006	3	39				
UGT2B4	7363	broad.mit.edu	37	4	70361312	70361312	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:70361312T>A	ENST00000305107.6	-	1	314	c.268A>T	c.(268-270)Atc>Ttc	p.I90F	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.I90F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	90					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AGCTGCTTGATAATATCCTCA	0.358																																							uc003hek.3		NA																	0				skin(2)	2						c.(268-270)ATC>TTC		UDP glucuronosyltransferase 2B4 precursor							54.0	53.0	53.0					4																	70361312		2058	4238	6296	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361312T>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.268A>T	4.37:g.70361312T>A	ENSP00000305221:p.Ile90Phe					UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.I90F	p.I90F	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	315	-			90					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.268A>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.377923	0.00207	.	.	ENSG00000156096	ENST00000512583;ENST00000305107	T;T	0.58797	0.31;0.31	2.41	-4.82	0.03171	.	1.263160	0.05966	U	0.641433	T	0.18593	0.0446	N	0.01446	-0.86	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.16897	-1.0387	10	0.02654	T	1	.	1.0316	0.01539	0.2326:0.1784:0.1148:0.4741	.	90;90	G5E9X8;P06133	.;UD2B4_HUMAN	F	90	ENSP00000421290:I90F;ENSP00000305221:I90F	ENSP00000305221:I90F	I	-	1	0	UGT2B4	70395901	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.001000	0.01465	-1.485000	0.01854	-2.071000	0.00384	ATC		0.358	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		3	17	0	0	0	0.004672	0	3	17				
CSN2	1447	broad.mit.edu	37	4	70823204	70823204	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:70823204G>T	ENST00000353151.3	-	5	474	c.463C>A	c.(463-465)Cag>Aag	p.Q155K		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GGAATAGGCTGAGGGACCTGC	0.537																																							uc003hes.3		NA																	0					0						c.(463-465)CAG>AAG		casein beta precursor							78.0	83.0	81.0					4																	70823204		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823204G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.463C>A	4.37:g.70823204G>T	ENSP00000341030:p.Gln155Lys					CSN2_uc003het.3_Missense_Mutation_p.Q154K	p.Q155K	NM_001891	NP_001882	P05814	CASB_HUMAN			5	476	-			155					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.463C>A	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845342	0.71603	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.59	3.73	0.42828	.	0.000000	0.47093	D	0.000260	T	0.62122	0.2402	M	0.67397	2.05	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.54289	-0.8316	9	0.72032	D	0.01	-24.9867	10.7015	0.45931	0.0:0.1927:0.8073:0.0	.	155	P05814	CASB_HUMAN	K	155	.	ENSP00000341030:Q155K	Q	-	1	0	CSN2	70857793	0.951000	0.32395	0.024000	0.17045	0.615000	0.37417	3.566000	0.53805	1.496000	0.48567	0.650000	0.86243	CAG		0.537	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			9	26	1	0	1.76689e-08	0.006214	2.52626e-08	9	26				
CSN2	1447	broad.mit.edu	37	4	70825776	70825777	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:70825776_70825777TG>CT	ENST00000353151.3	-	2	83_84	c.72_73CA>AG	c.(70-75)agCAgt>agAGgt	p.24_25SS>RG		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CTTACCTCACTGCTTGAAAGGC	0.322																																							uc003hes.3		NA																	0					0						c.(70-75)AGCAGT>AGAGGT		casein beta precursor																																				SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70825776_70825777TG>CT	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.72_73delinsCT	4.37:g.70825776_70825777delinsCT	ENSP00000341030:p.S24_S25delinsRG					CSN2_uc003het.3_Missense_Mutation_p.24_25SS>RG	p.24_25SS>RG	NM_001891	NP_001882	P05814	CASB_HUMAN			2	85_86	-			24_25					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	DNP	ENST00000353151.3	37	c.72_73CA>AG	CCDS3532.1																																																																																				0.322	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			4	13	0	0	0	0.004672	0	4	13				
PROL1	58503	broad.mit.edu	37	4	71275244	71275244	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:71275244C>A	ENST00000399575.2	+	3	373	c.199C>A	c.(199-201)Cca>Aca	p.P67T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	67	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCCTTTGTCCCAGGGCGAGT	0.488																																							uc003hfi.2		NA																	0				large_intestine(1)	1						c.(199-201)CCA>ACA		proline rich, lacrimal 1							252.0	237.0	242.0					4																	71275244		1936	4137	6073	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275244C>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.199C>A	4.37:g.71275244C>A	ENSP00000382485:p.Pro67Thr						p.P67T	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	373	+		all_hematologic(202;0.196)	67			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.199C>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	9.174	1.021983	0.19433	.	.	ENSG00000171199	ENST00000399575	T	0.33865	1.39	2.0	2.0	0.26442	.	.	.	.	.	T	0.43567	0.1253	L	0.47190	1.495	0.09310	N	1	P	0.47350	0.894	P	0.55999	0.789	T	0.18085	-1.0348	9	0.87932	D	0	.	7.5125	0.27581	0.0:1.0:0.0:0.0	.	67	Q99935	PROL1_HUMAN	T	67	ENSP00000382485:P67T	ENSP00000382485:P67T	P	+	1	0	PROL1	71309833	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.348000	0.07740	1.433000	0.47394	0.591000	0.81541	CCA		0.488	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		27	73	1	0	2.44723e-14	0.004656	4.19384e-14	27	73				
NPFFR2	10886	broad.mit.edu	37	4	72994393	72994393	+	Missense_Mutation	SNP	G	G	A	rs201045074		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:72994393G>A	ENST00000308744.6	+	2	489	c.391G>A	c.(391-393)Gat>Aat	p.D131N	NPFFR2_ENST00000358749.3_Missense_Mutation_p.D29N|NPFFR2_ENST00000395999.1_Missense_Mutation_p.D32N|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	131					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTGTACTCAGATATTAATAT	0.373																																							uc003hgg.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(391-393)GAT>AAT		neuropeptide FF receptor 2 isoform 1							149.0	132.0	138.0					4																	72994393		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994393G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.391G>A	4.37:g.72994393G>A	ENSP00000307822:p.Asp131Asn					NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.D32N|NPFFR2_uc003hgh.2_Missense_Mutation_p.D29N	p.D131N	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	489	+			131			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.391G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512862	0.64522	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.35789	1.29;1.29;1.29	5.9	5.06	0.68205	.	0.564583	0.15914	N	0.238452	T	0.31765	0.0807	L	0.29908	0.895	0.09310	N	1	P;P	0.50710	0.778;0.938	P;P	0.46076	0.503;0.451	T	0.10177	-1.0641	10	0.15952	T	0.53	.	14.6755	0.68975	0.0698:0.0:0.9302:0.0	.	32;131	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	N	131;32;29	ENSP00000307822:D131N;ENSP00000379321:D32N;ENSP00000351599:D29N	ENSP00000307822:D131N	D	+	1	0	NPFFR2	73213257	0.989000	0.36119	0.325000	0.25375	0.201000	0.24016	3.692000	0.54727	1.504000	0.48704	0.650000	0.86243	GAT		0.373	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		5	24	0	0	0	0.000602	0	5	24				
AREG	374	broad.mit.edu	37	4	75311105	75311105	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:75311105C>G	ENST00000395748.3	+	1	255	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V	AREG_ENST00000502307.1_Missense_Mutation_p.L15V|AREG_ENST00000264487.2_Missense_Mutation_p.L15V	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	15					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			GGTGCTGTCGCTCTTGATACT	0.622																																							uc011cbl.1		NA																	0					0						c.(43-45)CTC>GTC		amphiregulin preproprotein							20.0	30.0	27.0					4																	75311105		2177	4291	6468	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75311105C>G	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.43C>G	4.37:g.75311105C>G	ENSP00000379097:p.Leu15Val						p.L15V	NM_001657	NP_001648	P15514	AREG_HUMAN	Lung(101;0.196)		1	253	+			15					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.43C>G	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342039	0.24339	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.23754	1.89;1.89;1.99	3.87	3.03	0.35002	.	0.648268	0.14967	N	0.288017	T	0.38612	0.1047	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.07309	-1.0779	10	0.41790	T	0.15	-2.8095	7.4476	0.27219	0.0:0.8798:0.0:0.1202	.	15	P15514	AREG_HUMAN	V	15	ENSP00000379097:L15V;ENSP00000264487:L15V;ENSP00000421414:L15V	ENSP00000264487:L15V	L	+	1	0	AREG	75529969	0.157000	0.22836	0.201000	0.23476	0.626000	0.37791	1.146000	0.31589	0.986000	0.38683	0.467000	0.42956	CTC		0.622	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			3	6	0	0	0	0.001168	0	3	6				
SHROOM3	57619	broad.mit.edu	37	4	77661953	77661953	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:77661953G>T	ENST00000296043.6	+	5	3580	c.2627G>T	c.(2626-2628)cGt>cTt	p.R876L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	876					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GACAGCGGCCGTGGCCCCCAG	0.692																																							uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(2626-2628)CGT>CTT		shroom family member 3 protein							13.0	17.0	16.0					4																	77661953		2112	4128	6240	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661953G>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2627G>T	4.37:g.77661953G>T	ENSP00000296043:p.Arg876Leu					SHROOM3_uc011cbz.1_Missense_Mutation_p.R700L|SHROOM3_uc003hkf.1_Missense_Mutation_p.R751L|SHROOM3_uc003hkg.2_Missense_Mutation_p.R654L	p.R876L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3580	+			876					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2627G>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	g	7.282	0.609293	0.14066	.	.	ENSG00000138771	ENST00000296043	T	0.29397	1.57	3.85	3.0	0.34707	.	3.420860	0.00754	N	0.001093	T	0.30293	0.0760	L	0.54323	1.7	0.09310	N	1	B;B;B	0.19817	0.039;0.039;0.021	B;B;B	0.17098	0.017;0.012;0.012	T	0.30208	-0.9986	10	0.10902	T	0.67	4.3499	7.6166	0.28160	0.0984:0.182:0.7197:0.0	.	700;876;654	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	876	ENSP00000296043:R876L	ENSP00000296043:R876L	R	+	2	0	SHROOM3	77880977	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.479000	0.22228	1.200000	0.43188	0.457000	0.33378	CGT		0.692	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		3	20	1	0	0.004672	0.004672	0.00503002	3	20				
BMP2K	55589	broad.mit.edu	37	4	79831904	79831904	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:79831904A>T	ENST00000335016.5	+	16	2369	c.2203A>T	c.(2203-2205)Aag>Tag	p.K735*	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	735					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCAAGTGCAAAAGGGGAATGA	0.438																																							uc003hlk.2		NA																	0				lung(1)	1						c.(2203-2205)AAG>TAG		BMP-2 inducible kinase isoform a							94.0	86.0	88.0					4																	79831904		1879	4106	5985	SO:0001587	stop_gained	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79831904A>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2203A>T	4.37:g.79831904A>T	ENSP00000334836:p.Lys735*					PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	p.K735*	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			16	2369	+			735					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Nonsense_Mutation	SNP	ENST00000335016.5	37	c.2203A>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.216762|4.216762	0.79352|0.79352	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000335016	.|.	.|.	.|.	5.67|5.67	4.5|4.5	0.54988|0.54988	.|.	0.115998|0.115998	0.38381|0.38381	N|N	0.001707|0.001707	T|.	0.33673|.	0.0871|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13656|.	-1.0501|.	5|.	.|0.02654	.|T	.|1	-14.9269|-14.9269	11.4195|11.4195	0.49974|0.49974	0.9294:0.0:0.0706:0.0|0.9294:0.0:0.0706:0.0	.|.	.|.	.|.	.|.	I|X	427|735	.|.	.|ENSP00000334836:K735X	K|K	+|+	2|1	0|0	BMP2K|BMP2K	80050928|80050928	0.999000|0.999000	0.42202|0.42202	0.046000|0.046000	0.18839|0.18839	0.016000|0.016000	0.09150|0.09150	4.167000|4.167000	0.58209|0.58209	0.994000|0.994000	0.38892|0.38892	0.454000|0.454000	0.30748|0.30748	AAA|AAG		0.438	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		7	34	0	0	0	0.00308	0	7	34				
ENOPH1	58478	broad.mit.edu	37	4	83378077	83378077	+	Missense_Mutation	SNP	G	G	T	rs543773779		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:83378077G>T	ENST00000273920.3	+	5	800	c.532G>T	c.(532-534)Ggt>Tgt	p.G178C	ENOPH1_ENST00000509635.1_Missense_Mutation_p.G90C	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GCTTGTTGATGGTCACTTTGA	0.408																																							uc003hmv.2		NA																	0					0						c.(532-534)GGT>TGT		enolase-phosphatase 1							169.0	154.0	159.0					4																	83378077		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83378077G>T		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.532G>T	4.37:g.83378077G>T	ENSP00000273920:p.Gly178Cys					ENOPH1_uc003hmw.2_Missense_Mutation_p.G90C|ENOPH1_uc003hmx.2_Missense_Mutation_p.G32C	p.G178C	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN			5	789	+			178						Missense_Mutation	SNP	ENST00000273920.3	37	c.532G>T	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.575689	0.86645	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.05786	3.39;3.39	5.37	5.37	0.77165	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41106	-0.9527	10	0.87932	D	0	-24.4411	19.4755	0.94985	0.0:0.0:1.0:0.0	.	178	Q9UHY7	ENOPH_HUMAN	C	178;178;90	ENSP00000273920:G178C;ENSP00000422005:G90C	ENSP00000273920:G178C	G	+	1	0	ENOPH1	83597101	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	9.596000	0.98267	2.672000	0.90937	0.585000	0.79938	GGT		0.408	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		5	25	1	0	0.000602214	0.000602	0.000676645	5	25				
DMP1	1758	broad.mit.edu	37	4	88584385	88584385	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:88584385G>A	ENST00000339673.6	+	6	1554	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Silent_p.E469E|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	485					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AAAACATTGAGATAGAGAGCC	0.463																																							uc003hqv.2		NA																	0				pancreas(1)|skin(1)	2						c.(1453-1455)GAG>GAA		dentin matrix acidic phosphoprotein 1 isoform 1							168.0	158.0	161.0					4																	88584385		2203	4300	6503	SO:0001819	synonymous_variant	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584385G>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1455G>A	4.37:g.88584385G>A						DMP1_uc003hqw.2_Silent_p.E469E	p.E485E	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1559	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	485					A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	c.1455G>A	CCDS3623.1																																																																																				0.463	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			22	110	0	0	0	0.010504	0	22	110				
HSP90AB3P	3327	broad.mit.edu	37	4	88814755	88814755	+	IGR	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:88814755C>A								MEPE (46786 upstream) : SPP1 (82063 downstream)																							GTGTCTTCACCCTGCTGCATT	0.468																																							uc010iko.1		NA																	0					NA						c.(1381-1383)CCC>CAC		SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																																				SO:0001628	intergenic_variant	0							g.chr4:88814755C>A																													4.37:g.88814755C>A							p.P461H							4	1382	+									Missense_Mutation	SNP		37	c.1382C>A																																																																																				0	0.468									10	40	1	0	2.17888e-05	0.006214	2.68607e-05	10	40				
MMRN1	22915	broad.mit.edu	37	4	90816678	90816678	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:90816678C>A	ENST00000394980.1	+	2	875	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	MMRN1_ENST00000394981.1_Silent_p.R152R|MMRN1_ENST00000264790.2_Silent_p.R186R			Q13201	MMRN1_HUMAN	multimerin 1	186					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATACCTCAGCCGGGGTGACAG	0.473																																							uc003hst.2		NA																	0				ovary(4)	4						c.(556-558)CGG>AGG		multimerin 1							42.0	42.0	42.0					4																	90816678		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816678C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.556C>A	4.37:g.90816678C>A						MMRN1_uc010iku.2_Silent_p.R152R	p.R186R	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	1	627	+		Hepatocellular(203;0.114)	186			Cell attachment site (Potential).		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.556C>A	CCDS3635.1																																																																																				0.473	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	27	1	0	1.06961e-07	0.00308	1.48315e-07	8	27				
MMRN1	22915	broad.mit.edu	37	4	90874223	90874223	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:90874223C>A	ENST00000394980.1	+	9	3660	c.3341C>A	c.(3340-3342)cCt>cAt	p.P1114H	MMRN1_ENST00000508372.1_Missense_Mutation_p.P856H|MMRN1_ENST00000394981.1_Missense_Mutation_p.P417H|MMRN1_ENST00000264790.2_Missense_Mutation_p.P1114H			Q13201	MMRN1_HUMAN	multimerin 1	1114	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGACTATACCTGGTCCTATC	0.368																																							uc003hst.2		NA																	0				ovary(4)	4						c.(3340-3342)CCT>CAT		multimerin 1							112.0	115.0	114.0					4																	90874223		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874223C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3341C>A	4.37:g.90874223C>A	ENSP00000378431:p.Pro1114His					MMRN1_uc010iku.2_Missense_Mutation_p.P417H|MMRN1_uc011cds.1_Missense_Mutation_p.P856H	p.P1114H	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3412	+		Hepatocellular(203;0.114)	1114			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3341C>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648215	0.67358	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.97	4.97	0.65823	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.097596	0.45606	D	0.000359	D	0.84124	0.5403	L	0.58101	1.795	0.34305	D	0.684807	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.88501	0.3082	10	0.72032	D	0.01	.	17.2791	0.87123	0.0:1.0:0.0:0.0	.	417;1114	Q13201-2;Q13201	.;MMRN1_HUMAN	H	1114;1114;417;856	ENSP00000378431:P1114H;ENSP00000264790:P1114H;ENSP00000378432:P417H;ENSP00000426461:P856H	ENSP00000264790:P1114H	P	+	2	0	MMRN1	91093246	0.973000	0.33851	0.993000	0.49108	0.850000	0.48378	4.991000	0.63883	2.685000	0.91497	0.484000	0.47621	CCT		0.368	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		12	45	1	0	2.27111e-07	0.001368	3.08624e-07	12	45				
PDHA2	5161	broad.mit.edu	37	4	96762193	96762193	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:96762193A>T	ENST00000295266.4	+	1	955	c.892A>T	c.(892-894)Agt>Tgt	p.S298C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	298					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TCCTGGAGTCAGTTATCGTAC	0.428																																							uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(892-894)AGT>TGT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						103.0	100.0	101.0					4																	96762193		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762193A>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.892A>T	4.37:g.96762193A>T	ENSP00000295266:p.Ser298Cys						p.S298C	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	955	+		Hepatocellular(203;0.114)	298					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.892A>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961210	0.74016	.	.	ENSG00000163114	ENST00000295266	D	0.96168	-3.93	4.81	4.81	0.61882	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98925	1.0785	10	0.87932	D	0	-9.0403	12.6466	0.56738	1.0:0.0:0.0:0.0	.	298	P29803	ODPAT_HUMAN	C	298	ENSP00000295266:S298C	ENSP00000295266:S298C	S	+	1	0	PDHA2	96981216	1.000000	0.71417	0.922000	0.36590	0.832000	0.47134	8.306000	0.89962	2.160000	0.67779	0.383000	0.25322	AGT		0.428	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			24	33	0	0	0	0.003954	0	24	33				
ADH1A	124	broad.mit.edu	37	4	100208112	100208112	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:100208112G>T	ENST00000209668.2	-	3	267	c.154C>A	c.(154-156)Cac>Aac	p.H52N	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	52					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|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)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CTAACCACGTGGTCATCTGTG	0.473																																							uc003hur.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(154-156)CAC>AAC		class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)						153.0	137.0	142.0					4																	100208112		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208112G>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.154C>A	4.37:g.100208112G>T	ENSP00000209668:p.His52Asn					uc003hum.1_RNA|ADH1A_uc011ceg.1_Missense_Mutation_p.H52N|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Missense_Mutation_p.H52N	p.H52N	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	225	-			52					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.154C>A	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684346	0.29872	.	.	ENSG00000187758	ENST00000209668	T	0.06142	3.34	2.79	2.79	0.32731	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.168430	0.53938	D	0.000060	T	0.12390	0.0301	L	0.49350	1.555	0.31263	N	0.692673	P	0.39391	0.671	P	0.47786	0.557	T	0.02484	-1.1152	10	0.87932	D	0	-13.5492	13.9907	0.64364	0.0:0.0:1.0:0.0	.	52	P07327	ADH1A_HUMAN	N	52	ENSP00000209668:H52N	ENSP00000209668:H52N	H	-	1	0	ADH1A	100427135	0.967000	0.33354	0.016000	0.15963	0.070000	0.16714	2.129000	0.42055	1.544000	0.49359	0.460000	0.39030	CAC		0.473	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		29	63	1	0	2.65835e-16	0.007291	4.68795e-16	29	63				
ADH1B	125	broad.mit.edu	37	4	100237443	100237443	+	Silent	SNP	C	C	A	rs146657145		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:100237443C>A	ENST00000305046.8	-	4	343	c.276G>T	c.(274-276)ccG>ccT	p.P92P	ADH1B_ENST00000394887.3_Silent_p.P52P|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	92					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GAGTAAAGAGCGGGATGACTT	0.373																																							uc003hus.3		NA																	0				ovary(1)|breast(1)	2						c.(274-276)CCG>CCT		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						99.0	95.0	97.0					4																	100237443		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237443C>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.276G>T	4.37:g.100237443C>A						ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.P52P|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Silent_p.P52P	p.P92P	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	4	360	-			92					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.276G>T	CCDS34033.1																																																																																				0.373	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		10	25	1	0	2.17888e-05	0.006214	2.68607e-05	10	25				
SLC9B1	150159	broad.mit.edu	37	4	103866435	103866435	+	Missense_Mutation	SNP	C	C	A	rs4504256		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:103866435C>A	ENST00000296422.7	-	6	709	c.568G>T	c.(568-570)Ggt>Tgt	p.G190C	SLC9B1_ENST00000394789.3_Missense_Mutation_p.G190C	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	190					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGGCATGGACCTACAGCCAAT	0.388																																							uc003hww.2		NA																	0				ovary(1)|skin(1)	2						c.(568-570)GGT>TGT		Na+/H+ exchanger domain containing 1 isoform 1							112.0	112.0	112.0					4																	103866435		2203	4300	6503	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103866435C>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.568G>T	4.37:g.103866435C>A	ENSP00000296422:p.Gly190Cys					NHEDC1_uc003hwu.2_Missense_Mutation_p.G190C|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	p.G190C	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	6	690	-		Hepatocellular(203;0.217)	190			Helical; (Potential).		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.568G>T	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432164	0.62844	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285	T;T;T	0.16196	2.36;2.36;2.36	4.16	4.16	0.48862	.	0.120574	0.53938	D	0.000042	T	0.27384	0.0672	L	0.56769	1.78	0.42316	D	0.992233	B;B	0.32731	0.382;0.331	B;B	0.42319	0.383;0.191	T	0.15838	-1.0423	10	0.62326	D	0.03	-0.0638	16.5944	0.84792	0.0:1.0:0.0:0.0	.	190;190	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	C	190;190;133;190	ENSP00000378269:G190C;ENSP00000296422:G190C;ENSP00000426056:G133C	ENSP00000296422:G190C	G	-	1	0	SLC9B1	104085884	0.992000	0.36948	0.473000	0.27253	0.001000	0.01503	5.039000	0.64185	2.312000	0.78011	0.585000	0.79938	GGT		0.388	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		28	81	1	0	9.39395e-14	0.00632	1.57803e-13	28	81				
SGMS2	166929	broad.mit.edu	37	4	108817003	108817003	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:108817003A>T	ENST00000394684.4	+	3	851	c.294A>T	c.(292-294)acA>acT	p.T98T	RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Silent_p.T98T|SGMS2_ENST00000359079.4_Silent_p.T98T	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	98					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TCATGATCACAGTTGTACATG	0.448																																							uc003hyl.3		NA																	0				lung(1)	1						c.(292-294)ACA>ACT		sphingomyelin synthase 2	Choline(DB00122)						111.0	109.0	110.0					4																	108817003		2203	4300	6503	SO:0001819	synonymous_variant	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108817003A>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.294A>T	4.37:g.108817003A>T						uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.T98T|SGMS2_uc003hyo.2_Silent_p.T98T	p.T98T	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	3	849	+			98			Helical; (Potential).		A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	c.294A>T	CCDS3677.1																																																																																				0.448	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		15	35	0	0	0	0.003163	0	15	35				
EGF	1950	broad.mit.edu	37	4	110897316	110897316	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:110897316G>T	ENST00000265171.5	+	13	2423	c.1978G>T	c.(1978-1980)Gat>Tat	p.D660Y	EGF_ENST00000503392.1_Missense_Mutation_p.D660Y|EGF_ENST00000509793.1_Missense_Mutation_p.D618Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	660					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTACTGGTGCGATGCCAAGCA	0.483																																							uc003hzy.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1978-1980)GAT>TAT		epidermal growth factor precursor	Sulindac(DB00605)						142.0	124.0	130.0					4																	110897316		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110897316G>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1978G>T	4.37:g.110897316G>T	ENSP00000265171:p.Asp660Tyr					EGF_uc011cfu.1_Missense_Mutation_p.D618Y|EGF_uc011cfv.1_Missense_Mutation_p.D660Y	p.D660Y	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	13	2430	+		Hepatocellular(203;0.0893)	660			LDL-receptor class B 9.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1978G>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745353	0.89663	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.99586	-6.23;-6.23;-6.23	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.043692	0.85682	D	0.000000	D	0.99840	0.9927	H	0.98682	4.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96772	0.9569	10	0.87932	D	0	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	660;618;660	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Y	618;660;660	ENSP00000424316:D618Y;ENSP00000265171:D660Y;ENSP00000421384:D660Y	ENSP00000265171:D660Y	D	+	1	0	EGF	111116765	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	5.394000	0.66285	2.723000	0.93209	0.655000	0.94253	GAT		0.483	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			9	42	1	0	0.000274275	0.004482	0.000314197	9	42				
C4orf32	132720	broad.mit.edu	37	4	113108033	113108033	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:113108033G>T	ENST00000309733.5	+	2	522	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	113						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TGGTTCCTTGGCCTGCAAGCC	0.393																																							uc003iah.2		NA																	0					0						c.(337-339)GGC>GTC		chromosome 4 open reading frame 32							240.0	226.0	230.0					4																	113108033		2203	4300	6503	SO:0001583	missense	132720					integral to membrane		g.chr4:113108033G>T	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.338G>T	4.37:g.113108033G>T	ENSP00000310182:p.Gly113Val					C4orf32_uc003iai.2_RNA	p.G113V	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	522	+		Ovarian(17;0.156)	113			Helical; (Potential).		Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	c.338G>T	CCDS3695.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408895	0.83340	.	.	ENSG00000174749	ENST00000309733	T	0.75154	-0.91	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87031	0.2135	10	0.87932	D	0	-13.6341	19.7747	0.96386	0.0:0.0:1.0:0.0	.	113	Q8N8J7	CD032_HUMAN	V	113	ENSP00000310182:G113V	ENSP00000310182:G113V	G	+	2	0	C4orf32	113327482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.184000	0.94893	2.750000	0.94351	0.585000	0.79938	GGC		0.393	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		20	77	1	0	8.00594e-06	0.007413	1.0089e-05	20	77				
ANK2	287	broad.mit.edu	37	4	113970948	113970948	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:113970948A>G	ENST00000357077.4	+	1	117	c.64A>G	c.(64-66)Agg>Ggg	p.R22G	ANK2_ENST00000506722.1_Intron|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000264366.6_Missense_Mutation_p.R22G|ANK2_ENST00000394537.3_Missense_Mutation_p.R22G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	22					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGTAGTCAGAGGAGAAAAAG	0.408																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(64-66)AGG>GGG		ankyrin 2 isoform 1							79.0	85.0	83.0					4																	113970948		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:113970948A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.64A>G	4.37:g.113970948A>G	ENSP00000349588:p.Arg22Gly					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Missense_Mutation_p.R22G|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.R22G	p.R22G	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	1	164	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	22					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.64A>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469459	0.43839	.	.	ENSG00000145362	ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366	T;T;T;T	0.68025	-0.18;-0.26;-0.28;-0.3	5.28	2.88	0.33553	.	0.000000	0.39146	N	0.001457	T	0.67496	0.2899	N	0.19112	0.55	0.27743	N	0.944416	D;B;D	0.76494	0.998;0.274;0.999	D;B;D	0.80764	0.987;0.112;0.994	T	0.62515	-0.6838	10	0.51188	T	0.08	.	11.3753	0.49724	0.6731:0.3269:0.0:0.0	.	22;22;22	Q01484;Q01484-2;Q01484-4	ANK2_HUMAN;.;.	G	22	ENSP00000424722:R22G;ENSP00000378044:R22G;ENSP00000349588:R22G;ENSP00000264366:R22G	ENSP00000264366:R22G	R	+	1	2	ANK2	114190397	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	2.160000	0.42348	0.333000	0.23563	0.533000	0.62120	AGG		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	13	0	0	0	0.000602	0	5	13				
ANK2	287	broad.mit.edu	37	4	114275488	114275488	+	Nonsense_Mutation	SNP	C	C	A	rs368566123		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:114275488C>A	ENST00000357077.4	+	38	5767	c.5714C>A	c.(5713-5715)tCg>tAg	p.S1905*	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.S1872*|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1905	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCACCTGTTTCGCCTTCAGGC	0.493																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5713-5715)TCG>TAG		ankyrin 2 isoform 1							94.0	88.0	90.0					4																	114275488		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275488C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5714C>A	4.37:g.114275488C>A	ENSP00000349588:p.Ser1905*					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.S1920*	p.S1905*	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5814	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1872			Repeat-rich region.|Repeat A.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.5714C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	40	8.329307	0.98762	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.63	4.79	0.61399	.	0.335789	0.21435	N	0.074593	.	.	.	.	.	.	0.24768	N	0.992889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0377	0.42139	0.0:0.8451:0.0:0.1549	.	.	.	.	X	1905;1872	.	.	S	+	2	0	ANK2	114494937	0.203000	0.23435	0.009000	0.14445	0.010000	0.07245	1.650000	0.37292	1.394000	0.46624	-0.126000	0.14955	TCG		0.493	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		16	26	1	0	1.3612e-06	0.003163	1.79244e-06	16	26				
ANK2	287	broad.mit.edu	37	4	114276613	114276613	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:114276613C>A	ENST00000357077.4	+	38	6892	c.6839C>A	c.(6838-6840)cCc>cAc	p.P2280H	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2247H|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2280					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAGAGCATCCCACGACCAAA	0.468																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6838-6840)CCC>CAC		ankyrin 2 isoform 1							39.0	41.0	40.0					4																	114276613		2202	4296	6498	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276613C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6839C>A	4.37:g.114276613C>A	ENSP00000349588:p.Pro2280His					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P2295H	p.P2280H	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6939	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2247					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6839C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884548	0.17467	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66638	-0.21;-0.22	5.79	2.13	0.27403	.	0.628929	0.14906	N	0.291557	T	0.66107	0.2756	L	0.57536	1.79	0.09310	N	0.999999	B;B	0.33857	0.006;0.429	B;P	0.45829	0.002;0.494	T	0.57207	-0.7851	9	.	.	.	.	4.9201	0.13865	0.2592:0.5426:0.0:0.1981	.	2247;2280	Q01484;Q01484-4	ANK2_HUMAN;.	H	2280;2247	ENSP00000349588:P2280H;ENSP00000264366:P2247H	.	P	+	2	0	ANK2	114496062	0.008000	0.16893	0.000000	0.03702	0.056000	0.15407	1.581000	0.36558	0.083000	0.17047	-0.140000	0.14226	CCC		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	33	1	0	0.000673444	0.008291	0.00075369	11	33				
NDST4	64579	broad.mit.edu	37	4	115792057	115792057	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:115792057C>A	ENST00000264363.2	-	7	2264	c.1586G>T	c.(1585-1587)gGg>gTg	p.G529V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	529	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTATATAACCCTAGGCGGTC	0.388																																							uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1585-1587)GGG>GTG		heparan sulfate N-deacetylase/N-sulfotransferase							97.0	106.0	103.0					4																	115792057		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115792057C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1586G>T	4.37:g.115792057C>A	ENSP00000264363:p.Gly529Val					NDST4_uc010imw.2_RNA	p.G529V	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	7	2265	-		Ovarian(17;0.156)	529			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1586G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764570	0.89932	.	.	ENSG00000138653	ENST00000264363	T	0.42900	0.96	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.83118	2.625	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.73408	-0.3992	10	0.87932	D	0	.	18.9631	0.92684	0.0:1.0:0.0:0.0	.	529	Q9H3R1	NDST4_HUMAN	V	529	ENSP00000264363:G529V	ENSP00000264363:G529V	G	-	2	0	NDST4	116011506	1.000000	0.71417	0.510000	0.27712	0.986000	0.74619	7.814000	0.86154	2.477000	0.83638	0.561000	0.74099	GGG		0.388	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	30	1	0	5.4927e-09	0.004482	8.0151e-09	8	30				
SYNPO2	171024	broad.mit.edu	37	4	119948138	119948138	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:119948138A>T	ENST00000429713.2	+	3	796	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	SYNPO2_ENST00000307142.4_Missense_Mutation_p.Q205L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.Q205L|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	205						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCTTTCACAGGAGAGACAT	0.537																																							uc003icm.3		NA																	0				ovary(2)	2						c.(613-615)CAG>CTG		synaptopodin 2 isoform b							39.0	46.0	43.0					4																	119948138		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948138A>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.614A>T	4.37:g.119948138A>T	ENSP00000395143:p.Gln205Leu					SYNPO2_uc010ina.2_Missense_Mutation_p.Q205L|SYNPO2_uc010inb.2_Missense_Mutation_p.Q205L|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.Q133L	p.Q205L	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			3	810	+			205					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.614A>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099755	0.37048	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.08458	3.09;3.09;3.09	5.51	4.28	0.50868	.	0.327133	0.26045	N	0.026665	T	0.09949	0.0244	L	0.57536	1.79	0.42466	D	0.992803	B;B;B;B	0.29805	0.255;0.257;0.255;0.156	B;B;B;B	0.24155	0.023;0.051;0.023;0.023	T	0.05146	-1.0903	10	0.56958	D	0.05	-6.9104	11.4741	0.50286	0.8505:0.1495:0.0:0.0	.	205;205;205;205	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	L	205	ENSP00000306015:Q205L;ENSP00000395143:Q205L;ENSP00000390965:Q205L	ENSP00000306015:Q205L	Q	+	2	0	SYNPO2	120167586	0.954000	0.32549	0.137000	0.22149	0.732000	0.41865	2.444000	0.44890	2.091000	0.63221	0.455000	0.32223	CAG		0.537	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			9	21	0	0	0	0.004482	0	9	21				
KIAA1109	84162	broad.mit.edu	37	4	123161088	123161088	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:123161088A>T	ENST00000264501.4	+	29	4624	c.4251A>T	c.(4249-4251)aaA>aaT	p.K1417N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K1417N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.K1417N			Q2LD37	K1109_HUMAN	KIAA1109	1417	Poly-Lys.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CGGGTAGAAAAAAGAAGAAAA	0.453																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4249-4251)AAA>AAT		fragile site-associated protein							50.0	46.0	48.0					4																	123161088		1850	4100	5950	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123161088A>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4251A>T	4.37:g.123161088A>T	ENSP00000264501:p.Lys1417Asn					KIAA1109_uc003iei.1_Missense_Mutation_p.K1170N|KIAA1109_uc010ins.1_Missense_Mutation_p.K760N|KIAA1109_uc003iek.2_Missense_Mutation_p.K36N	p.K1417N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			27	4296	+			1417			Poly-Lys.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4251A>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666997	0.67814	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.32272	2.06;2.06;1.46	6.05	3.68	0.42216	.	0.000000	0.45606	U	0.000348	T	0.36799	0.0980	N	0.24115	0.695	0.38020	D	0.93481	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.32534	-0.9903	10	0.52906	T	0.07	.	8.7997	0.34901	0.7892:0.0:0.2108:0.0	.	1416;1417	Q2LD37-2;Q2LD37	.;K1109_HUMAN	N	1417	ENSP00000264501:K1417N;ENSP00000373390:K1417N;ENSP00000389925:K1417N	ENSP00000264501:K1417N	K	+	3	2	KIAA1109	123380538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.815000	0.48018	1.124000	0.41980	0.528000	0.53228	AAA		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		9	12	0	0	0	0.004482	0	9	12				
KIAA1109	84162	broad.mit.edu	37	4	123237904	123237904	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:123237904A>T	ENST00000264501.4	+	62	10930	c.10557A>T	c.(10555-10557)cgA>cgT	p.R3519R	KIAA1109_ENST00000388738.3_Silent_p.R3519R|KIAA1109_ENST00000455637.1_Silent_p.R3519R			Q2LD37	K1109_HUMAN	KIAA1109	3519					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGATTATCGAAGACAGGCAG	0.398																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10555-10557)CGA>CGT		fragile site-associated protein							86.0	88.0	87.0					4																	123237904		1906	4117	6023	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123237904A>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10557A>T	4.37:g.123237904A>T						KIAA1109_uc003iel.1_Silent_p.R1454R	p.R3519R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			60	10602	+			3519					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.10557A>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	8.441	0.850754	0.17034	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.48	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4868	0.11794	0.6644:0.0:0.1922:0.1434	.	.	.	.	X	1477	.	.	K	+	1	0	KIAA1109	123457354	0.998000	0.40836	1.000000	0.80357	0.832000	0.47134	0.598000	0.24074	0.340000	0.23745	0.460000	0.39030	AAG		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		20	39	0	0	0	0.002299	0	20	39				
KIAA1109	84162	broad.mit.edu	37	4	123246455	123246455	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:123246455A>G	ENST00000264501.4	+	65	11348	c.10975A>G	c.(10975-10977)Act>Gct	p.T3659A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T3659A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T3659A			Q2LD37	K1109_HUMAN	KIAA1109	3659					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACCTAGAGTAACTTTTAATAT	0.323																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10975-10977)ACT>GCT		fragile site-associated protein							64.0	67.0	66.0					4																	123246455		1807	4065	5872	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123246455A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10975A>G	4.37:g.123246455A>G	ENSP00000264501:p.Thr3659Ala					KIAA1109_uc003iel.1_Missense_Mutation_p.T1594A|KIAA1109_uc003iem.2_Missense_Mutation_p.T29A	p.T3659A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			63	11020	+			3659					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10975A>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.196659|5.196659	0.94960|0.94960	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707	.|T;T;T;T	.|0.42900	.|2.4;2.4;1.55;0.96	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58836|0.58836	0.2150|0.2150	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.64830	.|0.99;0.974;0.994	.|D;D;D	.|0.73380	.|0.98;0.969;0.97	T|T	0.59473|0.59473	-0.7448|-0.7448	5|10	.|0.59425	.|D	.|0.04	.|.	16.3721|16.3721	0.83368|0.83368	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3658;3659;3659	.|Q2LD37-4;Q2LD37-6;Q2LD37	.|.;.;K1109_HUMAN	S|A	1616|3659;3659;3659;342	.|ENSP00000264501:T3659A;ENSP00000373390:T3659A;ENSP00000389925:T3659A;ENSP00000410874:T342A	.|ENSP00000264501:T3659A	N|T	+|+	2|1	0|0	KIAA1109|KIAA1109	123465905|123465905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.885000|8.885000	0.92439|0.92439	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		11	36	0	0	0	0.010729	0	11	36				
FAT4	79633	broad.mit.edu	37	4	126411837	126411837	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:126411837T>C	ENST00000394329.3	+	17	13873	c.13860T>C	c.(13858-13860)taT>taC	p.Y4620Y	FAT4_ENST00000335110.5_Silent_p.Y2861Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4620					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGAGCACTATGACATTGACA	0.488																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13858-13860)TAT>TAC		FAT tumor suppressor homolog 4 precursor							77.0	78.0	78.0					4																	126411837		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411837T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13860T>C	4.37:g.126411837T>C						FAT4_uc011cgp.1_Silent_p.Y2861Y|FAT4_uc003ifi.1_Silent_p.Y2097Y	p.Y4620Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13860	+			4620			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13860T>C	CCDS3732.3																																																																																				0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	49	0	0	0	0.001368	0	12	49				
PCDH10	57575	broad.mit.edu	37	4	134072215	134072215	+	Missense_Mutation	SNP	C	C	A	rs566769897		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:134072215C>A	ENST00000264360.5	+	1	1746	c.920C>A	c.(919-921)aCt>aAt	p.T307N	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGCCGCGCACTGGCAGACTG	0.647																																							uc003iha.2		NA																	0				ovary(2)	2						c.(919-921)ACT>AAT		protocadherin 10 isoform 1 precursor							52.0	51.0	51.0					4																	134072215		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072215C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.920C>A	4.37:g.134072215C>A	ENSP00000264360:p.Thr307Asn					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T307N	p.T307N	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1746	+			307			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.920C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188942	0.57909	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.56275	0.47	4.34	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.000000	0.46758	D	0.000278	T	0.61400	0.2344	M	0.64170	1.965	0.58432	D	0.999999	P;P	0.50819	0.939;0.87	P;P	0.53102	0.666;0.718	T	0.65450	-0.6165	10	0.59425	D	0.04	.	13.8397	0.63430	0.0:0.8453:0.1547:0.0	.	307;307	Q9P2E7;Q96SF0	PCD10_HUMAN;.	N	307	ENSP00000264360:T307N	ENSP00000264360:T307N	T	+	2	0	PCDH10	134291665	0.941000	0.31946	0.973000	0.42090	0.937000	0.57800	2.567000	0.45956	1.000000	0.39049	0.407000	0.27541	ACT		0.647	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		8	48	1	0	1.58986e-06	0.008291	2.08065e-06	8	48				
PCDH10	57575	broad.mit.edu	37	4	134073551	134073551	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:134073551G>A	ENST00000264360.5	+	1	3082	c.2256G>A	c.(2254-2256)ctG>ctA	p.L752L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	752	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATACTTGTCTGGCCAGCGATT	0.592																																							uc003iha.2		NA																	0				ovary(2)	2						c.(2254-2256)CTG>CTA		protocadherin 10 isoform 1 precursor							56.0	62.0	60.0					4																	134073551		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073551G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2256G>A	4.37:g.134073551G>A						PCDH10_uc003igz.2_Silent_p.L752L	p.L752L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3082	+			752			Cys-rich.|Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2256G>A	CCDS34063.1																																																																																				0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	34	0	0	0	0.010729	0	11	34				
PABPC4L	132430	broad.mit.edu	37	4	135122082	135122082	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:135122082G>T	ENST00000421491.3	-	2	349	c.93C>A	c.(91-93)agC>agA	p.S31R	PABPC4L_ENST00000529122.2_Missense_Mutation_p.S89R			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	31	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						GCCCCACAGTGCTGAACTTCC	0.572																																							uc010ioe.2		NA																	0					0						c.(91-93)AGC>AGA		poly(A) binding protein, cytoplasmic 4-like							94.0	88.0	90.0					4																	135122082		692	1591	2283	SO:0001583	missense	132430							g.chr4:135122082G>T	AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.93C>A	4.37:g.135122082G>T	ENSP00000463233:p.Ser31Arg						p.S31R	NM_001114734	NP_001108206					2	350	-									Missense_Mutation	SNP	ENST00000421491.3	37	c.93C>A																																																																																					0.572	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364399.2	NM_001114734		4	2	1	0	0.00909568	0.009096	0.00964006	4	2				
TBC1D9	23158	broad.mit.edu	37	4	141598060	141598060	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:141598060G>T	ENST00000442267.2	-	6	1121	c.1047C>A	c.(1045-1047)atC>atA	p.I349I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	349	GRAM 2.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACGGAGCGGGATAATGAGGC	0.358																																							uc010ioj.2		NA																	0				ovary(1)	1						c.(1045-1047)ATC>ATA		TBC1 domain family, member 9 (with GRAM domain)							84.0	79.0	80.0					4																	141598060		1871	4106	5977	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141598060G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1047C>A	4.37:g.141598060G>T							p.I349I	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			6	1319	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	349			GRAM 2.		A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.1047C>A	CCDS47136.1																																																																																				0.358	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		10	44	1	0	0.000442599	0.006214	0.000502282	10	44				
SMARCA5	8467	broad.mit.edu	37	4	144442691	144442691	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:144442691A>T	ENST00000283131.3	+	3	824	c.362A>T	c.(361-363)aAa>aTa	p.K121I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	121					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTGAAGATGAAACCAGGGCGC	0.383																																							uc003ijg.2		NA																	0				skin(1)	1						c.(361-363)AAA>ATA		SWI/SNF-related matrix-associated							55.0	56.0	55.0					4																	144442691		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144442691A>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.362A>T	4.37:g.144442691A>T	ENSP00000283131:p.Lys121Ile						p.K121I	NM_003601	NP_003592	O60264	SMCA5_HUMAN			3	824	+	all_hematologic(180;0.158)		121						Missense_Mutation	SNP	ENST00000283131.3	37	c.362A>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883406	0.91740	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91686	-2.89	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	L	0.54323	1.7	0.80722	D	1	P	0.52692	0.955	P	0.53450	0.726	D	0.92983	0.6408	10	0.46703	T	0.11	0.088	16.07	0.80919	1.0:0.0:0.0:0.0	.	121	O60264	SMCA5_HUMAN	I	121;64;64	ENSP00000283131:K121I	ENSP00000283131:K121I	K	+	2	0	SMARCA5	144662141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.386000	0.79775	2.254000	0.74563	0.533000	0.62120	AAA		0.383	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			9	25	0	0	0	0.006214	0	9	25				
GYPE	2996	broad.mit.edu	37	4	144797935	144797935	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:144797935G>T	ENST00000358615.4	-	3	261	c.210C>A	c.(208-210)atC>atA	p.I70I	GYPE_ENST00000437468.2_Silent_p.I70I	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	70						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					AAATTAAGATGATCATTCCAA	0.383																																							uc003ijj.2		NA																	0					0						c.(208-210)ATC>ATA		glycophorin E precursor							121.0	113.0	116.0					4																	144797935		1993	4214	6207	SO:0001819	synonymous_variant	2996					integral to plasma membrane		g.chr4:144797935G>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.210C>A	4.37:g.144797935G>T						GYPE_uc010ion.2_Intron|GYPE_uc003ijk.3_Silent_p.I70I	p.I70I	NM_198682	NP_941391	P15421	GLPE_HUMAN			3	266	-	all_hematologic(180;0.158)		70			Helical; (Potential).		D3DNZ5	Silent	SNP	ENST00000358615.4	37	c.210C>A	CCDS47138.1																																																																																				0.383	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		3	18	1	0	0.004672	0.004672	0.00503002	3	18				
GYPB	2994	broad.mit.edu	37	4	145039884	145039884	+	Intron	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:145039884T>A	ENST00000283126.7	-	1	93				GYPA_ENST00000324022.10_Missense_Mutation_p.H52L|GYPA_ENST00000360771.4_Missense_Mutation_p.H85L|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.H59L|GYPA_ENST00000504786.1_Missense_Mutation_p.H53L|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.H20L|GYPA_ENST00000503627.1_Intron			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGAGAAATGATGGGCAAGTTG	0.313																																							uc003ijo.3		NA																	0				central_nervous_system(2)	2						c.(253-255)CAT>CTT		glycophorin A precursor							109.0	109.0	109.0					4																	145039884		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145039884T>A		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21867A>T	4.37:g.145039884T>A						GYPA_uc003ijn.2_Missense_Mutation_p.H85L|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.H52L|GYPA_uc003ijp.3_Missense_Mutation_p.H53L|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Missense_Mutation_p.H20L|GYPA_uc010ios.1_Intron	p.H85L	NM_002099	NP_002090	P02724	GLPA_HUMAN			4	370	-	all_hematologic(180;0.15)		85			Extracellular.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.254A>T		.	.	.	.	.	.	.	.	.	.	T	9.261	1.043323	0.19748	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512789;ENST00000504786;ENST00000394119	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	3.94	1.33	0.21861	.	0.000000	0.42682	D	0.000668	T	0.35711	0.0941	M	0.68952	2.095	0.09310	N	1	D;D;D;B;D	0.89917	0.996;0.992;0.999;0.007;1.0	D;D;D;B;D	0.72338	0.934;0.912;0.955;0.022;0.977	T	0.08743	-1.0707	10	0.87932	D	0	-13.6461	4.5091	0.11903	0.1971:0.0:0.2052:0.5976	.	52;20;53;85;85	B8Q185;Q13030;E7EQF3;P02724;Q16336	.;.;.;GLPA_HUMAN;.	L	85;52;59;20;53;53	ENSP00000354003:H85L;ENSP00000324483:H52L;ENSP00000445398:H59L;ENSP00000425193:H20L;ENSP00000425549:H53L	ENSP00000324483:H52L	H	-	2	0	GYPA	145259334	0.029000	0.19370	0.000000	0.03702	0.001000	0.01503	1.046000	0.30354	0.288000	0.22398	0.482000	0.46254	CAT		0.313	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		11	48	0	0	0	0.001855	0	11	48				
ZNF827	152485	broad.mit.edu	37	4	146806953	146806953	+	Missense_Mutation	SNP	C	C	A	rs371905111		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:146806953C>A	ENST00000508784.1	-	4	1851	c.1624G>T	c.(1624-1626)Gac>Tac	p.D542Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.D542Y|ZNF827_ENST00000513320.1_Missense_Mutation_p.D192Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	542					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)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCGGGCCTGTCGGCAGCATTC	0.572																																							uc003ikn.2		NA																	0					0						c.(1624-1626)GAC>TAC		zinc finger protein 827							76.0	76.0	76.0					4																	146806953		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146806953C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1624G>T	4.37:g.146806953C>A	ENSP00000421863:p.Asp542Tyr					ZNF827_uc003ikm.2_Missense_Mutation_p.D542Y|ZNF827_uc010iox.2_Missense_Mutation_p.D192Y	p.D542Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			4	1672	-	all_hematologic(180;0.151)		542					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1624G>T		.	.	.	.	.	.	.	.	.	.	C	23.7	4.445668	0.84101	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.08807	3.09;3.05;3.13	5.62	5.62	0.85841	.	0.219510	0.45606	D	0.000343	T	0.16041	0.0386	N	0.14661	0.345	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.986;0.992	D;P;P	0.64595	0.927;0.775;0.888	T	0.09207	-1.0685	10	0.72032	D	0.01	-24.0523	19.6523	0.95822	0.0:1.0:0.0:0.0	.	192;542;542	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	Y	542;192;542;541;192	ENSP00000421863:D542Y;ENSP00000423130:D192Y;ENSP00000368761:D542Y	ENSP00000281318:D541Y	D	-	1	0	ZNF827	147026403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.072000	0.76777	2.650000	0.89964	0.561000	0.74099	GAC		0.572	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		13	39	1	0	4.93089e-13	0.00245	8.17806e-13	13	39				
FBXW7	55294	broad.mit.edu	37	4	153268138	153268138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:153268138G>A	ENST00000281708.4	-	4	1899	c.670C>T	c.(670-672)Cga>Tga	p.R224*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R224*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R48*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R144*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R106*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R224*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	224					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R224*(5)|p.R106*(1)|p.R144*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GATGTAATTCGGCGTCGTTGT	0.448			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																		uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		8	Substitution - Nonsense(7)|Unknown(1)	p.R224*(3)	endometrium(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(670-672)CGA>TGA		F-box and WD repeat domain containing 7 isoform							193.0	178.0	183.0					4																	153268138		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153268138G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.670C>T	4.37:g.153268138G>A	ENSP00000281708:p.Arg224*					FBXW7_uc011cii.1_Nonsense_Mutation_p.R224*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R224*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R48*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R144*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R106*	p.R224*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			4	819	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	224					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.670C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.218578	0.97385	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.83	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-13.0477	9.5051	0.39042	0.0666:0.0:0.6691:0.2643	.	.	.	.	X	224;106;144;48	.	ENSP00000263981:R144X	R	-	1	2	FBXW7	153487588	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.504000	0.60414	0.338000	0.23692	-0.309000	0.09137	CGA		0.448	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			17	64	0	0	0	0.006122	0	17	64				
SFRP2	6423	broad.mit.edu	37	4	154707014	154707014	+	Splice_Site	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:154707014A>T	ENST00000274063.4	-	2	868		c.e2+1			NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2						bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TGTATTACTTACCAAAATCAT	0.318																																							uc003inv.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e2+1		secreted frizzled-related protein 2 precursor							131.0	120.0	124.0					4																	154707014		2202	4299	6501	SO:0001630	splice_region_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154707014A>T	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.583+1T>A	4.37:g.154707014A>T							p.A195_splice	NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN			2	824	-	all_hematologic(180;0.093)	Renal(120;0.117)						B3KQR2|O14778|Q9HAP5	Splice_Site	SNP	ENST00000274063.4	37	c.583_splice	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093682	0.76870	.	.	ENSG00000145423	ENST00000274063	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8412	0.78845	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFRP2	154926464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.027000	0.93706	2.202000	0.70862	0.533000	0.62120	.		0.318	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1		Intron	3	15	0	0	0	0.004672	0	3	15				
FGB	2244	broad.mit.edu	37	4	155487640	155487640	+	Splice_Site	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:155487640G>A	ENST00000302068.4	+	3	369		c.e3-1		FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_Splice_Site	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTTGTTTTTAGGGGGTGTTGT	0.388																																					NSCLC(106;1133 1613 21870 46110 52656)	NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.e3-1		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						101.0	94.0	96.0					4																	155487640		2203	4300	6503	SO:0001630	splice_region_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487640G>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.307-1G>A	4.37:g.155487640G>A						FGB_uc010ipu.1_Splice_Site|FGB_uc003iob.3_Splice_Site_p.G100_splice|FGB_uc010ipv.2_Intron|FGB_uc010ipw.2_Splice_Site_p.G100_splice|FGB_uc003ioc.3_Intron	p.G103_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN			3	346	+	all_hematologic(180;0.215)	Renal(120;0.0458)						A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Splice_Site	SNP	ENST00000302068.4	37	c.307_splice	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883101	0.72410	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9768	0.80071	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGB	155707090	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	7.209000	0.77916	2.628000	0.89032	0.650000	0.86243	.		0.388	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	Intron	6	39	0	0	0	0.001984	0	6	39				
LRAT	9227	broad.mit.edu	37	4	155666013	155666013	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:155666013G>C	ENST00000336356.3	+	2	788	c.535G>C	c.(535-537)Gac>Cac	p.D179H	LRAT_ENST00000507827.1_Missense_Mutation_p.D179H	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	179					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCCCCAGTCCGACAAGGTATG	0.577																																							uc003iom.1		NA																	0				central_nervous_system(1)	1						c.(535-537)GAC>CAC		lecithin retinol acyltransferase	Vitamin A(DB00162)						53.0	57.0	56.0					4																	155666013		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155666013G>C	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.535G>C	4.37:g.155666013G>C	ENSP00000337224:p.Asp179His					uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.D179H	p.D179H	NM_004744	NP_004735	O95237	LRAT_HUMAN			1	862	+	all_hematologic(180;0.215)	Renal(120;0.0458)	179			Cytoplasmic (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.535G>C	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372607	0.61624	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.47177	0.85;0.85	5.54	5.54	0.83059	NC (1);	0.231260	0.50627	D	0.000103	T	0.58278	0.2111	L	0.50333	1.59	0.43364	D	0.995444	D	0.61080	0.989	P	0.54590	0.756	T	0.54357	-0.8306	10	0.38643	T	0.18	-45.0139	19.4818	0.95013	0.0:0.0:1.0:0.0	.	179	O95237	LRAT_HUMAN	H	179	ENSP00000426761:D179H;ENSP00000337224:D179H	ENSP00000337224:D179H	D	+	1	0	LRAT	155885463	1.000000	0.71417	0.956000	0.39512	0.260000	0.26232	7.689000	0.84165	2.603000	0.88011	0.555000	0.69702	GAC		0.577	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		15	49	0	0	0	0.008871	0	15	49				
GUCY1A3	2982	broad.mit.edu	37	4	156651182	156651182	+	Splice_Site	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:156651182A>T	ENST00000296518.7	+	10	2081	c.1872A>T	c.(1870-1872)agA>agT	p.R624S	GUCY1A3_ENST00000513574.1_Splice_Site_p.R624S|GUCY1A3_ENST00000511108.1_Splice_Site_p.R624S|GUCY1A3_ENST00000506455.1_Splice_Site_p.R624S|GUCY1A3_ENST00000455639.2_Splice_Site_p.R624S|GUCY1A3_ENST00000393832.3_Splice_Site_p.R366S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	624					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATATTTTCAGATTACTCAAAG	0.363																																							uc003iov.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1870-1872)AGA>AGT		guanylate cyclase 1, soluble, alpha 3 isoform A							52.0	54.0	54.0					4																	156651182		2202	4299	6501	SO:0001630	splice_region_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156651182A>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1872-1A>T	4.37:g.156651182A>T						GUCY1A3_uc003iow.2_Missense_Mutation_p.R624S|GUCY1A3_uc010iqd.2_Missense_Mutation_p.R623S|GUCY1A3_uc003iox.2_Missense_Mutation_p.R624S|GUCY1A3_uc003ioz.2_Missense_Mutation_p.R389S|GUCY1A3_uc003ioy.2_Missense_Mutation_p.R624S|GUCY1A3_uc010iqe.2_Missense_Mutation_p.R389S|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.R624S	p.R624S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	11	2408	+	all_hematologic(180;0.24)	Renal(120;0.0854)	624					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1872A>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461356	0.43736	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	6.14	-2.08	0.07254	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000003	T	0.72598	0.3480	L	0.42008	1.315	0.80722	D	1	B;B	0.29508	0.246;0.246	B;B	0.35655	0.207;0.207	T	0.61153	-0.7120	9	.	.	.	.	14.1368	0.65293	0.4704:0.0:0.5295:0.0	.	624;624	B3KU69;Q02108	.;GCYA3_HUMAN	S	624;624;624;366;624;624	ENSP00000424361:R624S;ENSP00000421493:R624S;ENSP00000412201:R624S;ENSP00000377418:R366S;ENSP00000296518:R624S;ENSP00000426040:R624S	.	R	+	3	2	GUCY1A3	156870632	0.696000	0.27757	0.966000	0.40874	0.612000	0.37316	-0.018000	0.12568	-0.295000	0.08960	0.519000	0.50382	AGA		0.363	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		Missense_Mutation	3	26	0	0	0	0.004672	0	3	26				
GLRB	2743	broad.mit.edu	37	4	158091864	158091864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:158091864G>A	ENST00000264428.4	+	10	1748	c.1478G>A	c.(1477-1479)tGg>tAg	p.W493*	GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000509282.1_Nonsense_Mutation_p.W493*|GLRB_ENST00000541722.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	493					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTTATATATTGGTCTATATAT	0.338																																							uc003ipj.2		NA																	0				skin(2)	2						c.(1477-1479)TGG>TAG		glycine receptor, beta isoform A precursor	Glycine(DB00145)						61.0	64.0	63.0					4																	158091864		2203	4299	6502	SO:0001587	stop_gained	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158091864G>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1478G>A	4.37:g.158091864G>A	ENSP00000264428:p.Trp493*						p.W493*	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	10	1680	+	all_hematologic(180;0.24)	Renal(120;0.0458)	493			Helical; (Probable).		A8K3K2|D3DP23|F5GWE1	Nonsense_Mutation	SNP	ENST00000264428.4	37	c.1478G>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	38	7.000631	0.97994	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	.	.	.	X	493	.	ENSP00000264428:W493X	W	+	2	0	GLRB	158311314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	TGG		0.338	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		3	32	0	0	0	0.004672	0	3	32				
RAPGEF2	9693	broad.mit.edu	37	4	160253760	160253760	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:160253760A>T	ENST00000264431.4	+	11	1982	c.1563A>T	c.(1561-1563)aaA>aaT	p.K521N		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	521					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGAACAAAAAAAGTAAAGCCA	0.408																																							uc003iqg.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1561-1563)AAA>AAT		Rap guanine nucleotide exchange factor 2							96.0	89.0	91.0					4																	160253760		1907	4135	6042	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160253760A>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1563A>T	4.37:g.160253760A>T	ENSP00000264431:p.Lys521Asn						p.K521N	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	11	1873	+	all_hematologic(180;0.24)		521					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.1563A>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.53|19.53	3.845693|3.845693	0.71603|0.71603	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000512056	T|.	0.45668|.	0.89|.	5.24|5.24	4.06|4.06	0.47325|0.47325	Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.64283|.	0.2584|.	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.67145|.	0.996|.	D|.	0.63703|.	0.917|.	T|.	0.65030|.	-0.6267|.	10|.	0.66056|0.66056	D|D	0.02|0.02	.|.	8.3335|8.3335	0.32200|0.32200	0.8471:0.0:0.1529:0.0|0.8471:0.0:0.1529:0.0	.|.	521|.	Q9Y4G8|.	RPGF2_HUMAN|.	N|X	521|159	ENSP00000264431:K521N|.	ENSP00000264431:K521N|ENSP00000421624:K159X	K|K	+|+	3|1	2|0	RAPGEF2|RAPGEF2	160473210|160473210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.906000|0.906000	0.28517|0.28517	0.945000|0.945000	0.37605|0.37605	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.408	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		5	27	0	0	0	0.000602	0	5	27				
FSTL5	56884	broad.mit.edu	37	4	162307033	162307033	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:162307033C>A	ENST00000306100.5	-	16	2846	c.2410G>T	c.(2410-2412)Ggc>Tgc	p.G804C	FSTL5_ENST00000427802.2_Missense_Mutation_p.G794C|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803C|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803C|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	804						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAAACAAGCCACTGTCCTGG	0.443																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2410-2412)GGC>TGC		follistatin-like 5 isoform a							209.0	191.0	197.0					4																	162307033		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307033C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2410G>T	4.37:g.162307033C>A	ENSP00000305334:p.Gly804Cys					FSTL5_uc003iqi.2_Missense_Mutation_p.G803C|FSTL5_uc010iqv.2_Missense_Mutation_p.G794C|uc010iqu.1_RNA	p.G804C	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2846	-	all_hematologic(180;0.24)		804					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2410G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319615	0.81469	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.73	5.73	0.89815	.	0.044902	0.85682	D	0.000000	T	0.61324	0.2338	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.62714	-0.6796	10	0.51188	T	0.08	.	18.8882	0.92388	0.0:1.0:0.0:0.0	.	794;803;804	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	C	804;803;794;803	ENSP00000305334:G804C;ENSP00000368462:G803C;ENSP00000389270:G794C;ENSP00000440409:G803C	ENSP00000305334:G804C	G	-	1	0	FSTL5	162526483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.700000	0.92200	0.655000	0.94253	GGC		0.443	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		14	72	1	0	9.31168e-06	0.001855	1.16912e-05	14	72				
MARCH1	55016	broad.mit.edu	37	4	164534510	164534510	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:164534510G>T	ENST00000503008.1	-	5	1174	c.198C>A	c.(196-198)agC>agA	p.S66R	MARCH1_ENST00000339875.5_Missense_Mutation_p.S49R|MARCH1_ENST00000514618.1_Missense_Mutation_p.S66R|MARCH1_ENST00000274056.7_Missense_Mutation_p.S66R	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	66	Responsible for low stability. {ECO:0000250}.				antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCTTGACTGGCTCCTGGGAG	0.413																																							uc003iqs.1		NA																	0				lung(2)	2						c.(196-198)AGC>AGA		membrane-associated RING-CH protein I							117.0	112.0	114.0					4																	164534510		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164534510G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.198C>A	4.37:g.164534510G>T	ENSP00000427223:p.Ser66Arg					MARCH1_uc003iqr.1_Missense_Mutation_p.S49R	p.S66R	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			5	1175	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	66			Responsible for low stability (By similarity).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.198C>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540129	0.27563	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.52754	1.72;1.72;0.65;1.35;1.81	6.06	1.44	0.22558	.	0.244361	0.42821	D	0.000647	T	0.28067	0.0692	N	0.19112	0.55	0.38192	D	0.939938	B;B	0.14805	0.011;0.004	B;B	0.17722	0.01;0.019	T	0.06197	-1.0840	10	0.39692	T	0.17	-21.9249	6.5466	0.22410	0.3774:0.0:0.5127:0.1098	.	66;49	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	R	66;66;66;49;66	ENSP00000274056:S66R;ENSP00000427223:S66R;ENSP00000421322:S66R;ENSP00000345676:S49R;ENSP00000426731:S66R	ENSP00000274056:S66R	S	-	3	2	MARCH1	164753960	1.000000	0.71417	0.999000	0.59377	0.759000	0.43091	0.815000	0.27253	0.160000	0.19432	-1.202000	0.01658	AGC		0.413	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		7	69	1	0	2.7689e-08	0.001984	3.94231e-08	7	69				
CPE	1363	broad.mit.edu	37	4	166405746	166405746	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:166405746C>A	ENST00000402744.4	+	5	1243	c.963C>A	c.(961-963)agC>agA	p.S321R		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	321					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTGGTACAGCGTACCTGGAG	0.453																																							uc003irg.3		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(961-963)AGC>AGA		carboxypeptidase E preproprotein	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						228.0	210.0	216.0					4																	166405746		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405746C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.963C>A	4.37:g.166405746C>A	ENSP00000386104:p.Ser321Arg						p.S321R	NM_001873	NP_001864	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1240	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	321					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.963C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468328	0.63625	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.10960	2.82	5.67	-7.94	0.01152	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.56220	-0.8015	10	0.87932	D	0	-20.1803	18.5382	0.91018	0.0:0.634:0.0:0.366	.	321	P16870	CBPE_HUMAN	R	321;285	ENSP00000386104:S321R	ENSP00000261510:S285R	S	+	3	2	CPE	166625196	0.061000	0.20836	0.220000	0.23810	0.594000	0.36715	-0.741000	0.04855	-1.810000	0.01230	-1.835000	0.00590	AGC		0.453	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		47	159	1	0	5.34276e-22	0.00361	9.92643e-22	47	159				
TLL1	7092	broad.mit.edu	37	4	166929094	166929094	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:166929094G>T	ENST00000061240.2	+	7	1458		c.e7-1		TLL1_ENST00000507499.1_Splice_Site|TLL1_ENST00000513213.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTGGTTCTTAGGTCAAGAGTA	0.403																																							uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.e7-1		tolloid-like 1 precursor							85.0	86.0	86.0					4																	166929094		2203	4300	6503	SO:0001630	splice_region_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166929094G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.812-1G>T	4.37:g.166929094G>T						TLL1_uc011cjn.1_Splice_Site_p.G271_splice|TLL1_uc011cjo.1_Splice_Site_p.G95_splice	p.G271_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	7	1459	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)						B2RMU2|Q96AN3|Q9NQS4	Splice_Site	SNP	ENST00000061240.2	37	c.812_splice	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286303	0.59867	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9969	0.92817	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLL1	167148544	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	9.810000	0.99221	2.488000	0.83962	0.650000	0.86243	.		0.403	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		Intron	12	35	1	0	5.50884e-06	0.001368	6.94735e-06	12	35				
PALLD	23022	broad.mit.edu	37	4	169846183	169846183	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:169846183G>C	ENST00000505667.1	+	20	3485	c.3312G>C	c.(3310-3312)aaG>aaC	p.K1104N	PALLD_ENST00000335742.7_Missense_Mutation_p.K929N|PALLD_ENST00000512127.1_Missense_Mutation_p.K705N|PALLD_ENST00000507735.1_Missense_Mutation_p.K600N|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.K1087N			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1311					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGTCAGCCAAGAATGAAGCAG	0.463									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	0				ovary(1)	1						c.(3310-3312)AAG>AAC		palladin isoform 2							131.0	128.0	129.0					4																	169846183		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169846183G>C	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.3312G>C	4.37:g.169846183G>C	ENSP00000425556:p.Lys1104Asn					CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.K1087N|PALLD_uc003irv.2_Missense_Mutation_p.K705N|PALLD_uc003irw.2_Missense_Mutation_p.K589N|PALLD_uc003irx.2_Missense_Mutation_p.K313N	p.K1104N	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	20	3523	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1311			Ig-like C2-type 5.|Interaction with EZR.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.3312G>C	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.800742|4.800742	0.90538|0.90538	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000503290|ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	.|T;T;T;T;T	.|0.68624	.|-0.34;-0.34;-0.34;-0.34;-0.34	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.33438	.|U	.|0.004904	T|T	0.72590|0.72590	0.3479|0.3479	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.998;0.999	T|T	0.68796|0.68796	-0.5314|-0.5314	5|10	.|0.25751	.|T	.|0.34	.|.	19.8275|19.8275	0.96624|0.96624	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1104;1311;705;1087	.|B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.|.;PALLD_HUMAN;.;.	Q|N	141|1087;929;1104;705;600	.|ENSP00000261509:K1087N;ENSP00000336735:K929N;ENSP00000425556:K1104N;ENSP00000426947:K705N;ENSP00000424016:K600N	.|ENSP00000261509:K1087N	E|K	+|+	1|3	0|2	PALLD|PALLD	170082758|170082758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.772000|0.772000	0.43724|0.43724	8.018000|8.018000	0.88722|0.88722	2.684000|2.684000	0.91462|0.91462	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.463	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		8	39	0	0	0	0.004482	0	8	39				
CLCN3	1182	broad.mit.edu	37	4	170613336	170613336	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:170613336C>G	ENST00000513761.1	+	7	1360	c.801C>G	c.(799-801)atC>atG	p.I267M	CLCN3_ENST00000360642.3_Missense_Mutation_p.I267M|CLCN3_ENST00000504131.2_Missense_Mutation_p.I250M|CLCN3_ENST00000347613.4_Missense_Mutation_p.I267M	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	267					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTAAAACCATCACATTAGTCC	0.388																																							uc003isi.2		NA																	0				breast(2)|ovary(1)	3						c.(799-801)ATC>ATG		chloride channel 3 isoform b							174.0	170.0	171.0					4																	170613336		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170613336C>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.801C>G	4.37:g.170613336C>G	ENSP00000424603:p.Ile267Met					CLCN3_uc003ish.2_Missense_Mutation_p.I267M|CLCN3_uc011cjz.1_Missense_Mutation_p.I250M|CLCN3_uc011cka.1_Missense_Mutation_p.I267M|CLCN3_uc003isj.1_Missense_Mutation_p.I240M	p.I267M	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	7	1310	+		Prostate(90;0.00601)|Renal(120;0.0183)	267			Helical; (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.801C>G	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925323	0.34002	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	6.14	3.1	0.35709	Chloride channel, core (2);	0.282198	0.44688	D	0.000434	D	0.93259	0.7852	M	0.64404	1.975	0.43617	D	0.995999	B;B;B;B;B	0.19073	0.009;0.033;0.004;0.009;0.026	B;B;B;B;B	0.32149	0.089;0.141;0.056;0.032;0.059	D	0.90870	0.4745	10	0.52906	T	0.07	-1.7431	12.9146	0.58199	0.0:0.7462:0.0:0.2538	.	267;250;240;267;267	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	M	267;267;267;250;240	ENSP00000424603:I267M;ENSP00000261514:I267M;ENSP00000353857:I267M;ENSP00000424540:I250M;ENSP00000425323:I240M	ENSP00000261514:I267M	I	+	3	3	CLCN3	170849911	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.636000	0.37144	0.944000	0.37579	0.650000	0.86243	ATC		0.388	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			19	114	0	0	0	0.007413	0	19	114				
ASB5	140458	broad.mit.edu	37	4	177143474	177143474	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:177143474G>T	ENST00000296525.3	-	3	487	c.374C>A	c.(373-375)gCa>gAa	p.A125E	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A72E	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	125					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATTAGCTCCTGCTTCCAGCAG	0.418																																							uc003iuq.1		NA																	0				skin(2)	2						c.(373-375)GCA>GAA		ankyrin repeat and SOCS box-containing protein							96.0	91.0	93.0					4																	177143474		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177143474G>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.374C>A	4.37:g.177143474G>T	ENSP00000296525:p.Ala125Glu					ASB5_uc003iup.1_Missense_Mutation_p.A72E	p.A125E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	3	390	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	125			ANK 2.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.374C>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888435	0.72524	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.65364	-0.15;-0.15	5.62	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.269635	0.42294	D	0.000726	T	0.71617	0.3361	L	0.47078	1.49	0.58432	D	0.999997	D;D	0.76494	0.989;0.999	P;D	0.70935	0.856;0.971	T	0.72950	-0.4136	10	0.52906	T	0.07	-7.282	13.0304	0.58839	0.0745:0.0:0.9255:0.0	.	125;72	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	E	125;72	ENSP00000296525:A125E;ENSP00000422877:A72E	ENSP00000296525:A125E	A	-	2	0	ASB5	177380468	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	4.868000	0.63021	1.520000	0.48965	0.585000	0.79938	GCA		0.418	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			20	36	1	0	5.35267e-07	0.007413	7.15935e-07	20	36				
VEGFC	7424	broad.mit.edu	37	4	177608561	177608561	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:177608561C>T	ENST00000280193.2	-	6	1340	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	309	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E309*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGTCTAGTTCTTTGTGGGGT	0.507																																							uc003ius.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	lung(5)	5						c.(925-927)GAA>AAA		vascular endothelial growth factor C							151.0	135.0	140.0					4																	177608561		1924	4143	6067	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608561C>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.925G>A	4.37:g.177608561C>T	ENSP00000280193:p.Glu309Lys						p.E309K	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1355	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	309			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|2.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.925G>A	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734740	0.69189	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.87	5.87	0.94306	.	0.114600	0.64402	D	0.000009	T	0.76535	0.4001	M	0.69823	2.125	0.49582	D	0.999801	D	0.61697	0.99	P	0.60173	0.87	T	0.71623	-0.4537	9	0.28530	T	0.3	-23.2265	20.2227	0.98327	0.0:1.0:0.0:0.0	.	309	P49767	VEGFC_HUMAN	K	309	.	ENSP00000280193:E309K	E	-	1	0	VEGFC	177845555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.850000	0.48294	2.778000	0.95560	0.650000	0.86243	GAA		0.507	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		39	49	0	0	0	0.00623	0	39	49				
TRAPPC11	60684	broad.mit.edu	37	4	184612552	184612552	+	Silent	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:184612552A>C	ENST00000334690.6	+	19	2179	c.1977A>C	c.(1975-1977)ctA>ctC	p.L659L	TRAPPC11_ENST00000512476.1_Silent_p.L265L|TRAPPC11_ENST00000357207.4_Silent_p.L659L	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	659					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AGATGTGCCTAGTTCCTGGCA	0.323																																							uc003ivx.2		NA																	0					0						c.(1975-1977)CTA>CTC		hypothetical protein LOC60684 isoform a							77.0	77.0	77.0					4																	184612552		2203	4300	6503	SO:0001819	synonymous_variant	60684							g.chr4:184612552A>C		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1977A>C	4.37:g.184612552A>C						C4orf41_uc003ivw.2_Silent_p.L659L|C4orf41_uc010isc.2_Silent_p.L3L|C4orf41_uc003ivy.2_Silent_p.L265L	p.L659L	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	19	2153	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	659					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.1977A>C	CCDS34112.1																																																																																				0.323	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		7	26	0	0	0	0.001984	0	7	26				
FAM149A	25854	broad.mit.edu	37	4	187086567	187086567	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:187086567C>G	ENST00000356371.5	+	11	1986	c.1986C>G	c.(1984-1986)gtC>gtG	p.V662V	FAM149A_ENST00000227065.4_Silent_p.V371V|FAM149A_ENST00000503432.1_Silent_p.V371V|FAM149A_ENST00000389354.5_Silent_p.V371V|FAM149A_ENST00000502970.1_Silent_p.V371V|FAM149A_ENST00000514153.1_Silent_p.V371V			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	662										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCCCGCTAGTCACGGAGACCA	0.532																																							uc003iyt.3		NA																	0				breast(1)	1						c.(1111-1113)GTC>GTG		hypothetical protein LOC25854							109.0	101.0	104.0					4																	187086567		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187086567C>G	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1986C>G	4.37:g.187086567C>G						FAM149A_uc011cla.1_Silent_p.V371V|FAM149A_uc003iyu.3_Silent_p.V371V|FAM149A_uc010isl.2_Silent_p.V371V|FAM149A_uc011clb.1_Silent_p.V371V	p.V371V	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	11	1692	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	662					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.1113C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.314|0.314	-0.965868|-0.965868	0.02249|0.02249	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000512271|ENST00000510843	.|.	.|.	.|.	5.55|5.55	4.7|4.7	0.59300|0.59300	.|.	.|.	.|.	.|.	.|.	T|.	0.36166|.	0.0957|.	.|.	.|.	.|.	0.25194|0.25194	N|N	0.990107|0.990107	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23013|.	-1.0200|.	4|.	.|.	.|.	.|.	-4.3495|-4.3495	7.6619|7.6619	0.28409|0.28409	0.0:0.7491:0.1664:0.0845|0.0:0.7491:0.1664:0.0845	.|.	.|.	.|.	.|.	D|X	49|49	.|.	.|.	H|S	+|+	1|2	0|0	FAM149A|FAM149A	187323561|187323561	0.015000|0.015000	0.18098|0.18098	0.187000|0.187000	0.23214|0.23214	0.001000|0.001000	0.01503|0.01503	0.051000|0.051000	0.14141|0.14141	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.532	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		9	40	0	0	0	0.008291	0	9	40				
KLKB1	3818	broad.mit.edu	37	4	187172752	187172752	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:187172752G>A	ENST00000264690.6	+	9	1167	c.980G>A	c.(979-981)cGc>cAc	p.R327H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R327H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	327	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R327H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAGATGATTCGCTGTCAGTTT	0.353																																							uc003iyy.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(979-981)CGC>CAC		plasma kallikrein B1 precursor							94.0	101.0	98.0					4																	187172752		2202	4300	6502	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187172752G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.980G>A	4.37:g.187172752G>A	ENSP00000264690:p.Arg327His					KLKB1_uc011clc.1_Missense_Mutation_p.R125H|KLKB1_uc011cld.1_Missense_Mutation_p.R289H	p.R327H	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	9	1051	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	327			Apple 4.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.980G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.92|15.92	2.976451|2.976451	0.53720|0.53720	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.89681	.|-2.55;-2.55	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.92090|0.92090	0.7493|0.7493	L|L	0.37897|0.37897	1.145|1.145	0.41896|0.41896	D|D	0.990397|0.990397	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.983;0.996;0.98	D|D	0.92657|0.92657	0.6138|0.6138	5|10	.|0.59425	.|D	.|0.04	.|.	19.2757|19.2757	0.94030|0.94030	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;327;327	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	T|H	375|327;327;289	.|ENSP00000264690:R327H;ENSP00000424469:R327H	.|ENSP00000264690:R327H	A|R	+|+	1|2	0|0	KLKB1|KLKB1	187409746|187409746	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.105000|0.105000	0.19272|0.19272	4.237000|4.237000	0.58681|0.58681	2.621000|2.621000	0.88768|0.88768	0.645000|0.645000	0.84053|0.84053	GCT|CGC		0.353	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		7	41	0	0	0	0.00308	0	7	41				
FAT1	2195	broad.mit.edu	37	4	187517714	187517714	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:187517714C>A	ENST00000441802.2	-	25	13189	c.12980G>T	c.(12979-12981)aGc>aTc	p.S4327I	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4327					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAAGTCCCAGCTAGGCTTCTG	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12979-12981)AGC>ATC		FAT tumor suppressor 1 precursor							46.0	49.0	48.0					4																	187517714		2003	4171	6174	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187517714C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12980G>T	4.37:g.187517714C>A	ENSP00000406229:p.Ser4327Ile	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.S218I	p.S4327I	NM_005245	NP_005236	Q14517	FAT1_HUMAN			25	13168	-			4327			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.12980G>T	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299417|1.299417	0.23650|0.23650	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772	T|.	0.71341|.	-0.56|.	5.37|5.37	-10.7|-10.7	0.00240|0.00240	.|.	0.357463|.	0.37809|.	N|.	0.001939|.	T|.	0.50257|.	0.1605|.	L|L	0.56769|0.56769	1.78|1.78	0.29957|0.29957	N|N	0.819714|0.819714	P|.	0.43662|.	0.814|.	B|.	0.39876|.	0.312|.	T|.	0.59026|.	-0.7531|.	10|.	0.56958|.	D|.	0.05|.	.|.	14.2742|14.2742	0.66170|0.66170	0.0:0.3119:0.0732:0.6149|0.0:0.3119:0.0732:0.6149	.|.	4327|.	Q14517|.	FAT1_HUMAN|.	I|Y	4327;4329|94	ENSP00000406229:S4327I|.	ENSP00000260147:S4329I|.	S|X	-|-	2|3	0|2	FAT1|FAT1	187754708|187754708	0.413000|0.413000	0.25400|0.25400	0.000000|0.000000	0.03702|0.03702	0.395000|0.395000	0.30598|0.30598	-0.286000|-0.286000	0.08399|0.08399	-2.801000|-2.801000	0.00352|0.00352	-0.145000|-0.145000	0.13849|0.13849	AGC|TAG		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	28	1	0	4.7546e-09	0.004007	6.98602e-09	15	28				
FAT1	2195	broad.mit.edu	37	4	187627857	187627857	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:187627857G>A	ENST00000441802.2	-	2	3334	c.3125C>T	c.(3124-3126)aCa>aTa	p.T1042I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1042	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCTTTCACTGTCCCCTTTTC	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3124-3126)ACA>ATA		FAT tumor suppressor 1 precursor							129.0	129.0	129.0					4																	187627857		2002	4168	6170	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187627857G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3125C>T	4.37:g.187627857G>A	ENSP00000406229:p.Thr1042Ile	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.T1042I	p.T1042I	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	3313	-			1042			Extracellular (Potential).|Cadherin 9.			Missense_Mutation	SNP	ENST00000441802.2	37	c.3125C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	0.134	-1.109521	0.01813	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53857	0.6	4.8	-5.12	0.02893	Cadherin (3);Cadherin-like (1);	1.233210	0.05440	N	0.547446	T	0.43809	0.1264	L	0.45228	1.405	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40346	-0.9568	10	0.39692	T	0.17	.	12.859	0.57903	0.4987:0.0:0.5013:0.0	.	1042	Q14517	FAT1_HUMAN	I	1042	ENSP00000406229:T1042I	ENSP00000260147:T1042I	T	-	2	0	FAT1	187864851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.418000	0.21230	-0.907000	0.03862	-1.327000	0.01280	ACA		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	78	0	0	0	0.00245	0	14	78				
TRIML1	339976	broad.mit.edu	37	4	189067976	189067976	+	Splice_Site	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:189067976C>T	ENST00000332517.3	+	6	997	c.857C>T	c.(856-858)aCg>aTg	p.T286M	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T286K(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTCTTGCAGCGGAGATAACG	0.468																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(856-858)ACG>ATG		tripartite motif family-like 1							136.0	141.0	140.0					4																	189067976		2203	4300	6503	SO:0001630	splice_region_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189067976C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.857-1C>T	4.37:g.189067976C>T						TRIML1_uc003izn.1_Missense_Mutation_p.T10M	p.T286M	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	972	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	286			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.857C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	5.800	0.331962	0.10956	.	.	ENSG00000184108	ENST00000332517	T	0.04706	3.57	4.92	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.529823	0.17498	N	0.172104	T	0.03871	0.0109	N	0.21097	0.63	0.43267	D	0.995216	B	0.24258	0.1	B	0.11329	0.006	T	0.50684	-0.8799	9	.	.	.	.	13.2939	0.60286	0.0:0.8394:0.1606:0.0	.	286	Q8N9V2	TRIML_HUMAN	M	286	ENSP00000327738:T286M	.	T	+	2	0	TRIML1	189304970	0.076000	0.21285	0.906000	0.35671	0.155000	0.21991	0.465000	0.22004	2.749000	0.94314	0.550000	0.68814	ACG		0.468	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	Missense_Mutation	36	117	0	0	0	0.005524	0	36	117				
TUBB7P	56604	broad.mit.edu	37	4	190903699	190903699	+	IGR	SNP	C	C	A	rs368793877		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr4:190903699C>A								FRG1 (19340 upstream) : RNA5SP174 (32593 downstream)																							CTCCCTCGGCCGTGGCATCCT	0.532																																							uc011clg.1		NA																	0					0						c.(1279-1281)ACG>ACT		tubulin, beta polypeptide 4, member Q							129.0	150.0	143.0					4																	190903699		2203	4300	6503	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190903699C>A																													4.37:g.190903699C>A							p.T427T	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	1284	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	428						Silent	SNP		37	c.1281G>T																																																																																				0	0.532									65	90	1	0	2.15133e-10	0.00361	3.29483e-10	65	90				
ADAMTS16	170690	broad.mit.edu	37	5	5303493	5303493	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:5303493A>G	ENST00000274181.7	+	19	3040	c.2902A>G	c.(2902-2904)Agc>Ggc	p.S968G		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	968	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTCCCGGCCAGCCTGTGCCC	0.697																																							uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2902-2904)AGC>GGC		ADAM metallopeptidase with thrombospondin type 1							7.0	10.0	9.0					5																	5303493		1976	4112	6088	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303493A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2902A>G	5.37:g.5303493A>G	ENSP00000274181:p.Ser968Gly					ADAMTS16_uc003jdk.1_Missense_Mutation_p.S968G	p.S968G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			19	3040	+			968			TSP type-1 3.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2902A>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732792	0.48939	.	.	ENSG00000145536	ENST00000274181	T	0.54279	0.58	4.97	2.3	0.28687	.	0.431824	0.24191	N	0.040714	T	0.44414	0.1292	L	0.45422	1.42	0.28162	N	0.928922	B;P	0.41366	0.202;0.747	B;P	0.44772	0.183;0.46	T	0.33033	-0.9884	10	0.45353	T	0.12	.	5.4321	0.16458	0.7566:0.0:0.0889:0.1545	.	968;968	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	G	968	ENSP00000274181:S968G	ENSP00000274181:S968G	S	+	1	0	ADAMTS16	5356493	0.517000	0.26226	0.941000	0.38009	0.339000	0.28857	0.743000	0.26231	0.814000	0.34374	0.528000	0.53228	AGC		0.697	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		10	31	0	0	0	0.006214	0	10	31				
ICE1	23379	broad.mit.edu	37	5	5461238	5461238	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:5461238A>G	ENST00000296564.7	+	13	2013	c.1791A>G	c.(1789-1791)gaA>gaG	p.E597E		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		597					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGAAAAAGAAGATACTCAAG	0.398																																							uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1789-1791)GAA>GAG		hypothetical protein LOC23379							100.0	100.0	100.0					5																	5461238		1867	4103	5970	SO:0001819	synonymous_variant	23379							g.chr5:5461238A>G																												ENST00000296564.7:c.1791A>G	5.37:g.5461238A>G							p.E597E	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	2013	+			597					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.1791A>G	CCDS47187.1																																																																																				0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			19	227	0	0	0	0.008871	0	19	227				
ADCY2	108	broad.mit.edu	37	5	7414860	7414860	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:7414860G>T	ENST00000338316.4	+	2	474	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	129					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTGTTTTGGAGGCACCGTCTC	0.443																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(385-387)GGC>TGC		adenylate cyclase 2							218.0	187.0	197.0					5																	7414860		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7414860G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.385G>T	5.37:g.7414860G>T	ENSP00000342952:p.Gly129Cys						p.G129C	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			2	452	+			129					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.385G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834299	0.50951	.	.	ENSG00000078295	ENST00000338316	T	0.77620	-1.11	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.86805	0.1994	10	0.87932	D	0	.	15.8194	0.78628	0.0:0.0:1.0:0.0	.	129	Q08462	ADCY2_HUMAN	C	129	ENSP00000342952:G129C	ENSP00000342952:G129C	G	+	1	0	ADCY2	7467860	1.000000	0.71417	0.637000	0.29366	0.011000	0.07611	9.016000	0.93645	2.481000	0.83766	0.563000	0.77884	GGC		0.443	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		46	79	1	0	1.61572e-30	0.010771	3.10365e-30	46	79				
ADCY2	108	broad.mit.edu	37	5	7784551	7784551	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:7784551C>T	ENST00000338316.4	+	19	2547	c.2458C>T	c.(2458-2460)Ctg>Ttg	p.L820L	ADCY2_ENST00000537121.1_Silent_p.L640L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	820					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTGCTTGTTCTGGGTAGACA	0.373																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2458-2460)CTG>TTG		adenylate cyclase 2							150.0	144.0	146.0					5																	7784551		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7784551C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2458C>T	5.37:g.7784551C>T						ADCY2_uc011cmo.1_Silent_p.L640L|ADCY2_uc010itm.1_Silent_p.L16L	p.L820L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			19	2525	+			820			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2458C>T	CCDS3872.2																																																																																				0.373	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		10	109	0	0	0	0.008291	0	10	109				
ADCY2	108	broad.mit.edu	37	5	7789875	7789875	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:7789875G>A	ENST00000338316.4	+	20	2679	c.2590G>A	c.(2590-2592)Gtg>Atg	p.V864M	ADCY2_ENST00000537121.1_Missense_Mutation_p.V684M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	864					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCCGCGCACGTGGCTGAGCA	0.587																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2590-2592)GTG>ATG		adenylate cyclase 2							47.0	46.0	47.0					5																	7789875		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789875G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2590G>A	5.37:g.7789875G>A	ENSP00000342952:p.Val864Met					ADCY2_uc011cmo.1_Missense_Mutation_p.V684M|ADCY2_uc010itm.1_Missense_Mutation_p.V60M	p.V864M	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			20	2657	+			864			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2590G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	32	5.147471	0.94603	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.91464	-2.43;-2.85	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97769	1.0225	10	0.87932	D	0	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	684;864	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	864;17;697;684	ENSP00000342952:V864M;ENSP00000444803:V684M	ENSP00000342952:V864M	V	+	1	0	ADCY2	7842875	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.509000	0.98002	2.547000	0.85894	0.591000	0.81541	GTG		0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		20	99	0	0	0	0.007413	0	20	99				
SEMA5A	9037	broad.mit.edu	37	5	9066568	9066568	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:9066568C>A	ENST00000382496.5	-	17	2929	c.2264G>T	c.(2263-2265)tGt>tTt	p.C755F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	755	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTCGCTAGAACAGTACCGCAT	0.537																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2263-2265)TGT>TTT		semaphorin 5A precursor							177.0	170.0	172.0					5																	9066568		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066568C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2264G>T	5.37:g.9066568C>A	ENSP00000371936:p.Cys755Phe						p.C755F	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2976	-			755			TSP type-1 4.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2264G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531721	0.85706	.	.	ENSG00000112902	ENST00000382496	T	0.41758	0.99	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67074	-0.5762	10	0.87932	D	0	.	17.5918	0.87999	0.0:1.0:0.0:0.0	.	755	Q13591	SEM5A_HUMAN	F	755	ENSP00000371936:C755F	ENSP00000371936:C755F	C	-	2	0	SEMA5A	9119568	1.000000	0.71417	0.990000	0.47175	0.713000	0.41058	7.511000	0.81718	2.761000	0.94854	0.591000	0.81541	TGT		0.537	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			44	293	1	0	7.88023e-25	0.00361	1.49513e-24	44	293				
SEMA5A	9037	broad.mit.edu	37	5	9136667	9136667	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:9136667C>T	ENST00000382496.5	-	13	2213	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	516					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCTCTCCTCCAGGCTTGTGC	0.552																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1546-1548)CTG>CTA		semaphorin 5A precursor							116.0	95.0	102.0					5																	9136667		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9136667C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1548G>A	5.37:g.9136667C>T							p.L516L	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			13	2260	-			516			Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1548G>A	CCDS3875.1																																																																																				0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			23	111	0	0	0	0.002299	0	23	111				
DNAH5	1767	broad.mit.edu	37	5	13752338	13752338	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:13752338T>C	ENST00000265104.4	-	64	11037	c.10933A>G	c.(10933-10935)Agg>Ggg	p.R3645G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3645	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCAAAGGCCTTCCAAGAGAA	0.408									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10933-10935)AGG>GGG		dynein, axonemal, heavy chain 5							150.0	135.0	140.0					5																	13752338		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13752338T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10933A>G	5.37:g.13752338T>C	ENSP00000265104:p.Arg3645Gly					DNAH5_uc003jfc.2_5'UTR	p.R3645G	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			64	10975	-	Lung NSC(4;0.00476)		3645			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10933A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957608	0.73902	.	.	ENSG00000039139	ENST00000265104	T	0.21361	2.01	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.74647	2.275	0.80722	D	1	D	0.54964	0.969	P	0.62298	0.9	T	0.30563	-0.9974	10	0.41790	T	0.15	.	16.2988	0.82793	0.0:0.0:0.0:1.0	.	3645	Q8TE73	DYH5_HUMAN	G	3645	ENSP00000265104:R3645G	ENSP00000265104:R3645G	R	-	1	2	DNAH5	13805338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.512000	0.45485	2.311000	0.77944	0.533000	0.62120	AGG		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	143	0	0	0	0.004007	0	14	143				
FAM105A	54491	broad.mit.edu	37	5	14610259	14610259	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:14610259T>C	ENST00000274217.3	+	8	1027	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	303	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GATTGATATGTTTATACTTGG	0.448																																							uc003jfj.2		NA																	0				ovary(1)	1						c.(907-909)TTT>CTT		hypothetical protein LOC54491							107.0	109.0	108.0					5																	14610259		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14610259T>C		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.907T>C	5.37:g.14610259T>C	ENSP00000274217:p.Phe303Leu						p.F303L	NM_019018	NP_061891	Q9NUU6	F105A_HUMAN			8	1020	+	Lung NSC(4;0.00592)		303					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.907T>C	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463550	0.63513	.	.	ENSG00000145569	ENST00000274217	T	0.17854	2.25	5.03	5.03	0.67393	.	0.469539	0.21192	N	0.078623	T	0.17831	0.0428	L	0.42245	1.32	0.53688	D	0.99997	B	0.06786	0.001	B	0.09377	0.004	T	0.02070	-1.1219	10	0.54805	T	0.06	-10.1813	14.778	0.69743	0.0:0.0:0.0:1.0	.	303	Q9NUU6	F105A_HUMAN	L	303	ENSP00000274217:F303L	ENSP00000274217:F303L	F	+	1	0	FAM105A	14663259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.982000	0.56909	1.885000	0.54596	0.533000	0.62120	TTT		0.448	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		21	112	0	0	0	0.00278	0	21	112				
FBXL7	23194	broad.mit.edu	37	5	15928016	15928016	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:15928016C>T	ENST00000504595.1	+	3	626	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	FBXL7_ENST00000510662.1_Missense_Mutation_p.R2C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R37C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	49					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTGAGCATGCGCACACTGAG	0.567																																							uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(145-147)CGC>TGC		F-box and leucine-rich repeat protein 7							89.0	97.0	94.0					5																	15928016		2075	4217	6292	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928016C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.145C>T	5.37:g.15928016C>T	ENSP00000423630:p.Arg49Cys						p.R49C	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	626	+			49					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.145C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070494	0.76301	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.12774	2.83;2.65;2.83	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.02411	-1.1163	10	0.62326	D	0.03	.	19.2506	0.93923	0.0:1.0:0.0:0.0	.	49	Q9UJT9	FBXL7_HUMAN	C	49;2;37	ENSP00000423630:R49C;ENSP00000425184:R2C;ENSP00000329632:R37C	ENSP00000329632:R37C	R	+	1	0	FBXL7	15981016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.280000	0.58959	2.571000	0.86741	0.563000	0.77884	CGC		0.567	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		19	184	0	0	0	0.012319	0	19	184				
FBXL7	23194	broad.mit.edu	37	5	15928503	15928503	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:15928503G>T	ENST00000504595.1	+	3	1113	c.632G>T	c.(631-633)tGc>tTc	p.C211F	FBXL7_ENST00000510662.1_Missense_Mutation_p.C164F|FBXL7_ENST00000329673.7_Missense_Mutation_p.C199F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	211					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCCAGTGCTGCCCCGAACTG	0.582																																							uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(631-633)TGC>TTC		F-box and leucine-rich repeat protein 7							67.0	67.0	67.0					5																	15928503		2074	4199	6273	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928503G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.632G>T	5.37:g.15928503G>T	ENSP00000423630:p.Cys211Phe						p.C211F	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	1113	+			211			LRR 2.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.632G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183397	0.57800	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.38240	1.15;1.15;1.15	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.89214	3.015	0.80722	D	1	D	0.54772	0.968	P	0.49922	0.626	T	0.67998	-0.5525	10	0.59425	D	0.04	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	211	Q9UJT9	FBXL7_HUMAN	F	211;164;199	ENSP00000423630:C211F;ENSP00000425184:C164F;ENSP00000329632:C199F	ENSP00000329632:C199F	C	+	2	0	FBXL7	15981503	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.520000	0.84964	0.561000	0.74099	TGC		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		9	86	1	0	5.4927e-09	0.004482	8.0151e-09	9	86				
MARCH11	441061	broad.mit.edu	37	5	16177928	16177928	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:16177928C>T	ENST00000332432.8	-	2	799	c.600G>A	c.(598-600)ctG>ctA	p.L200L	RP11-19O2.2_ENST00000509037.1_RNA|MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	200					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TCCATTTTAGCAGGCACAGCT	0.438																																							uc003jfo.2		NA																	0					0						c.(598-600)CTG>CTA		membrane-associated ring finger (C3HC4) 11							106.0	103.0	104.0					5																	16177928		1931	4139	6070	SO:0001819	synonymous_variant	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177928C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.600G>A	5.37:g.16177928C>T						uc003jfp.2_5'Flank	p.L200L	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			2	813	-			200			RING-CH-type.		A7E2S6	Silent	SNP	ENST00000332432.8	37	c.600G>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	8.271	0.813453	0.16537	.	.	ENSG00000183654	ENST00000507111	.	.	.	5.68	3.8	0.43715	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54309	-0.8313	4	.	.	.	-8.8477	9.5562	0.39339	0.3598:0.415:0.2252:0.0	.	.	.	.	Y	4	.	.	C	-	2	0	MARCH11	16230928	0.048000	0.20356	0.997000	0.53966	0.993000	0.82548	-0.732000	0.04904	0.674000	0.31244	0.655000	0.94253	TGC		0.438	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		31	78	0	0	0	0.002836	0	31	78				
BASP1	10409	broad.mit.edu	37	5	17275863	17275863	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:17275863G>T	ENST00000322611.3	+	2	798	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	180					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CTCGGAGGCTGCCCCCTCTTC	0.667																																							uc003jfx.2		NA																	0					0						c.(538-540)GCC>TCC		brain abundant, membrane attached signal protein							9.0	13.0	12.0					5																	17275863		2164	4241	6405	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275863G>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.538G>T	5.37:g.17275863G>T	ENSP00000319281:p.Ala180Ser						p.A180S	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	717	+			180					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.538G>T	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800571	0.50315	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.58060	0.36	4.51	4.51	0.55191	.	0.000000	0.50627	U	0.000110	T	0.58878	0.2153	L	0.54323	1.7	0.48040	D	0.999576	P	0.48089	0.905	P	0.50314	0.637	T	0.63283	-0.6672	10	0.54805	T	0.06	-12.9258	15.7977	0.78424	0.0:0.0:1.0:0.0	.	180	P80723	BASP1_HUMAN	S	180;126	ENSP00000319281:A180S	ENSP00000319281:A180S	A	+	1	0	BASP1	17328863	1.000000	0.71417	0.966000	0.40874	0.737000	0.42083	3.005000	0.49521	2.053000	0.61076	0.491000	0.48974	GCC		0.667	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			6	53	1	0	5.9392e-07	0.001168	7.92515e-07	6	53				
CDH18	1016	broad.mit.edu	37	5	19612661	19612661	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:19612661A>T	ENST00000507958.1	-	8	1683	c.693T>A	c.(691-693)caT>caA	p.H231Q	CDH18_ENST00000502796.1_Missense_Mutation_p.H231Q|CDH18_ENST00000274170.4_Missense_Mutation_p.H231Q|CDH18_ENST00000506372.1_Missense_Mutation_p.H231Q|CDH18_ENST00000382275.1_Missense_Mutation_p.H231Q|CDH18_ENST00000511273.1_Missense_Mutation_p.H231Q			Q13634	CAD18_HUMAN	cadherin 18, type 2	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTACGGAGTAATGTTCTCTGG	0.393																																							uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(691-693)CAT>CAA		cadherin 18, type 2 preproprotein							165.0	153.0	157.0					5																	19612661		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612661A>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.693T>A	5.37:g.19612661A>T	ENSP00000425093:p.His231Gln					CDH18_uc003jgd.2_Missense_Mutation_p.H231Q|CDH18_uc011cnm.1_Missense_Mutation_p.H231Q	p.H231Q	NM_004934	NP_004925	Q13634	CAD18_HUMAN			5	1070	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		231			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.693T>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	3.905	-0.021332	0.07634	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.95	3.02	0.34903	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	N	0.01417	-0.88	0.44030	D	0.996758	B;B	0.15719	0.014;0.009	B;B	0.20577	0.03;0.017	T	0.04495	-1.0947	9	.	.	.	.	8.7042	0.34345	0.3455:0.0:0.6545:0.0	.	231;231	B4DHG6;Q13634	.;CAD18_HUMAN	Q	231;231;231;231;231;231;177;231	ENSP00000371710:H231Q;ENSP00000425093:H231Q;ENSP00000274170:H231Q;ENSP00000424931:H231Q;ENSP00000422138:H231Q;ENSP00000427383:H177Q;ENSP00000425854:H231Q	.	H	-	3	2	CDH18	19648418	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.752000	0.26362	0.317000	0.23160	-0.468000	0.05107	CAT		0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		11	81	0	0	0	0.001368	0	11	81				
CDH12	1010	broad.mit.edu	37	5	21765189	21765189	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:21765189G>T	ENST00000382254.1	-	12	2499	c.1413C>A	c.(1411-1413)agC>agA	p.S471R	CDH12_ENST00000522262.1_Missense_Mutation_p.S431R|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S471R|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	471	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATTGACTTTGCTGGTCAATA	0.328										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(1411-1413)AGC>AGA		cadherin 12, type 2 preproprotein							67.0	67.0	67.0					5																	21765189		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21765189G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1413C>A	5.37:g.21765189G>T	ENSP00000371689:p.Ser471Arg	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.S431R|CDH12_uc003jgk.2_Missense_Mutation_p.S471R|uc003jgj.2_Intron	p.S471R	NM_004061	NP_004052	P55289	CAD12_HUMAN			9	1871	-			471			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1413C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866085	0.71949	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.54866	0.55;0.55;0.55	5.46	4.59	0.56863	Cadherin (5);Cadherin-like (1);	0.035883	0.85682	D	0.000000	T	0.75824	0.3902	M	0.91354	3.2	0.58432	D	0.999993	B;D	0.64830	0.431;0.994	B;D	0.63192	0.445;0.912	T	0.82390	-0.0481	10	0.72032	D	0.01	.	14.5452	0.68024	0.0706:0.0:0.9294:0.0	.	431;471	B7Z2U6;P55289	.;CAD12_HUMAN	R	471;471;431	ENSP00000423577:S471R;ENSP00000371689:S471R;ENSP00000428786:S431R	ENSP00000371689:S471R	S	-	3	2	CDH12	21800946	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.082000	0.41605	1.449000	0.47699	0.637000	0.83480	AGC		0.328	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		19	39	1	0	6.49762e-13	0.006122	1.07138e-12	19	39				
CDH10	1008	broad.mit.edu	37	5	24498512	24498512	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:24498512C>A	ENST00000264463.4	-	9	2017	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTACCTGCCCTGGTCTGGCA	0.388										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1510-1512)GGG>TGG		cadherin 10, type 2 preproprotein							57.0	55.0	56.0					5																	24498512		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498512C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1510G>T	5.37:g.24498512C>A	ENSP00000264463:p.Gly504Trp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G504W	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1842	-			504			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1510G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231604	0.58777	.	.	ENSG00000040731	ENST00000264463	T	0.69306	-0.39	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.113703	0.64402	D	0.000016	D	0.87755	0.6257	H	0.95816	3.725	0.49483	D	0.999796	D	0.89917	1.0	D	0.91635	0.999	D	0.91101	0.4914	10	0.87932	D	0	.	18.4486	0.90695	0.0:1.0:0.0:0.0	.	504	Q9Y6N8	CAD10_HUMAN	W	504	ENSP00000264463:G504W	ENSP00000264463:G504W	G	-	1	0	CDH10	24534269	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.655000	0.67981	2.613000	0.88420	0.655000	0.94253	GGG		0.388	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		34	24	1	0	8.73648e-17	0.004289	1.54548e-16	34	24				
CDH10	1008	broad.mit.edu	37	5	24535843	24535843	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:24535843C>G	ENST00000264463.4	-	4	1122	c.615G>C	c.(613-615)ggG>ggC	p.G205G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	205	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATAGGGCTGCCCTTGAAGTA	0.443										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(613-615)GGG>GGC		cadherin 10, type 2 preproprotein							127.0	117.0	121.0					5																	24535843		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535843C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.615G>C	5.37:g.24535843C>G		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G205G	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	947	-			205			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.615G>C	CCDS3892.1																																																																																				0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		14	64	0	0	0	0.00245	0	14	64				
CDH10	1008	broad.mit.edu	37	5	24537582	24537582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:24537582C>A	ENST00000264463.4	-	3	940	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	145	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E145K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCACAAACTCTGACTCTGGC	0.423										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(433-435)GAG>TAG		cadherin 10, type 2 preproprotein							156.0	150.0	152.0					5																	24537582		2203	4300	6503	SO:0001587	stop_gained	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537582C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.433G>T	5.37:g.24537582C>A	ENSP00000264463:p.Glu145*	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.E145*	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	765	-			145			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Nonsense_Mutation	SNP	ENST00000264463.4	37	c.433G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	40	8.055530	0.98632	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0796	0.93177	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000264463:E145X	E	-	1	0	CDH10	24573339	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.758000	0.94735	0.557000	0.71058	GAG		0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		24	181	1	0	7.92952e-12	0.003954	1.26337e-11	24	181				
CDH9	1007	broad.mit.edu	37	5	26881700	26881700	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:26881700G>T	ENST00000231021.4	-	12	2087	c.1915C>A	c.(1915-1917)Caa>Aaa	p.Q639K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	639					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTTTCTTTGCCTCTTCAAT	0.393																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1915-1917)CAA>AAA		cadherin 9, type 2 preproprotein							59.0	62.0	61.0					5																	26881700		2202	4300	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881700G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1915C>A	5.37:g.26881700G>T	ENSP00000231021:p.Gln639Lys					CDH9_uc011cnv.1_Missense_Mutation_p.Q232K	p.Q639K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2084	-			639			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1915C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933346	0.73442	.	.	ENSG00000113100	ENST00000231021	T	0.75589	-0.95	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	M	0.70903	2.155	0.54753	D	0.999986	B;D	0.61080	0.281;0.989	P;D	0.62955	0.528;0.909	D	0.84177	0.0437	9	.	.	.	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	232;639	B4DFP0;Q9ULB4	.;CADH9_HUMAN	K	639	ENSP00000231021:Q639K	.	Q	-	1	0	CDH9	26917457	1.000000	0.71417	0.966000	0.40874	0.587000	0.36485	9.534000	0.98061	2.447000	0.82792	0.557000	0.71058	CAA		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		32	40	1	0	2.61193e-14	0.009535	4.46709e-14	32	40				
MTMR12	54545	broad.mit.edu	37	5	32229899	32229899	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:32229899G>A	ENST00000382142.3	-	16	2399	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000280285.5_Silent_p.D689D|MTMR12_ENST00000264934.5_Silent_p.D633D	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	743						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CATCCCCTAGGTCCACGAACT	0.507																																							uc003jhq.2		NA																	0				ovary(1)	1						c.(2227-2229)GAC>GAT		myotubularin related protein 12							145.0	129.0	134.0					5																	32229899		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32229899G>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2229C>T	5.37:g.32229899G>A						MTMR12_uc010iuk.2_Silent_p.D689D|MTMR12_uc010iul.2_Silent_p.D633D	p.D743D	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			16	2399	-			743					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.2229C>T	CCDS34138.1																																																																																				0.507	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		18	87	0	0	0	0.006122	0	18	87				
MTMR12	54545	broad.mit.edu	37	5	32243643	32243643	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:32243643A>T	ENST00000382142.3	-	11	1254	c.1084T>A	c.(1084-1086)Tgg>Agg	p.W362R	MTMR12_ENST00000280285.5_Missense_Mutation_p.W362R|MTMR12_ENST00000264934.5_Missense_Mutation_p.W362R	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	362	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGTCAAGCCAGCTGCTACTT	0.333																																							uc003jhq.2		NA																	0				ovary(1)	1						c.(1084-1086)TGG>AGG		myotubularin related protein 12							106.0	107.0	106.0					5																	32243643		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32243643A>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1084T>A	5.37:g.32243643A>T	ENSP00000371577:p.Trp362Arg					MTMR12_uc010iuk.2_Missense_Mutation_p.W362R|MTMR12_uc010iul.2_Missense_Mutation_p.W362R	p.W362R	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			11	1254	-			362			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1084T>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637247	0.87760	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.98987	-5.3;-5.3;-5.3	5.91	5.91	0.95273	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.91635	0.999;0.981;0.958	D	0.98487	1.0608	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	362;362;362	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	R	362	ENSP00000280285:W362R;ENSP00000371577:W362R;ENSP00000264934:W362R	ENSP00000264934:W362R	W	-	1	0	MTMR12	32279400	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.370000	0.79589	2.254000	0.74563	0.533000	0.62120	TGG		0.333	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		13	64	0	0	0	0.001368	0	13	64				
MTMR12	54545	broad.mit.edu	37	5	32263282	32263282	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:32263282C>A	ENST00000382142.3	-	7	820	c.650G>T	c.(649-651)cGg>cTg	p.R217L	MTMR12_ENST00000280285.5_Missense_Mutation_p.R217L|MTMR12_ENST00000264934.5_Missense_Mutation_p.R217L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	217	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCCTTTGGTCCGTTCCAGTTC	0.418																																							uc003jhq.2		NA																	0				ovary(1)	1						c.(649-651)CGG>CTG		myotubularin related protein 12							360.0	289.0	313.0					5																	32263282		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32263282C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.650G>T	5.37:g.32263282C>A	ENSP00000371577:p.Arg217Leu					MTMR12_uc010iuk.2_Missense_Mutation_p.R217L|MTMR12_uc010iul.2_Missense_Mutation_p.R217L	p.R217L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			7	820	-			217			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.650G>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610253	0.87258	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95980	-3.87;-3.87;-3.87	5.55	4.68	0.58851	Myotubularin phosphatase domain (1);	0.000000	0.64402	D	0.000001	D	0.97888	0.9306	M	0.88105	2.93	0.58432	D	0.99999	P;D;D	0.89917	0.675;1.0;1.0	P;D;D	0.87578	0.477;0.998;0.995	D	0.98648	1.0678	10	0.87932	D	0	.	14.4982	0.67704	0.0:0.9296:0.0:0.0704	.	217;217;217	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	L	217	ENSP00000280285:R217L;ENSP00000371577:R217L;ENSP00000264934:R217L	ENSP00000264934:R217L	R	-	2	0	MTMR12	32299039	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.245000	0.65405	1.352000	0.45808	0.650000	0.86243	CGG		0.418	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		25	157	1	0	2.79863e-10	0.004656	4.27848e-10	25	157				
MTMR12	54545	broad.mit.edu	37	5	32263287	32263287	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:32263287C>A	ENST00000382142.3	-	7	815	c.645G>T	c.(643-645)ctG>ctT	p.L215L	MTMR12_ENST00000280285.5_Silent_p.L215L|MTMR12_ENST00000264934.5_Silent_p.L215L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	215	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.L215L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGTCCGTTCCAGTTCCCAAC	0.423																																							uc003jhq.2		NA																	1	Substitution - coding silent(1)		ovary(1)	ovary(1)	1						c.(643-645)CTG>CTT		myotubularin related protein 12							346.0	278.0	301.0					5																	32263287		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32263287C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.645G>T	5.37:g.32263287C>A						MTMR12_uc010iuk.2_Silent_p.L215L|MTMR12_uc010iul.2_Silent_p.L215L	p.L215L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			7	815	-			215			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.645G>T	CCDS34138.1																																																																																				0.423	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		26	153	1	0	2.12542e-12	0.00632	3.4709e-12	26	153				
NPR3	4883	broad.mit.edu	37	5	32739067	32739067	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:32739067T>A	ENST00000265074.8	+	3	1333	c.990T>A	c.(988-990)ccT>ccA	p.P330P	NPR3_ENST00000415685.2_Silent_p.P114P|NPR3_ENST00000415167.2_Silent_p.P330P|NPR3_ENST00000434067.2_Silent_p.P114P	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	330					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CAGTGAAACCTGAGTTTGAGA	0.448																																							uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(988-990)CCT>CCA		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						132.0	128.0	129.0					5																	32739067		1880	4107	5987	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32739067T>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.990T>A	5.37:g.32739067T>A						NPR3_uc010iuo.2_Silent_p.P114P|NPR3_uc011cnz.1_Silent_p.P114P|NPR3_uc003jhu.2_Silent_p.P330P	p.P330P	NM_000908	NP_000899	P17342	ANPRC_HUMAN			3	1208	+			330			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.990T>A	CCDS56357.1																																																																																				0.448	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		19	119	0	0	0	0.006122	0	19	119				
ADAMTS12	81792	broad.mit.edu	37	5	33616005	33616005	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:33616005A>T	ENST00000504830.1	-	15	2651	c.2316T>A	c.(2314-2316)ttT>ttA	p.F772L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.F687L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	772	Spacer 1.				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)			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						TGTCATACTGAAAGACAGTCC	0.478										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2314-2316)TTT>TTA		ADAM metallopeptidase with thrombospondin type 1							146.0	129.0	135.0					5																	33616005		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33616005A>T	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.2316T>A	5.37:g.33616005A>T	ENSP00000422554:p.Phe772Leu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.F687L	p.F772L	NM_030955	NP_112217	P58397	ATS12_HUMAN			15	2479	-			772			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2316T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234508	0.79800	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.49720	0.77;0.77	5.51	1.22	0.21188	ADAM-TS Spacer 1 (1);	0.046212	0.85682	D	0.000000	T	0.51261	0.1664	L	0.41124	1.26	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.85130	0.997;0.759	T	0.41466	-0.9507	10	0.16420	T	0.52	.	8.8106	0.34965	0.7303:0.0:0.2697:0.0	.	687;772	P58397-3;P58397	.;ATS12_HUMAN	L	772;687	ENSP00000422554:F772L;ENSP00000344847:F687L	ENSP00000344847:F687L	F	-	3	2	ADAMTS12	33651762	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	1.394000	0.34509	0.235000	0.21160	0.459000	0.35465	TTT		0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		11	125	0	0	0	0.008291	0	11	125				
C1QTNF3	114899	broad.mit.edu	37	5	34035752	34035752	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:34035752C>A	ENST00000231338.7	-	2	283	c.196G>T	c.(196-198)Gga>Tga	p.G66*	C1QTNF3_ENST00000513065.1_5'Flank|RP11-1084J3.4_ENST00000382079.3_Splice_Site_p.G50*|C1QTNF3_ENST00000382065.3_Splice_Site_p.G139*	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	66	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCATCCTTACCTGGAATGCCA	0.522																																							uc003jin.2		NA																	0					0						c.(196-198)GGA>TGA		C1q and tumor necrosis factor related protein 3							38.0	40.0	40.0					5																	34035752		2203	4299	6502	SO:0001630	splice_region_variant	114899					collagen		g.chr5:34035752C>A	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.196+1G>T	5.37:g.34035752C>A						C1QTNF3_uc003jio.2_Nonsense_Mutation_p.G139*	p.G66*	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN			2	283	-	all_lung(31;0.0207)		66			Collagen-like.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Nonsense_Mutation	SNP	ENST00000231338.7	37	c.196G>T	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	44	11.066602	0.99511	.	.	ENSG00000082196	ENST00000382065;ENST00000231338	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	139;66	.	.	G	-	1	0	C1QTNF3	34071509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.256000	0.65468	2.802000	0.96397	0.655000	0.94253	GGA		0.522	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945	Nonsense_Mutation	35	28	1	0	8.73648e-17	0.004289	1.54548e-16	35	28				
SPEF2	79925	broad.mit.edu	37	5	35753794	35753794	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:35753794C>A	ENST00000356031.3	+	24	3553	c.3399C>A	c.(3397-3399)gaC>gaA	p.D1133E	SPEF2_ENST00000440995.2_Missense_Mutation_p.D1128E|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1133					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCGGCTTGACATCATTAATG	0.507																																							uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3397-3399)GAC>GAA		KPL2 protein isoform 1							123.0	128.0	127.0					5																	35753794		1943	4147	6090	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35753794C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3399C>A	5.37:g.35753794C>A	ENSP00000348314:p.Asp1133Glu					SPEF2_uc003jjp.1_Missense_Mutation_p.D619E	p.D1133E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		24	3510	+	all_lung(31;7.56e-05)		1133					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3399C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499049	0.44455	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.26810	1.71;1.71	5.35	-3.64	0.04515	.	0.171940	0.50627	D	0.000110	T	0.18299	0.0439	L	0.55990	1.75	0.80722	D	1	B;B	0.32829	0.215;0.386	B;B	0.31869	0.137;0.052	T	0.01894	-1.1252	10	0.40728	T	0.16	.	7.5904	0.28017	0.1239:0.4912:0.0:0.385	.	1128;1133	Q9C093-2;Q9C093	.;SPEF2_HUMAN	E	1133;1128	ENSP00000348314:D1133E;ENSP00000412125:D1128E	ENSP00000348314:D1133E	D	+	3	2	SPEF2	35789551	0.996000	0.38824	0.797000	0.32132	0.104000	0.19210	0.183000	0.16919	-0.811000	0.04369	-0.339000	0.08088	GAC		0.507	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		34	214	1	0	4.4194e-11	0.002836	6.92441e-11	34	214				
UGT3A1	133688	broad.mit.edu	37	5	35957310	35957310	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:35957310A>C	ENST00000274278.3	-	5	1412	c.1055T>G	c.(1054-1056)cTt>cGt	p.L352R	UGT3A1_ENST00000503189.1_Missense_Mutation_p.L352R|UGT3A1_ENST00000507113.1_Missense_Mutation_p.L318R|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	352						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTCTGAGGAAGCCAGTCCAC	0.512																																							uc003jjv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1054-1056)CTT>CGT		UDP glycosyltransferase 3 family, polypeptide A1							103.0	89.0	94.0					5																	35957310		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957310A>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1055T>G	5.37:g.35957310A>C	ENSP00000274278:p.Leu352Arg					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L352R|UGT3A1_uc011cor.1_Missense_Mutation_p.L318R	p.L352R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1212	-	all_lung(31;0.000197)		352			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1055T>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.521635	0.44866	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.64991	-0.13;-0.13;-0.13	3.01	3.01	0.34805	.	0.095774	0.41712	D	0.000828	T	0.82033	0.4949	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.85345	0.1098	10	0.87932	D	0	.	10.8122	0.46553	1.0:0.0:0.0:0.0	.	318;352;352	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	R	352;352;318	ENSP00000274278:L352R;ENSP00000427079:L352R;ENSP00000426100:L318R	ENSP00000274278:L352R	L	-	2	0	UGT3A1	35993067	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	6.792000	0.75125	1.321000	0.45227	0.383000	0.25322	CTT		0.512	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		4	65	0	0	0	0.000602	0	4	65				
NIPBL	25836	broad.mit.edu	37	5	36962328	36962328	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:36962328C>T	ENST00000282516.8	+	6	1061	c.562C>T	c.(562-564)Cca>Tca	p.P188S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P188S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	188					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGATACATGCCATATTCCCA	0.453																																							uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(562-564)CCA>TCA		delangin isoform A							276.0	249.0	258.0					5																	36962328		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36962328C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.562C>T	5.37:g.36962328C>T	ENSP00000282516:p.Pro188Ser					NIPBL_uc003jkk.3_Missense_Mutation_p.P188S|NIPBL_uc003jkm.1_Missense_Mutation_p.P67S	p.P188S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		6	1061	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		188					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.562C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443141	0.83993	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93133	-3.16;-3.17	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91932	0.7445	L	0.44542	1.39	0.52501	D	0.999953	P;P	0.46784	0.816;0.884	B;B	0.43658	0.156;0.426	D	0.91555	0.5260	10	0.44086	T	0.13	.	19.4838	0.95020	0.0:1.0:0.0:0.0	.	188;188	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	188	ENSP00000282516:P188S;ENSP00000406266:P188S	ENSP00000282516:P188S	P	+	1	0	NIPBL	36998085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.731000	0.55013	2.695000	0.91970	0.655000	0.94253	CCA		0.453	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		40	283	0	0	0	0.009718	0	40	283				
NIPBL	25836	broad.mit.edu	37	5	37006617	37006617	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:37006617G>C	ENST00000282516.8	+	17	4513	c.4014G>C	c.(4012-4014)caG>caC	p.Q1338H	NIPBL_ENST00000448238.2_Missense_Mutation_p.Q1338H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1338					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAGTTATACAGTACACTAAAT	0.338																																							uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(4012-4014)CAG>CAC		delangin isoform A							93.0	90.0	91.0					5																	37006617		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37006617G>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4014G>C	5.37:g.37006617G>C	ENSP00000282516:p.Gln1338His					NIPBL_uc003jkk.3_Missense_Mutation_p.Q1338H	p.Q1338H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		17	4513	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1338					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.4014G>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267563	0.59540	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.61040	0.14;0.14	5.41	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.65498	2.005	0.47476	D	0.999437	D;D	0.67145	0.994;0.996	P;D	0.72075	0.897;0.976	T	0.71038	-0.4708	10	0.51188	T	0.08	.	10.4101	0.44287	0.2123:0.0:0.7877:0.0	.	1338;1338	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1338	ENSP00000282516:Q1338H;ENSP00000406266:Q1338H	ENSP00000282516:Q1338H	Q	+	3	2	NIPBL	37042374	0.927000	0.31430	1.000000	0.80357	0.994000	0.84299	-0.035000	0.12205	1.289000	0.44618	0.555000	0.69702	CAG		0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		3	36	0	0	0	0.004672	0	3	36				
OSMR	9180	broad.mit.edu	37	5	38933124	38933124	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:38933124C>G	ENST00000274276.3	+	18	2920	c.2518C>G	c.(2518-2520)Ctc>Gtc	p.L840V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	840					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTACCTTTATCTCCTTCCAAC	0.468																																							uc003jln.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2518-2520)CTC>GTC		oncostatin M receptor precursor							150.0	147.0	148.0					5																	38933124		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933124C>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2518C>G	5.37:g.38933124C>G	ENSP00000274276:p.Leu840Val					OSMR_uc011cpj.1_Missense_Mutation_p.L44V	p.L840V	NM_003999	NP_003990	Q99650	OSMR_HUMAN			18	2885	+	all_lung(31;0.000365)		840			Cytoplasmic (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2518C>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783109	0.16189	.	.	ENSG00000145623	ENST00000274276	T	0.43688	0.94	4.88	1.93	0.25924	.	1.371480	0.04519	N	0.384269	T	0.33177	0.0854	L	0.56769	1.78	0.09310	N	1	P	0.48834	0.916	B	0.39094	0.29	T	0.18650	-1.0330	10	0.09590	T	0.72	.	3.1337	0.06431	0.3175:0.4406:0.1543:0.0876	.	840	Q99650	OSMR_HUMAN	V	840	ENSP00000274276:L840V	ENSP00000274276:L840V	L	+	1	0	OSMR	38968881	0.000000	0.05858	0.002000	0.10522	0.466000	0.32739	-0.040000	0.12104	0.059000	0.16252	0.655000	0.94253	CTC		0.468	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		115	116	0	0	0	0.00361	0	115	116				
DAB2	1601	broad.mit.edu	37	5	39376927	39376927	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:39376927C>A	ENST00000320816.6	-	12	2429	c.1962G>T	c.(1960-1962)atG>atT	p.M654I	DAB2_ENST00000339788.6_Missense_Mutation_p.M436I|DAB2_ENST00000509337.1_Missense_Mutation_p.M633I|DAB2_ENST00000545653.1_Missense_Mutation_p.M633I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	654	Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AATCCTTAAACATTTCTTTCA	0.527											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(1960-1962)ATG>ATT		disabled homolog 2							52.0	53.0	52.0					5																	39376927		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39376927C>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1962G>T	5.37:g.39376927C>A	ENSP00000313391:p.Met654Ile		OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_uc003jlw.2_Missense_Mutation_p.M633I	p.M654I	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2493	-	all_lung(31;0.000197)		654			Required for interaction with MYO6 (By similarity).		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1962G>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642501	0.87859	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.75777	2.31	0.52099	D	0.999946	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	T	0.74216	-0.3737	10	0.72032	D	0.01	-10.8223	18.5286	0.90983	0.0:1.0:0.0:0.0	.	654;633	P98082;P98082-3	DAB2_HUMAN;.	I	654;436;633;633	ENSP00000313391:M654I;ENSP00000345508:M436I;ENSP00000439919:M633I;ENSP00000426245:M633I	ENSP00000313391:M654I	M	-	3	0	DAB2	39412684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.619000	0.67729	2.366000	0.80165	0.655000	0.94253	ATG		0.527	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		13	81	1	0	4.36969e-10	0.001855	6.60896e-10	13	81				
PLCXD3	345557	broad.mit.edu	37	5	41381964	41381964	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:41381964C>T	ENST00000377801.3	-	2	850	c.776G>A	c.(775-777)gGg>gAg	p.G259E	PLCXD3_ENST00000328457.3_Missense_Mutation_p.G259E			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	259					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTTGCCACCCCTTTGACCAC	0.418																																							uc003jmm.1		NA																	0				skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(775-777)GGG>GAG		phosphatidylinositol-specific phospholipase C, X							81.0	86.0	85.0					5																	41381964		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41381964C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.776G>A	5.37:g.41381964C>T	ENSP00000367032:p.Gly259Glu						p.G259E	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	878	-			259					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.776G>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514731	0.85389	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72050	-0.4407	9	0.37606	T	0.19	-10.3496	20.6593	0.99626	0.0:1.0:0.0:0.0	.	259	Q63HM9	PLCX3_HUMAN	E	259	.	ENSP00000333751:G259E	G	-	2	0	PLCXD3	41417721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.697000	0.68295	2.885000	0.99019	0.655000	0.94253	GGG		0.418	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		13	122	0	0	0	0.001368	0	13	122				
PAIP1	10605	broad.mit.edu	37	5	43548014	43548014	+	Splice_Site	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:43548014T>G	ENST00000306846.3	-	3	669	c.437A>C	c.(436-438)gAa>gCa	p.E146A	PAIP1_ENST00000436644.2_Splice_Site_p.E67A|PAIP1_ENST00000338972.4_Splice_Site_p.E34A|PAIP1_ENST00000514514.1_Splice_Site_p.E67A	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	146					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTCATAGGATTCCTACGGATC	0.363																																							uc003job.2		NA																	0				ovary(1)	1						c.(436-438)GAA>GCA		poly(A) binding protein interacting protein 1							52.0	51.0	51.0					5																	43548014		2203	4300	6503	SO:0001630	splice_region_variant	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43548014T>G	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.436-1A>C	5.37:g.43548014T>G						PAIP1_uc003joa.2_Missense_Mutation_p.E67A|PAIP1_uc010ivp.2_Missense_Mutation_p.E67A|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E34A	p.E146A	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			3	684	-	Lung NSC(6;2.07e-05)		146					A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.437A>C	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030379	0.35797	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	T;T;T;T;T;T	0.34072	1.38;1.42;1.42;1.42;1.49;1.45	5.05	3.85	0.44370	.	0.628289	0.16541	N	0.209938	T	0.22044	0.0531	N	0.14661	0.345	0.30695	N	0.750876	B;B;B	0.25105	0.039;0.118;0.027	B;B;B	0.23852	0.015;0.049;0.035	T	0.12477	-1.0546	10	0.39692	T	0.17	-3.6894	10.9605	0.47383	0.0:0.0:0.2068:0.7932	.	67;146;67	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	A	146;67;34;67;34;34;34	ENSP00000302768:E146A;ENSP00000387729:E67A;ENSP00000339622:E34A;ENSP00000425084:E67A;ENSP00000425675:E34A;ENSP00000425736:E34A	ENSP00000302768:E146A	E	-	2	0	PAIP1	43583771	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	5.918000	0.69996	2.032000	0.59987	0.533000	0.62120	GAA		0.363	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	Missense_Mutation	6	33	0	0	0	0.001168	0	6	33				
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:45262699G>C	ENST00000303230.4	-	8	2054	c.1997C>G	c.(1996-1998)cCg>cGg	p.P666R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577																																							uc003jok.2		NA																	0				ovary(1)	1						c.(1996-1998)CCG>CGG		hyperpolarization activated cyclic							153.0	149.0	150.0					5																	45262699		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262699G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1997C>G	5.37:g.45262699G>C	ENSP00000307342:p.Pro666Arg						p.P666R	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2022	-			666			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1997C>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119595	0.37436	.	.	ENSG00000164588	ENST00000303230	D	0.97352	-4.35	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000009	D	0.97031	0.9030	L	0.44542	1.39	0.47374	D	0.999405	D	0.63046	0.992	P	0.56788	0.806	D	0.96667	0.9493	10	0.40728	T	0.16	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	666	O60741	HCN1_HUMAN	R	666	ENSP00000307342:P666R	ENSP00000307342:P666R	P	-	2	0	HCN1	45298456	0.632000	0.27172	0.938000	0.37757	0.722000	0.41435	2.974000	0.49272	2.528000	0.85240	0.563000	0.77884	CCG		0.577	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	91	0	0	0	0.006214	0	9	91				
GPBP1	65056	broad.mit.edu	37	5	56542933	56542933	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:56542933A>G	ENST00000506184.2	+	8	1800	c.695A>G	c.(694-696)aAt>aGt	p.N232S	GPBP1_ENST00000538707.1_Missense_Mutation_p.N239S|GPBP1_ENST00000511209.1_Missense_Mutation_p.N239S|GPBP1_ENST00000264779.6_Missense_Mutation_p.N239S|GPBP1_ENST00000424459.3_Missense_Mutation_p.N252S|GPBP1_ENST00000454432.2_Missense_Mutation_p.N252S|GPBP1_ENST00000514387.2_Missense_Mutation_p.N61S			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	232					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ACAAAAGAAAATAAAGTTGGA	0.348																																							uc003jrh.3		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(694-696)AAT>AGT		GC-rich promoter binding protein 1 isoform 1							74.0	72.0	73.0					5																	56542933		2202	4300	6502	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56542933A>G		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.695A>G	5.37:g.56542933A>G	ENSP00000421202:p.Asn232Ser					GPBP1_uc010iwg.2_Missense_Mutation_p.N252S|GPBP1_uc003jri.3_Missense_Mutation_p.N61S|GPBP1_uc003jrj.3_Missense_Mutation_p.N239S|GPBP1_uc003jrk.3_Missense_Mutation_p.N239S|GPBP1_uc003jrl.3_RNA	p.N232S	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	8	1969	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	232					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.695A>G	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607138	0.28623	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.44482	1.93;0.92;1.92;1.93;1.94;1.94;1.94	5.08	3.91	0.45181	.	0.063366	0.64402	D	0.000006	T	0.49064	0.1535	L	0.43152	1.355	0.34795	D	0.736111	D;P;B;P	0.76494	0.999;0.607;0.376;0.607	D;B;B;B	0.77557	0.99;0.419;0.248;0.419	T	0.53851	-0.8380	10	0.11794	T	0.64	-19.1923	9.3882	0.38356	0.9186:0.0:0.0814:0.0	.	252;239;239;232	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	S	252;61;232;252;239;239;239	ENSP00000401596:N252S;ENSP00000421709:N61S;ENSP00000421202:N232S;ENSP00000403522:N252S;ENSP00000422337:N239S;ENSP00000264779:N239S;ENSP00000440090:N239S	ENSP00000264779:N239S	N	+	2	0	GPBP1	56578690	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.736000	0.68597	0.790000	0.33803	-0.256000	0.11100	AAT		0.348	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		9	30	0	0	0	0.001368	0	9	30				
BDP1	55814	broad.mit.edu	37	5	70785389	70785389	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:70785389G>T	ENST00000358731.4	+	10	1635	c.1372G>T	c.(1372-1374)Gac>Tac	p.D458Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	458	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTAGAAGTAGACCTAAATCA	0.428																																							uc003kbp.1		NA																	0				skin(2)	2						c.(1372-1374)GAC>TAC		transcription factor-like nuclear regulator							65.0	62.0	63.0					5																	70785389		1895	4110	6005	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70785389G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1372G>T	5.37:g.70785389G>T	ENSP00000351575:p.Asp458Tyr					BDP1_uc003kbn.1_Missense_Mutation_p.D458Y|BDP1_uc003kbo.2_Missense_Mutation_p.D458Y	p.D458Y	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	10	1635	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	458			Required for phosphorylation by CSNK2A1.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1372G>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477830	0.26511	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.49139	0.79	4.68	3.81	0.43845	.	0.646181	0.14802	N	0.297568	T	0.57946	0.2088	L	0.47716	1.5	0.33688	D	0.612921	D;D;D	0.76494	0.994;0.999;0.989	D;D;P	0.69479	0.954;0.964;0.769	T	0.65874	-0.6062	10	0.52906	T	0.07	.	9.4643	0.38802	0.1014:0.0:0.8986:0.0	.	458;458;458	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Y	458;458;38;458	ENSP00000351575:D458Y	ENSP00000351575:D458Y	D	+	1	0	BDP1	70821145	0.256000	0.24012	0.098000	0.21074	0.249000	0.25844	1.432000	0.34936	1.293000	0.44690	0.462000	0.41574	GAC		0.428	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		11	17	1	0	1.08611e-07	0.010729	1.49384e-07	11	17				
UTP15	84135	broad.mit.edu	37	5	72875896	72875896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:72875896G>T	ENST00000296792.4	+	13	1789	c.1534G>T	c.(1534-1536)Gag>Tag	p.E512*	UTP15_ENST00000508491.1_Nonsense_Mutation_p.E493*|UTP15_ENST00000543251.1_Nonsense_Mutation_p.E322*	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	512					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TGGATTTCCAGAGAATAAGAA	0.383																																							uc003kcw.1		NA																	0					0						c.(1534-1536)GAG>TAG		UTP15, U3 small nucleolar ribonucleoprotein,							97.0	95.0	95.0					5																	72875896		2203	4300	6503	SO:0001587	stop_gained	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72875896G>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1534G>T	5.37:g.72875896G>T	ENSP00000296792:p.Glu512*					UTP15_uc011cso.1_Nonsense_Mutation_p.E493*|UTP15_uc011csp.1_Nonsense_Mutation_p.E322*|UTP15_uc010ize.1_Nonsense_Mutation_p.E512*	p.E512*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	13	1757	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	512					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Nonsense_Mutation	SNP	ENST00000296792.4	37	c.1534G>T	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.720711|8.720711	0.98929|0.98929	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000296792;ENST00000543251;ENST00000508491|ENST00000509005	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.639235|.	0.17286|.	N|.	0.179817|.	.|T	.|0.65995	.|0.2745	.|.	.|.	.|.	0.37284|0.37284	D|D	0.90795|0.90795	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67225	.|-0.5724	.|4	0.18276|.	T|.	0.48|.	.|.	14.0563|14.0563	0.64772|0.64772	0.0712:0.0:0.9288:0.0|0.0712:0.0:0.9288:0.0	.|.	.|.	.|.	.|.	X|H	512;322;493|538	.|.	ENSP00000296792:E512X|.	E|Q	+|+	1|3	0|2	UTP15|UTP15	72911652|72911652	0.997000|0.997000	0.39634|0.39634	0.543000|0.543000	0.28128|0.28128	0.929000|0.929000	0.56500|0.56500	2.948000|2.948000	0.49066|0.49066	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAG|CAG		0.383	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		4	45	1	0	3.59834e-05	0.001168	4.39136e-05	4	45				
SERINC5	256987	broad.mit.edu	37	5	79498704	79498704	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:79498704C>A	ENST00000507668.2	-	2	346		c.e2+1		SERINC5_ENST00000509193.1_Splice_Site|SERINC5_ENST00000512972.2_Splice_Site|SERINC5_ENST00000512721.1_Splice_Site|SERINC5_ENST00000513907.1_Splice_Site	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5						myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)	p.?(2)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GACAAACTTACGTGCTCTTTC	0.493																																							uc003kgj.2		NA																	2	Unknown(2)		endometrium(2)	ovary(1)	1						c.e2+1		developmentally regulated protein TPO1							77.0	76.0	76.0					5																	79498704		2089	4219	6308	SO:0001630	splice_region_variant	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79498704C>A	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.195+1G>T	5.37:g.79498704C>A						SERINC5_uc003kgk.2_Splice_Site_p.H65_splice|SERINC5_uc003kgl.2_Splice_Site|SERINC5_uc003kgm.2_Splice_Site_p.H65_splice|SERINC5_uc011ctj.1_Splice_Site_p.H65_splice	p.H65_splice	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	2	324	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)						B4DMH7|Q495A4|Q495A6	Splice_Site	SNP	ENST00000507668.2	37	c.195_splice	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867138	0.91511	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6254	0.95676	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERINC5	79534460	1.000000	0.71417	0.981000	0.43875	0.885000	0.51271	7.371000	0.79600	2.642000	0.89623	0.650000	0.86243	.		0.493	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276	Intron	4	12	1	0	0.00909568	0.009096	0.00964006	4	12				
VCAN	1462	broad.mit.edu	37	5	82841407	82841407	+	Missense_Mutation	SNP	C	C	A	rs372560857		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:82841407C>A	ENST00000265077.3	+	9	9882	c.9317C>A	c.(9316-9318)cCt>cAt	p.P3106H	VCAN_ENST00000343200.5_Missense_Mutation_p.P2119H|VCAN_ENST00000502527.2_Missense_Mutation_p.P365H|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.P1352H|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.P1304H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3106	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACCTGTTATCCTACTGAAACT	0.468																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9316-9318)CCT>CAT		versican isoform 1 precursor							226.0	214.0	218.0					5																	82841407		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82841407C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9317C>A	5.37:g.82841407C>A	ENSP00000265077:p.Pro3106His					VCAN_uc003kij.3_Missense_Mutation_p.P2119H|VCAN_uc010jau.2_Missense_Mutation_p.P1352H|VCAN_uc003kik.3_Missense_Mutation_p.P365H|VCAN_uc003kil.3_Missense_Mutation_p.P1770H	p.P3106H	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	9	9673	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3106			EGF-like 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9317C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346382	0.61073	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.98400	-2.89;-2.89;-4.91;-4.91;-4.91	5.83	4.91	0.64330	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.492618	0.19250	N	0.118947	D	0.98451	0.9484	M	0.63208	1.945	0.09310	N	1	D;P;D;D	0.76494	0.996;0.834;0.987;0.999	P;B;P;D	0.65323	0.855;0.413;0.854;0.934	D	0.94867	0.8027	10	0.72032	D	0.01	.	15.7374	0.77856	0.1371:0.8629:0.0:0.0	.	1352;365;2119;3106	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	H	3106;2119;1352;1304;365	ENSP00000265077:P3106H;ENSP00000340062:P2119H;ENSP00000342768:P1352H;ENSP00000425959:P1304H;ENSP00000421362:P365H	ENSP00000265077:P3106H	P	+	2	0	VCAN	82877163	0.159000	0.22864	0.884000	0.34674	0.915000	0.54546	4.101000	0.57769	2.769000	0.95229	0.655000	0.94253	CCT		0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		32	91	1	0	1.80694e-10	0.009535	2.7774e-10	32	91				
VCAN	1462	broad.mit.edu	37	5	82841424	82841424	+	Missense_Mutation	SNP	G	G	T	rs369039737		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:82841424G>T	ENST00000265077.3	+	9	9899	c.9334G>T	c.(9334-9336)Gta>Tta	p.V3112L	VCAN_ENST00000343200.5_Missense_Mutation_p.V2125L|VCAN_ENST00000502527.2_Missense_Mutation_p.V371L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.V1358L|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.V1310L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3112	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACTTCCTACGTATGCACCTG	0.463																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9334-9336)GTA>TTA		versican isoform 1 precursor							206.0	195.0	199.0					5																	82841424		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82841424G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9334G>T	5.37:g.82841424G>T	ENSP00000265077:p.Val3112Leu					VCAN_uc003kij.3_Missense_Mutation_p.V2125L|VCAN_uc010jau.2_Missense_Mutation_p.V1358L|VCAN_uc003kik.3_Missense_Mutation_p.V371L|VCAN_uc003kil.3_Missense_Mutation_p.V1776L	p.V3112L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	9	9690	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3112			EGF-like 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9334G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680524	0.47886	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.83	5.83	0.93111	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.52532	D	0.000068	D	0.84202	0.5420	N	0.10916	0.065	0.27684	N	0.94636	D;P;P;D	0.69078	0.99;0.783;0.583;0.997	P;B;B;P	0.62435	0.842;0.242;0.446;0.902	T	0.77696	-0.2491	10	0.41790	T	0.15	.	11.0837	0.48074	0.1107:0.0:0.8893:0.0	.	1358;371;2125;3112	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	L	3112;2125;1358;1310;371	ENSP00000265077:V3112L;ENSP00000340062:V2125L;ENSP00000342768:V1358L;ENSP00000425959:V1310L;ENSP00000421362:V371L	ENSP00000265077:V3112L	V	+	1	0	VCAN	82877180	0.989000	0.36119	0.471000	0.27229	0.488000	0.33401	2.401000	0.44513	2.769000	0.95229	0.655000	0.94253	GTA		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		33	77	1	0	6.70999e-13	0.004289	1.10533e-12	33	77				
HAPLN1	1404	broad.mit.edu	37	5	82937337	82937337	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:82937337T>A	ENST00000274341.4	-	5	1893	c.1043A>T	c.(1042-1044)tAc>tTc	p.Y348F		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	348	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TCTGAAGCAGTAGACACCATA	0.448																																							uc003kim.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(1042-1044)TAC>TTC		hyaluronan and proteoglycan link protein 1							152.0	163.0	159.0					5																	82937337		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937337T>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1043A>T	5.37:g.82937337T>A	ENSP00000274341:p.Tyr348Phe					HAPLN1_uc003kin.2_Missense_Mutation_p.Y348F	p.Y348F	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1114	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	348			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.1043A>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677728	0.68042	.	.	ENSG00000145681	ENST00000274341	T	0.35789	1.29	5.04	5.04	0.67666	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.49350	1.555	0.80722	D	1	D	0.59357	0.985	D	0.63381	0.914	T	0.51196	-0.8736	10	0.49607	T	0.09	.	15.1062	0.72324	0.0:0.0:0.0:1.0	.	348	P10915	HPLN1_HUMAN	F	348	ENSP00000274341:Y348F	ENSP00000274341:Y348F	Y	-	2	0	HAPLN1	82973093	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.117000	0.64667	2.003000	0.58678	0.533000	0.62120	TAC		0.448	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		24	109	0	0	0	0.005443	0	24	109				
EDIL3	10085	broad.mit.edu	37	5	83549934	83549934	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:83549934G>T	ENST00000296591.5	-	2	582	c.164C>A	c.(163-165)aCa>aAa	p.T55K	EDIL3_ENST00000380138.3_Missense_Mutation_p.T55K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	55	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTTGGGGTCTGTGAAGCCATC	0.403																																							uc003kio.1		NA																	0				skin(2)	2						c.(163-165)ACA>AAA		EGF-like repeats and discoidin I-like							88.0	80.0	83.0					5																	83549934		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83549934G>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.164C>A	5.37:g.83549934G>T	ENSP00000296591:p.Thr55Lys					EDIL3_uc003kip.1_Missense_Mutation_p.T55K	p.T55K	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	2	583	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	55			EGF-like 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.164C>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073417	0.55646	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.93133	-3.17;-3.17	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.137872	0.33650	N	0.004688	D	0.94447	0.8213	L	0.53249	1.67	0.28468	N	0.91558	B;P	0.37688	0.288;0.605	B;P	0.51550	0.118;0.673	D	0.91386	0.5131	10	0.72032	D	0.01	-13.1666	14.2443	0.65978	0.0:0.149:0.851:0.0	.	55;55	O43854-2;O43854	.;EDIL3_HUMAN	K	55	ENSP00000296591:T55K;ENSP00000369483:T55K	ENSP00000296591:T55K	T	-	2	0	EDIL3	83585690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.412000	0.59787	2.642000	0.89623	0.650000	0.86243	ACA		0.403	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		3	20	1	0	0.00024832	0.009096	0.000286393	3	20				
GPR98	84059	broad.mit.edu	37	5	89933730	89933731	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:89933730_89933731GG>TT	ENST00000405460.2	+	11	2301_2302	c.2205_2206GG>TT	c.(2203-2208)ccGGaa>ccTTaa	p.E736*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	736	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGACATACCGGAAATGAATGA	0.351																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(2203-2208)CCGGAA>CCTTAA		G protein-coupled receptor 98 precursor																																				SO:0001587	stop_gained	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89933730_89933731GG>TT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	Exception_encountered	5.37:g.89933730_89933731delinsTT	ENSP00000384582:p.Glu736*					GPR98_uc003kjt.2_5'UTR	p.E736*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	11	2301_2302	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	736			Calx-beta 5.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	DNP	ENST00000405460.2	37	c.2205_2206GG>TT	CCDS47246.1																																																																																				0.351	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	30	0	0	0	0.004672	0	8	30				
MCTP1	79772	broad.mit.edu	37	5	94353173	94353173	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:94353173C>G	ENST00000515393.1	-	2	735	c.736G>C	c.(736-738)Gct>Cct	p.A246P	MCTP1_ENST00000429576.2_Missense_Mutation_p.A25P|MCTP1_ENST00000312216.8_Missense_Mutation_p.A25P|MCTP1_ENST00000505208.1_Missense_Mutation_p.A25P	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	246					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTGGTTCCAGCAGTGTTTATT	0.383																																							uc003kkx.2		NA																	0				ovary(2)	2						c.(736-738)GCT>CCT		multiple C2 domains, transmembrane 1 isoform L							91.0	85.0	87.0					5																	94353173		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94353173C>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.736G>C	5.37:g.94353173C>G	ENSP00000424126:p.Ala246Pro					MCTP1_uc003kkv.2_Missense_Mutation_p.A25P|MCTP1_uc003kkw.2_Missense_Mutation_p.A25P|MCTP1_uc003kkz.2_Intron	p.A246P	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	2	736	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	246					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.736G>C	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.363|9.363	1.068632|1.068632	0.20067|0.20067	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000507214;ENST00000514780;ENST00000510732;ENST00000505465|ENST00000503301	T;T;T;T;T;T;T;T;T|.	0.81415|.	-1.14;-0.87;-1.04;-0.87;-1.15;-1.04;-1.19;-1.49;0.88|.	5.86|5.86	1.49|1.49	0.22878|0.22878	.|.	0.890365|.	0.09629|.	N|.	0.776494|.	T|T	0.16599|0.16599	0.0399|0.0399	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999994|0.999994	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.0|.	T|T	0.27606|0.27606	-1.0069|-1.0069	10|5	0.56958|.	D|.	0.05|.	0.1104|0.1104	6.1468|6.1468	0.20291|0.20291	0.148:0.6059:0.0:0.2461|0.148:0.6059:0.0:0.2461	.|.	246;25;25|.	Q6DN14;Q6DN14-3;Q6DN14-2|.	MCTP1_HUMAN;.;.|.	P|S	246;25;25;25;25;7;6;40;25|54	ENSP00000424126:A246P;ENSP00000391639:A25P;ENSP00000308957:A25P;ENSP00000423410:A25P;ENSP00000426438:A25P;ENSP00000424936:A7P;ENSP00000421543:A6P;ENSP00000422219:A40P;ENSP00000422317:A25P|.	ENSP00000308957:A25P|.	A|C	-|-	1|2	0|0	MCTP1|MCTP1	94378929|94378929	0.905000|0.905000	0.30787|0.30787	0.588000|0.588000	0.28705|0.28705	0.163000|0.163000	0.22366|0.22366	-0.092000|-0.092000	0.11129|0.11129	0.354000|0.354000	0.24105|0.24105	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.383	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		15	22	0	0	0	0.00245	0	15	22				
ST8SIA4	7903	broad.mit.edu	37	5	100147663	100147663	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:100147663C>A	ENST00000231461.5	-	5	1278	c.968G>T	c.(967-969)aGg>aTg	p.R323M		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	323					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GGAAAAGTACCTATATTTTAA	0.353																																							uc003knk.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(967-969)AGG>ATG		ST8 alpha-N-acetyl-neuraminide							111.0	101.0	104.0					5																	100147663		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100147663C>A	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.968G>T	5.37:g.100147663C>A	ENSP00000231461:p.Arg323Met						p.R323M	NM_005668	NP_005659	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	5	1296	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	323			Lumenal (Potential).		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.968G>T	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459958	0.63401	.	.	ENSG00000113532	ENST00000231461	T	0.33438	1.41	5.77	5.77	0.91146	.	0.057166	0.64402	D	0.000003	T	0.37376	0.1001	M	0.69358	2.11	0.80722	D	1	P	0.46142	0.873	P	0.44623	0.455	T	0.16600	-1.0397	10	0.51188	T	0.08	-0.6428	12.3084	0.54915	0.0:0.9232:0.0:0.0768	.	323	Q92187	SIA8D_HUMAN	M	323	ENSP00000231461:R323M	ENSP00000231461:R323M	R	-	2	0	ST8SIA4	100175562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.937000	0.56575	2.722000	0.93159	0.655000	0.94253	AGG		0.353	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		6	10	1	0	2.0095e-06	0.001984	2.62175e-06	6	10				
SRFBP1	153443	broad.mit.edu	37	5	121356024	121356024	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:121356024G>T	ENST00000339397.4	+	6	666	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		CTAAAGCAGTGACTATTGCAA	0.383																																							uc003kst.1		NA																	0					0						c.(592-594)GTG>GTT		serum response factor binding protein 1							107.0	97.0	100.0					5																	121356024		1863	4083	5946	SO:0001819	synonymous_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356024G>T	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.594G>T	5.37:g.121356024G>T							p.V198V	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	666	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	198						Silent	SNP	ENST00000339397.4	37	c.594G>T	CCDS43354.1																																																																																				0.383	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		4	24	1	0	0.00024832	0.009096	0.000286393	4	24				
CEP120	153241	broad.mit.edu	37	5	122717864	122717864	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:122717864C>A	ENST00000306467.5	-	14	2348	c.2044G>T	c.(2044-2046)Gct>Tct	p.A682S	CEP120_ENST00000328236.5_Missense_Mutation_p.A682S|CEP120_ENST00000306481.6_Missense_Mutation_p.A656S			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	682					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTGCAAGAGCCTGCATATGA	0.368																																							uc003ktk.2		NA																	0				ovary(1)	1						c.(2044-2046)GCT>TCT		coiled-coil domain containing 100							121.0	119.0	120.0					5																	122717864		2203	4299	6502	SO:0001583	missense	153241					centrosome		g.chr5:122717864C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2044G>T	5.37:g.122717864C>A	ENSP00000303058:p.Ala682Ser					CEP120_uc011cwq.1_Missense_Mutation_p.A491S|CEP120_uc010jcz.1_Missense_Mutation_p.A656S	p.A682S	NM_153223	NP_694955	Q8N960	CE120_HUMAN			15	2126	-			682			Potential.		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2044G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473813	0.63737	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	M	0.73962	2.25	0.80722	D	1	P	0.35411	0.5	B	0.28465	0.09	T	0.34104	-0.9842	10	0.10902	T	0.67	-9.6298	12.913	0.58190	0.0:0.92:0.0:0.08	.	682	Q8N960	CE120_HUMAN	S	682;682;656;656	ENSP00000303058:A682S;ENSP00000327504:A682S;ENSP00000307419:A656S;ENSP00000421620:A656S	ENSP00000303058:A682S	A	-	1	0	CEP120	122745763	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.428000	0.66489	2.535000	0.85469	0.585000	0.79938	GCT		0.368	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		13	24	1	0	8.60227e-14	0.004007	1.44648e-13	13	24				
MEGF10	84466	broad.mit.edu	37	5	126771134	126771134	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:126771134G>T	ENST00000274473.6	+	17	2324	c.2057G>T	c.(2056-2058)aGa>aTa	p.R686I	MEGF10_ENST00000503335.2_Missense_Mutation_p.R686I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	686	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCCATTGACAGATCTTGTCAG	0.423																																							uc003kuh.3		NA																	0				ovary(4)	4						c.(2056-2058)AGA>ATA		multiple EGF-like-domains 10 precursor							121.0	99.0	106.0					5																	126771134		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771134G>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2057G>T	5.37:g.126771134G>T	ENSP00000274473:p.Arg686Ile					MEGF10_uc003kui.3_Missense_Mutation_p.R686I	p.R686I	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2419	+		Prostate(80;0.165)	686			Extracellular (Potential).|EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2057G>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754884	0.89843	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.34275	1.37;1.37	6.04	6.04	0.98038	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.066878	0.64402	D	0.000015	T	0.30665	0.0772	L	0.27053	0.805	0.80722	D	1	P	0.36990	0.577	B	0.33392	0.163	T	0.07443	-1.0772	10	0.59425	D	0.04	-21.0613	20.5948	0.99439	0.0:0.0:1.0:0.0	.	686	Q96KG7	MEG10_HUMAN	I	686	ENSP00000423354:R686I;ENSP00000274473:R686I	ENSP00000274473:R686I	R	+	2	0	MEGF10	126799033	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.776000	0.99001	2.873000	0.98535	0.563000	0.77884	AGA		0.423	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		9	10	1	0	1.12685e-05	0.004482	1.40753e-05	9	10				
FBN2	2201	broad.mit.edu	37	5	127637170	127637170	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:127637170C>G	ENST00000508053.1	-	53	6924	c.5950G>C	c.(5950-5952)Gtg>Ctg	p.V1984L	FBN2_ENST00000262464.4_Missense_Mutation_p.V1984L			P35556	FBN2_HUMAN	fibrillin 2	1984	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTCTGCACACCTGACCAAAA	0.368																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5950-5952)GTG>CTG		fibrillin 2 precursor							141.0	140.0	140.0					5																	127637170		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127637170C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5950G>C	5.37:g.127637170C>G	ENSP00000424571:p.Val1984Leu						p.V1984L	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	47	6389	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1984			EGF-like 33; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5950G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708673	0.30322	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92348	-3.02;-3.02	5.53	4.65	0.58169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000031	T	0.75561	0.3866	N	0.01081	-1.03	0.44927	D	0.99794	B	0.18863	0.031	B	0.22152	0.038	T	0.73867	-0.3847	10	0.05436	T	0.98	.	14.9671	0.71201	0.0:0.9305:0.0:0.0695	.	1984	P35556	FBN2_HUMAN	L	1984	ENSP00000262464:V1984L;ENSP00000424571:V1984L	ENSP00000262464:V1984L	V	-	1	0	FBN2	127665069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.308000	0.59129	2.879000	0.98667	0.650000	0.86243	GTG		0.368	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		17	18	0	0	0	0.010504	0	17	18				
FBN2	2201	broad.mit.edu	37	5	127685063	127685063	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:127685063C>A	ENST00000508053.1	-	29	3939	c.2965G>T	c.(2965-2967)Gat>Tat	p.D989Y	FBN2_ENST00000508989.1_Missense_Mutation_p.D956Y|FBN2_ENST00000262464.4_Missense_Mutation_p.D989Y			P35556	FBN2_HUMAN	fibrillin 2	989	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAGTCCCATCCAACGTAAGG	0.453																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2965-2967)GAT>TAT		fibrillin 2 precursor							116.0	97.0	104.0					5																	127685063		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127685063C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2965G>T	5.37:g.127685063C>A	ENSP00000424571:p.Asp989Tyr					FBN2_uc003kuv.2_Missense_Mutation_p.D956Y	p.D989Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	23	3404	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	989			EGF-like 14; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2965G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658273	0.67586	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92249	-3.0;-3.0;-3.0	3.87	3.87	0.44632	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000020	D	0.95137	0.8424	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.95660	0.8714	10	0.87932	D	0	.	17.1166	0.86690	0.0:1.0:0.0:0.0	.	956;989	D6RJI3;P35556	.;FBN2_HUMAN	Y	989;989;956	ENSP00000262464:D989Y;ENSP00000424571:D989Y;ENSP00000425596:D956Y	ENSP00000262464:D989Y	D	-	1	0	FBN2	127712962	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	7.517000	0.81783	2.468000	0.83385	0.655000	0.94253	GAT		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	10	1	0	1.12685e-05	0.004482	1.40753e-05	9	10				
KDM3B	51780	broad.mit.edu	37	5	137708510	137708510	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:137708510A>T	ENST00000314358.5	+	2	540	c.340A>T	c.(340-342)Att>Ttt	p.I114F		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	114					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCGAGTCTCCATTGCACAATG	0.498																																							uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(340-342)ATT>TTT		jumonji domain containing 1B							60.0	58.0	58.0					5																	137708510		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137708510A>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.340A>T	5.37:g.137708510A>T	ENSP00000326563:p.Ile114Phe					KDM3B_uc010jew.1_5'UTR	p.I114F	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			2	540	+			114					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.340A>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.943140	0.34283	.	.	ENSG00000120733	ENST00000314358	T	0.61510	0.1	5.11	2.73	0.32206	.	0.495203	0.21573	N	0.072365	T	0.37019	0.0988	N	0.19112	0.55	0.51767	D	0.999931	B	0.19445	0.036	B	0.18263	0.021	T	0.12734	-1.0536	10	0.49607	T	0.09	-20.4421	4.8146	0.13360	0.4552:0.28:0.2648:0.0	.	114	Q7LBC6	KDM3B_HUMAN	F	114	ENSP00000326563:I114F	ENSP00000326563:I114F	I	+	1	0	KDM3B	137736409	0.064000	0.20934	0.995000	0.50966	0.933000	0.57130	0.737000	0.26144	0.425000	0.26087	0.460000	0.39030	ATT		0.498	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		11	12	0	0	0	0.001368	0	11	12				
PCDHGA10	56106	broad.mit.edu	37	5	140794562	140794563	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:140794562_140794563GG>TT	ENST00000398610.2	+	1	1820_1821	c.1820_1821GG>TT	c.(1819-1821)tGG>tTT	p.W607F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAACGCCTGGCTGTCCTACC	0.708																																							uc003lkl.1		NA																	0					0						c.(1819-1821)TGG>TTT		protocadherin gamma subfamily A, 10 isoform 1																																				SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794562_140794563GG>TT		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	Exception_encountered	5.37:g.140794562_140794563delinsTT	ENSP00000381611:p.Trp607Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.W607F|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.W607F	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1820_1821	+			607			Cadherin 6.|Extracellular (Potential).		Q9Y5E0	Missense_Mutation	DNP	ENST00000398610.2	37	c.1820_1821GG>TT	CCDS47292.1																																																																																				0.708	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		27	32	0	0	0	0.004672	0	27	32				
PPP2R2B	5521	broad.mit.edu	37	5	146030164	146030164	+	Missense_Mutation	SNP	C	C	A	rs143485788	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:146030164C>A	ENST00000394413.3	-	5	1141	c.571G>T	c.(571-573)Gct>Tct	p.A191S	PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A191S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A194S|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A249S|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A180S|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A191S|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A180S|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A191S|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A257S|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A197S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	191					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCATCAGCGGACATGTAG	0.423													C|||	4	0.000798722	0.003	0.0	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0						uc003loe.2		NA																	0				ovary(1)|prostate(1)	2						c.(571-573)GCT>TCT		beta isoform of regulatory subunit B55, protein		C	SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA	9,4397	16.8+/-37.8	0,9,2194	185.0	157.0	166.0		571,571,571,571,580,511,538	6.0	1.0	5	dbSNP_134	166	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	99,99,99,99,99,99,99	0,9,6494	AA,AC,CC		0.0,0.2043,0.0692	benign,benign,benign,benign,benign,benign,benign	191/444,191/444,191/444,191/444,194/447,171/424,180/433	146030164	9,12997	2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146030164C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.571G>T	5.37:g.146030164C>A	ENSP00000377935:p.Ala191Ser					PPP2R2B_uc010jgm.2_Missense_Mutation_p.A180S|PPP2R2B_uc003log.3_Missense_Mutation_p.A191S|PPP2R2B_uc003lof.3_Missense_Mutation_p.A191S|PPP2R2B_uc003loi.3_Missense_Mutation_p.A194S|PPP2R2B_uc003loh.3_Missense_Mutation_p.A191S|PPP2R2B_uc003loj.3_Missense_Mutation_p.A171S|PPP2R2B_uc003lok.3_Missense_Mutation_p.A180S|PPP2R2B_uc011dbu.1_Missense_Mutation_p.A197S|PPP2R2B_uc011dbv.1_Missense_Mutation_p.A249S	p.A191S	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1096	-			191			WD 3.		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.571G>T	CCDS4284.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	21.2	4.118414	0.77323	0.002043	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	6.0	6.0	0.97389	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.046170	0.85682	D	0.000000	T	0.43344	0.1243	L	0.59967	1.855	0.80722	D	1	B;B;B;B;B;B	0.33299	0.396;0.112;0.047;0.396;0.407;0.014	B;B;B;B;B;B	0.43018	0.323;0.401;0.284;0.395;0.405;0.285	T	0.07347	-1.0777	10	0.30078	T	0.28	-10.2667	20.4949	0.99206	0.0:1.0:0.0:0.0	.	249;197;180;257;194;191	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	S	191;180;257;191;191;191;180;194;197;249	ENSP00000377935:A191S;ENSP00000431320:A180S;ENSP00000377936:A257S;ENSP00000377933:A191S;ENSP00000349283:A191S;ENSP00000398779:A191S;ENSP00000377932:A180S;ENSP00000336591:A194S;ENSP00000421396:A197S;ENSP00000377931:A249S	ENSP00000336591:A194S	A	-	1	0	AC011357.1	146010357	0.997000	0.39634	1.000000	0.80357	0.913000	0.54294	2.529000	0.45632	2.848000	0.98002	0.655000	0.94253	GCT		0.423	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	17	1	0	0.000157383	0.00308	0.000182879	8	17				
SAP30L	79685	broad.mit.edu	37	5	153835567	153835567	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:153835567G>T	ENST00000297109.6	+	4	1179	c.531G>T	c.(529-531)gaG>gaT	p.E177D	SAP30L_ENST00000426761.2_Missense_Mutation_p.E131D|SAP30L_ENST00000440364.2_Missense_Mutation_p.E136D	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGAAATCGGAGGGTGGCAAGC	0.433																																							uc003lvk.2		NA																	0					0						c.(529-531)GAG>GAT		SAP30-like isoform 1							139.0	124.0	130.0					5																	153835567		2203	4300	6503	SO:0001583	missense	79685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding	g.chr5:153835567G>T	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.531G>T	5.37:g.153835567G>T	ENSP00000297109:p.Glu177Asp					SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Missense_Mutation_p.E136D|SAP30L_uc011ddd.1_Missense_Mutation_p.E131D	p.E177D	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		4	1179	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	177					E9PAU7|E9PAY2	Missense_Mutation	SNP	ENST00000297109.6	37	c.531G>T	CCDS4326.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.739311	0.00681	.	.	ENSG00000164576	ENST00000297109;ENST00000440364;ENST00000426761	.	.	.	6.03	1.23	0.21249	.	0.141690	0.64402	N	0.000006	T	0.13586	0.0329	N	0.01576	-0.805	0.41859	D	0.990211	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.30736	-0.9968	9	0.02654	T	1	-21.4365	4.9766	0.14144	0.3778:0.2634:0.3588:0.0	.	131;136;177	E9PAY2;E9PAU7;Q9HAJ7	.;.;SP30L_HUMAN	D	177;136;131	.	ENSP00000297109:E177D	E	+	3	2	SAP30L	153815760	0.997000	0.39634	0.075000	0.20258	0.145000	0.21501	0.497000	0.22514	-0.054000	0.13266	-1.692000	0.00727	GAG		0.433	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		16	33	1	0	3.45872e-05	0.004007	4.2515e-05	16	33				
KIF4B	285643	broad.mit.edu	37	5	154394958	154394958	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:154394958T>A	ENST00000435029.4	+	1	1699	c.1539T>A	c.(1537-1539)acT>acA	p.T513T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	513					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTTTACCACTCAGCATGCTC	0.498																																							uc010jih.1		NA																	0				ovary(1)	1						c.(1537-1539)ACT>ACA		kinesin family member 4B							92.0	96.0	94.0					5																	154394958		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394958T>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1539T>A	5.37:g.154394958T>A							p.T513T	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1699	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	513			Potential.			Silent	SNP	ENST00000435029.4	37	c.1539T>A	CCDS47324.1																																																																																				0.498	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			11	33	0	0	0	0.008291	0	11	33				
HAVCR2	84868	broad.mit.edu	37	5	156533651	156533651	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:156533651C>A	ENST00000307851.4	-	2	1111	c.381G>T	c.(379-381)ttG>ttT	p.L127F	HAVCR2_ENST00000522593.1_Missense_Mutation_p.L127F|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	127						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTTGATGACCAACTTCAGGT	0.408																																							uc003lwk.1		NA																	0					0						c.(379-381)TTG>TTT		T cell immunoglobulin mucin 3 precursor							96.0	84.0	88.0					5																	156533651		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156533651C>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.381G>T	5.37:g.156533651C>A	ENSP00000312002:p.Leu127Phe					HAVCR2_uc003lwl.2_Missense_Mutation_p.L127F	p.L127F	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	525	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	127			Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.381G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215092	0.58452	.	.	ENSG00000135077	ENST00000307851;ENST00000522593;ENST00000524219	T;T;T	0.68025	1.15;1.75;-0.3	5.48	3.65	0.41850	Immunoglobulin subtype (1);	0.000000	0.51477	D	0.000089	D	0.82761	0.5107	M	0.89968	3.075	0.37835	D	0.928852	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86651	0.1898	10	0.87932	D	0	-13.5268	10.1499	0.42786	0.0:0.8217:0.0:0.1783	.	127;127	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	F	127;127;10	ENSP00000312002:L127F;ENSP00000430873:L127F;ENSP00000430328:L10F	ENSP00000312002:L127F	L	-	3	2	HAVCR2	156466229	0.329000	0.24696	0.389000	0.26208	0.653000	0.38743	0.684000	0.25364	1.410000	0.46936	0.655000	0.94253	TTG		0.408	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			6	17	1	0	0.00116845	0.001168	0.00129404	6	17				
GABRA6	2559	broad.mit.edu	37	5	161113970	161113970	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:161113970T>C	ENST00000274545.5	+	3	619	c.186T>C	c.(184-186)atT>atC	p.I62I	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Silent_p.I62I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	62					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAACAGACATTTATGTGACCA	0.458										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(184-186)ATT>ATC		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						237.0	223.0	228.0					5																	161113970		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113970T>C		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.186T>C	5.37:g.161113970T>C		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.I62I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	524	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	62			Extracellular (Probable).		A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.186T>C	CCDS4356.1																																																																																				0.458	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			3	53	0	0	0	0.004672	0	3	53				
GABRG2	2566	broad.mit.edu	37	5	161576309	161576309	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:161576309A>G	ENST00000361925.4	+	8	1338	c.1118A>G	c.(1117-1119)aAg>aGg	p.K373R	GABRG2_ENST00000356592.3_Missense_Mutation_p.K373R|GABRG2_ENST00000414552.2_Missense_Mutation_p.K413R|GABRG2_ENST00000393933.4_Missense_Mutation_p.K278R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	373					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATAAAAAGAAGAAAAACCCT	0.388																																							uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(1117-1119)AAG>AGG		gamma-aminobutyric acid A receptor, gamma 2							97.0	84.0	89.0					5																	161576309		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161576309A>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1118A>G	5.37:g.161576309A>G	ENSP00000354651:p.Lys373Arg					GABRG2_uc010jjc.2_Missense_Mutation_p.K413R|GABRG2_uc003lyy.3_Missense_Mutation_p.K373R|GABRG2_uc011dej.1_Missense_Mutation_p.K278R	p.K373R	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	8	1476	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	373			Cytoplasmic (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1118A>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174566	0.38413	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86164	-2.08;-2.08;-1.97;-1.97	5.61	4.47	0.54385	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.519392	0.22516	N	0.059026	T	0.72326	0.3446	N	0.04880	-0.145	0.58432	D	0.999999	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.15870	0.014;0.006;0.003	T	0.63418	-0.6642	10	0.20519	T	0.43	.	11.1751	0.48595	0.9286:0.0:0.0713:0.0	.	413;373;373	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	R	373;413;373;278	ENSP00000349000:K373R;ENSP00000410732:K413R;ENSP00000354651:K373R;ENSP00000377510:K278R	ENSP00000349000:K373R	K	+	2	0	GABRG2	161508887	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.989000	0.76219	0.969000	0.38237	0.528000	0.53228	AAG		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			6	22	0	0	0	0.001984	0	6	22				
TENM2	57451	broad.mit.edu	37	5	167674058	167674058	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:167674058C>A	ENST00000518659.1	+	27	6153	c.6114C>A	c.(6112-6114)gtC>gtA	p.V2038V	TENM2_ENST00000519204.1_Silent_p.V1917V|TENM2_ENST00000403607.2_Silent_p.V1862V|TENM2_ENST00000545108.1_Silent_p.V2037V|TENM2_ENST00000520394.1_Silent_p.V1799V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2038					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTACCGCCGTCACCTTCGGGT	0.542																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(6085-6087)GTC>GTA		odz, odd Oz/ten-m homolog 2							82.0	82.0	82.0					5																	167674058		1934	4134	6068	SO:0001819	synonymous_variant	57451							g.chr5:167674058C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6114C>A	5.37:g.167674058C>A						ODZ2_uc003lzr.3_Silent_p.V1799V|ODZ2_uc003lzt.3_Silent_p.V1402V|ODZ2_uc010jje.2_Silent_p.V1293V	p.V2029V	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6087	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.6087C>A																																																																																					0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		17	33	1	0	9.16793e-09	0.00499	1.32869e-08	17	33				
FBLL1	345630	broad.mit.edu	37	5	167957216	167957216	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:167957216G>A	ENST00000338333.4	+	1	1096	c.707G>A	c.(706-708)cGc>cAc	p.R236H				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	236					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										CTCAAGTACCGCATGCTCATC	0.662																																							uc011dep.1		NA																	0					0						c.(421-423)CGC>CAC		RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1;          EC=2.1.1.-;							55.0	49.0	51.0					5																	167957216		876	1991	2867	SO:0001583	missense	345630							g.chr5:167957216G>A			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.707G>A	5.37:g.167957216G>A	ENSP00000473383:p.Arg236His						p.R141H	NR_024356						1	635	+									Missense_Mutation	SNP	ENST00000338333.4	37	c.422G>A																																																																																					0.662	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347089.3	NR_024356		5	22	0	0	0	0.000602	0	5	22				
PANK3	79646	broad.mit.edu	37	5	167995915	167995915	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:167995915T>C	ENST00000239231.6	-	2	433	c.117A>G	c.(115-117)caA>caG	p.Q39Q	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	39					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAACTTCTTCTTGCTCTTCCT	0.423																																							uc003lzz.1		NA																	0				ovary(1)	1						c.(115-117)CAA>CAG		pantothenate kinase 3							107.0	102.0	104.0					5																	167995915		2203	4300	6503	SO:0001819	synonymous_variant	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167995915T>C	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.117A>G	5.37:g.167995915T>C							p.Q39Q	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	2	417	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	39					D3DQL1|Q53FJ9|Q7RTX4	Silent	SNP	ENST00000239231.6	37	c.117A>G	CCDS4368.1																																																																																				0.423	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		16	28	0	0	0	0.003163	0	16	28				
SLIT3	6586	broad.mit.edu	37	5	168201290	168201290	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:168201290C>T	ENST00000519560.1	-	13	1664	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	SLIT3_ENST00000404867.3_Silent_p.L415L|SLIT3_ENST00000332966.8_Silent_p.L415L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	415					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGGTCTGCAGCTTGTTGT	0.572																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(1243-1245)CTG>CTA		slit homolog 3 precursor							225.0	213.0	217.0					5																	168201290		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168201290C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1245G>A	5.37:g.168201290C>T						SLIT3_uc010jjg.2_Silent_p.L415L|SLIT3_uc010jji.2_Silent_p.L415L|SLIT3_uc003mac.1_Silent_p.L212L	p.L415L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1665	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	415			LRR 11.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1245G>A	CCDS4369.1																																																																																				0.572	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		48	97	0	0	0	0.00361	0	48	97				
SLIT3	6586	broad.mit.edu	37	5	168310291	168310292	+	Missense_Mutation	DNP	CC	CC	AA	rs544300249		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:168310291_168310292CC>AA	ENST00000519560.1	-	5	882_883	c.463_464GG>TT	c.(463-465)GGc>TTc	p.G155F	SLIT3_ENST00000404867.3_Missense_Mutation_p.G155F|SLIT3_ENST00000332966.8_Missense_Mutation_p.G155F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	155					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G155D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGGTGATGCCGCGGAACGCC	0.505																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(3)|skin(1)	4						c.(463-465)GGC>TTC		slit homolog 3 precursor																																				SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310291_168310292CC>AA	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.463_464delinsAA	5.37:g.168310291_168310292delinsAA	ENSP00000430333:p.Gly155Phe					SLIT3_uc010jjg.2_Missense_Mutation_p.G155F|SLIT3_uc010jji.2_Missense_Mutation_p.G155F	p.G155F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	883_884	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	155			LRR 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	DNP	ENST00000519560.1	37	c.463_464GG>TT	CCDS4369.1																																																																																				0.505	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		11	21	0	0	0	0.004672	0	11	21				
DOCK2	1794	broad.mit.edu	37	5	169507218	169507218	+	Missense_Mutation	SNP	G	G	A	rs535531464		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:169507218G>A	ENST00000256935.8	+	50	5298	c.5218G>A	c.(5218-5220)Gcc>Acc	p.A1740T	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.A1232T|DOCK2_ENST00000540750.1_Missense_Mutation_p.A801T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1740					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCATGCGGCCATCCCCCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18341	0.001		0.0	False		,,,				2504	0.0						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5218-5220)GCC>ACC		dedicator of cytokinesis 2							139.0	114.0	123.0					5																	169507218		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507218G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5218G>A	5.37:g.169507218G>A	ENSP00000256935:p.Ala1740Thr					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A1232T|DOCK2_uc003mah.2_Missense_Mutation_p.A296T	p.A1740T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5298	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1740					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5218G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	1.081	-0.667103	0.03428	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08282	3.74;3.39;3.11	5.23	-0.00322	0.14027	.	1.079660	0.07094	N	0.839312	T	0.05502	0.0145	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45071	-0.9286	10	0.14656	T	0.56	.	11.7905	0.52068	0.3096:0.0:0.6904:0.0	.	1232;296;1740	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	T	1740;1232;801	ENSP00000256935:A1740T;ENSP00000429283:A1232T;ENSP00000438827:A801T	ENSP00000256935:A1740T	A	+	1	0	DOCK2	169439796	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.719000	0.25881	0.056000	0.16144	0.650000	0.86243	GCC		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		10	29	0	0	0	0.006214	0	10	29				
GABRP	2568	broad.mit.edu	37	5	170222293	170222293	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:170222293G>T	ENST00000518525.1	+	6	786	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	GABRP_ENST00000519598.1_Missense_Mutation_p.D108Y|GABRP_ENST00000519385.1_Missense_Mutation_p.D108Y|GABRP_ENST00000265294.4_Missense_Mutation_p.D108Y			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	108					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTCACTCTGGATGCCCGCCT	0.572																																							uc003mau.2		NA																	0				breast(1)	1						c.(322-324)GAT>TAT		gamma-aminobutyric acid (GABA) A receptor, pi							123.0	127.0	126.0					5																	170222293		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222293G>T	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.322G>T	5.37:g.170222293G>T	ENSP00000430100:p.Asp108Tyr					GABRP_uc011dev.1_Missense_Mutation_p.D108Y	p.D108Y	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	520	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	108			Extracellular (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.322G>T	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902405	0.92035	.	.	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091451	0.85682	D	0.000000	D	0.89681	0.6785	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.89999	0.4113	10	0.87932	D	0	.	19.5561	0.95349	0.0:0.0:1.0:0.0	.	108;108	E7EWG0;O00591	.;GBRP_HUMAN	Y	108;108;108;29;108;108;108	ENSP00000428804:D108Y;ENSP00000430188:D108Y;ENSP00000430100:D108Y;ENSP00000265294:D108Y;ENSP00000430727:D108Y;ENSP00000430772:D108Y	ENSP00000265294:D108Y	D	+	1	0	GABRP	170154871	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.795000	0.99099	2.784000	0.95788	0.643000	0.83706	GAT		0.572	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		36	64	1	0	3.86903e-22	0.002836	7.19622e-22	36	64				
GABRP	2568	broad.mit.edu	37	5	170235603	170235603	+	Splice_Site	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:170235603G>A	ENST00000518525.1	+	9	1143		c.e9-1		GABRP_ENST00000519598.1_Splice_Site|GABRP_ENST00000519385.1_Splice_Site|GABRP_ENST00000265294.4_Splice_Site			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi						signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACCCTTTCAGGAAATTACAC	0.403																																							uc003mau.2		NA																	0				breast(1)	1						c.e8-1		gamma-aminobutyric acid (GABA) A receptor, pi							160.0	143.0	149.0					5																	170235603		2203	4300	6503	SO:0001630	splice_region_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235603G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.680-1G>A	5.37:g.170235603G>A						GABRP_uc011dev.1_Splice_Site_p.G227_splice	p.G227_splice	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	878	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)						A8KA36|D3DQL2|Q32MJ1	Splice_Site	SNP	ENST00000518525.1	37	c.680_splice	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434176	0.43224	.	.	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1391	0.89633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GABRP	170168181	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	9.800000	0.99124	2.431000	0.82371	0.655000	0.94253	.		0.403	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	Intron	8	28	0	0	0	0.004482	0	8	28				
STK10	6793	broad.mit.edu	37	5	171481639	171481639	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:171481639G>T	ENST00000176763.5	-	17	2929	c.2586C>A	c.(2584-2586)caC>caA	p.H862Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	862	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGGTTCTCGTGTTTCTGCT	0.652																																							uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2584-2586)CAC>CAA		serine/threonine kinase 10							153.0	135.0	141.0					5																	171481639		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171481639G>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2586C>A	5.37:g.171481639G>T	ENSP00000176763:p.His862Gln						p.H862Q	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		17	2886	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	862			Gln-rich.|Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2586C>A	CCDS34290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.10|18.10	3.548722|3.548722	0.65311|0.65311	.|.	.|.	ENSG00000072786|ENSG00000072786	ENST00000176763;ENST00000545839|ENST00000520476	T|.	0.33438|.	1.41|.	4.75|4.75	-4.22|-4.22	0.03800|0.03800	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69663|0.69663	0.3136|0.3136	M|M	0.73598|0.73598	2.24|2.24	0.49915|0.49915	D|D	0.999838|0.999838	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.72537|0.72537	-0.4263|-0.4263	10|5	0.52906|.	T|.	0.07|.	.|.	15.2738|15.2738	0.73726|0.73726	0.2257:0.0:0.7743:0.0|0.2257:0.0:0.7743:0.0	.|.	862|.	O94804|.	STK10_HUMAN|.	Q|K	862|135	ENSP00000176763:H862Q|.	ENSP00000176763:H862Q|.	H|T	-|-	3|2	2|0	STK10|STK10	171414244|171414244	0.000000|0.000000	0.05858|0.05858	0.972000|0.972000	0.41901|0.41901	0.996000|0.996000	0.88848|0.88848	-1.484000|-1.484000	0.02316|0.02316	-0.665000|-0.665000	0.05317|0.05317	0.561000|0.561000	0.74099|0.74099	CAC|ACG		0.652	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		25	86	1	0	4.72057e-08	0.003954	6.64869e-08	25	86				
SH3PXD2B	285590	broad.mit.edu	37	5	171765999	171765999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:171765999C>A	ENST00000311601.5	-	13	2280	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	704					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGCCCCTCTCCTGGGAGG	0.642																																							uc003mbr.2		NA																	0				ovary(3)|skin(1)	4						c.(2110-2112)GAG>TAG		SH3 and PX domains 2B							36.0	38.0	38.0					5																	171765999		2203	4300	6503	SO:0001587	stop_gained	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765999C>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2110G>T	5.37:g.171765999C>A	ENSP00000309714:p.Glu704*						p.E704*	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2281	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	704					B6F0V2|Q9P2Q1	Nonsense_Mutation	SNP	ENST00000311601.5	37	c.2110G>T	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	39	7.314780	0.98207	.	.	ENSG00000174705	ENST00000311601	.	.	.	5.42	5.42	0.78866	.	0.209848	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.3185	12.4551	0.55700	0.0:0.8313:0.1687:0.0	.	.	.	.	X	704	.	.	E	-	1	0	SH3PXD2B	171698604	0.438000	0.25602	0.960000	0.40013	0.824000	0.46624	2.623000	0.46435	2.539000	0.85634	0.561000	0.74099	GAG		0.642	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		8	20	1	0	1.06961e-07	0.00308	1.48315e-07	8	20				
RPL26L1	51121	broad.mit.edu	37	5	172395553	172395553	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:172395553G>T	ENST00000521476.1	+	3	384	c.260G>T	c.(259-261)cGt>cTt	p.R87L	RPL26L1_ENST00000519974.1_Missense_Mutation_p.R87L|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R87L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R87L			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGGGTGCAGCGTGAGAAGGCC	0.502																																							uc003mcc.2		NA																	0					0						c.(259-261)CGT>CTT		ribosomal protein L26-like 1							193.0	176.0	182.0					5																	172395553		2203	4300	6503	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172395553G>T	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.260G>T	5.37:g.172395553G>T	ENSP00000428223:p.Arg87Leu						p.R87L	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	302	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	87					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.260G>T	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357370	0.61293	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.58	2.74	0.32292	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.102374	0.64402	D	0.000002	T	0.57666	0.2069	M	0.71206	2.165	0.58432	D	0.999995	B	0.06786	0.001	B	0.15052	0.012	T	0.55166	-0.8183	9	0.48119	T	0.1	.	8.6544	0.34055	0.0809:0.0:0.7672:0.1519	.	87	Q9UNX3	RL26L_HUMAN	L	87	.	ENSP00000265100:R87L	R	+	2	0	RPL26L1	172328159	0.999000	0.42202	0.989000	0.46669	0.953000	0.61014	2.489000	0.45285	0.622000	0.30249	0.655000	0.94253	CGT		0.502	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		20	90	1	0	8.34094e-07	0.008871	1.10433e-06	20	90				
UNC5A	90249	broad.mit.edu	37	5	176289768	176289768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:176289768C>T	ENST00000329542.4	+	2	488	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	UNC5A_ENST00000261961.3_5'Flank	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	72	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCGCCACGCAGATCTTCTT	0.637																																							uc003mey.2		NA																	0				skin(1)	1						c.(214-216)CAG>TAG		netrin receptor Unc5h1 precursor							146.0	140.0	142.0					5																	176289768		2203	4300	6503	SO:0001587	stop_gained	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176289768C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.214C>T	5.37:g.176289768C>T	ENSP00000332737:p.Gln72*					UNC5A_uc003mex.1_Nonsense_Mutation_p.Q72*|UNC5A_uc010jkg.1_5'UTR	p.Q72*	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	406	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	72			Ig-like.|Extracellular (Potential).		B2RXE6|Q8TF26|Q96GP4	Nonsense_Mutation	SNP	ENST00000329542.4	37	c.214C>T	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.962776|7.962776	0.98583|0.98583	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000509580|ENST00000329542	.|.	.|.	.|.	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|.	0.75874|.	0.3909|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80801|.	-0.1220|.	4|.	.|0.87932	.|D	.|0	-22.0928|-22.0928	16.4942|16.4942	0.84223|0.84223	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	37|72	.|.	.|ENSP00000332737:Q72X	A|Q	+|+	2|1	0|0	UNC5A|UNC5A	176222374|176222374	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.876000|0.876000	0.50452|0.50452	7.534000|7.534000	0.82004|0.82004	2.206000|2.206000	0.71126|0.71126	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.637	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		40	89	0	0	0	0.011902	0	40	89				
ADAMTS2	9509	broad.mit.edu	37	5	178580565	178580565	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:178580565A>G	ENST00000251582.7	-	9	1543	c.1442T>C	c.(1441-1443)cTc>cCc	p.L481P	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.L481P	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	481	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCCCGGGAGCTGGGGCAG	0.667																																							uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1441-1443)CTC>CCC		ADAM metallopeptidase with thrombospondin type 1							58.0	47.0	50.0					5																	178580565		2202	4299	6501	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178580565A>G	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1442T>C	5.37:g.178580565A>G	ENSP00000251582:p.Leu481Pro					ADAMTS2_uc011dgm.1_Missense_Mutation_p.L481P	p.L481P	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	9	1442	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	481			Disintegrin.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1442T>C	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175664	0.78564	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.68903	-0.36;-0.36	4.58	4.58	0.56647	Metallopeptidase, catalytic domain (1);	0.000000	0.47852	D	0.000218	T	0.78717	0.4327	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81061	-0.1103	10	0.72032	D	0.01	.	13.4436	0.61127	1.0:0.0:0.0:0.0	.	481;481	O95450-2;O95450	.;ATS2_HUMAN	P	481	ENSP00000251582:L481P;ENSP00000274609:L481P	ENSP00000251582:L481P	L	-	2	0	ADAMTS2	178513171	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	9.051000	0.93849	1.825000	0.53177	0.379000	0.24179	CTC		0.667	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	17	0	0	0	0.009096	0	4	17				
MAML1	9794	broad.mit.edu	37	5	179192625	179192625	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:179192625G>T	ENST00000292599.3	+	2	877	c.614G>T	c.(613-615)aGt>aTt	p.S205I	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTAACCCCAGTGAGTCATTT	0.537																																							uc003mkm.2		NA																	0				lung(4)|ovary(2)	6						c.(613-615)AGT>ATT		mastermind-like 1							50.0	49.0	49.0					5																	179192625		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192625G>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.614G>T	5.37:g.179192625G>T	ENSP00000292599:p.Ser205Ile					MAML1_uc003mkn.1_Missense_Mutation_p.S205I	p.S205I	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	877	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	205						Missense_Mutation	SNP	ENST00000292599.3	37	c.614G>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718641	0.30503	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.43294	0.95	4.9	2.79	0.32731	.	0.563076	0.17567	N	0.169600	T	0.35941	0.0949	L	0.36672	1.1	0.22457	N	0.999085	P;P	0.43750	0.816;0.523	P;B	0.48334	0.574;0.248	T	0.12708	-1.0537	10	0.49607	T	0.09	-0.1945	4.1995	0.10458	0.5355:0.0:0.4645:0.0	.	242;205	Q59GH4;Q92585	.;MAML1_HUMAN	I	205;242	ENSP00000292599:S205I	ENSP00000292599:S205I	S	+	2	0	MAML1	179125231	0.024000	0.19004	0.051000	0.19133	0.888000	0.51559	1.664000	0.37439	1.047000	0.40274	0.455000	0.32223	AGT		0.537	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		8	25	1	0	7.48243e-07	0.006214	9.9376e-07	8	25				
LTC4S	4056	broad.mit.edu	37	5	179221117	179221117	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:179221117C>A	ENST00000292596.10	+	1	131	c.36C>A	c.(34-36)acC>acA	p.T12T	MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Silent_p.T12T	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	12					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	CTGCTGTCACCCTCCTGGGAG	0.622																																							uc003mko.2		NA																	0					0						c.(34-36)ACC>ACA		leukotriene C4 synthase	Glutathione(DB00143)						156.0	99.0	118.0					5																	179221117		2203	4300	6503	SO:0001819	synonymous_variant	4056				hormone biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|prostanoid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear outer membrane	enzyme activator activity|glutathione peroxidase activity|leukotriene-C4 synthase activity|lipid binding	g.chr5:179221117C>A	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.36C>A	5.37:g.179221117C>A						MAML1_uc003mkn.1_3'UTR	p.T12T	NM_145867	NP_665874	Q16873	LTC4S_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	132	+	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	12			Helical.		Q8N6P0|Q9UC73|Q9UD18	Silent	SNP	ENST00000292596.10	37	c.36C>A	CCDS34316.1																																																																																				0.622	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317536.2	NM_000897		11	29	1	0	9.70103e-10	0.008291	1.45558e-09	11	29				
FLT4	2324	broad.mit.edu	37	5	180038481	180038481	+	Splice_Site	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:180038481T>A	ENST00000261937.6	-	27	3616		c.e27-2		FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000393347.3_Splice_Site	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4						blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCTTCCTCCTGGCGGGAACA	0.682																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.e27-1		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						36.0	41.0	39.0					5																	180038481		2203	4300	6503	SO:0001630	splice_region_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180038481T>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3538-2A>T	5.37:g.180038481T>A						FLT4_uc003mlz.3_Splice_Site_p.E1180_splice	p.E1180_splice	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	27	3617	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)						A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37	c.3538_splice	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.448802	0.26074	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8019	0.57591	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT4	179971087	1.000000	0.71417	0.994000	0.49952	0.101000	0.19017	3.546000	0.53656	2.016000	0.59253	0.454000	0.30748	.		0.682	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Intron	8	29	0	0	0	0.004482	0	8	29				
MGAT1	4245	broad.mit.edu	37	5	180219260	180219260	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:180219260C>A	ENST00000446023.2	-	3	1462	c.712G>T	c.(712-714)Gtc>Ttc	p.V238F	MGAT1_ENST00000427865.2_Missense_Mutation_p.V238F|MGAT1_ENST00000393340.3_Missense_Mutation_p.V238F|MGAT1_ENST00000333055.3_Missense_Mutation_p.V238F|MGAT1_ENST00000307826.4_Missense_Mutation_p.V238F	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	238					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCCGAGACGCACCACAGG	0.647																																							uc003mmg.3		NA																	0				ovary(1)	1						c.(712-714)GTC>TTC		mannosyl (alpha-1,3-)-glycoprotein							48.0	49.0	48.0					5																	180219260		2196	4288	6484	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219260C>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.712G>T	5.37:g.180219260C>A	ENSP00000404718:p.Val238Phe					MGAT1_uc010jlf.2_Missense_Mutation_p.V238F|MGAT1_uc010jlg.2_Missense_Mutation_p.V238F|MGAT1_uc003mmh.3_Missense_Mutation_p.V238F|MGAT1_uc010jlh.2_Missense_Mutation_p.V238F|MGAT1_uc003mmi.3_Missense_Mutation_p.V238F	p.V238F	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1207	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	238			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.712G>T	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795224	0.70452	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.56	4.64	0.57946	.	0.068557	0.64402	D	0.000020	D	0.94745	0.8304	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.95131	0.8255	10	0.87932	D	0	-21.53	14.9902	0.71381	0.0:0.8565:0.1435:0.0	.	238	P26572	MGAT1_HUMAN	F	238;238;238;238;95;238	ENSP00000332073:V238F;ENSP00000311888:V238F;ENSP00000404718:V238F;ENSP00000377010:V238F;ENSP00000402838:V238F	ENSP00000311888:V238F	V	-	1	0	MGAT1	180151866	0.903000	0.30736	0.999000	0.59377	0.849000	0.48306	1.178000	0.31981	2.777000	0.95525	0.655000	0.94253	GTC		0.647	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		16	44	1	0	3.41278e-10	0.00499	5.20335e-10	16	44				
GMDS	2762	broad.mit.edu	37	6	1961137	1961137	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:1961137C>A	ENST00000380815.4	-	5	678	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	GMDS_ENST00000530927.1_Missense_Mutation_p.D107Y	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	137					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTAACTGCATCTAGAAGTCGT	0.478																																							uc003mtq.2		NA																	0				central_nervous_system(1)	1						c.(409-411)GAT>TAT		GDP-mannose 4,6-dehydratase							118.0	112.0	114.0					6																	1961137		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1961137C>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.409G>T	6.37:g.1961137C>A	ENSP00000370194:p.Asp137Tyr						p.D137Y	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	5	599	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	137					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.409G>T	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444189	0.63067	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.93953	-3.32;-3.32	5.26	5.26	0.73747	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97762	1.0221	10	0.87932	D	0	-18.041	18.8773	0.92343	0.0:1.0:0.0:0.0	.	137	O60547	GMDS_HUMAN	Y	107;137	ENSP00000436726:D107Y;ENSP00000370194:D137Y	ENSP00000370194:D137Y	D	-	1	0	GMDS	1906136	1.000000	0.71417	0.968000	0.41197	0.351000	0.29236	7.445000	0.80570	2.458000	0.83093	0.655000	0.94253	GAT		0.478	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			27	36	1	0	1.26454e-06	0.005443	1.67294e-06	27	36				
TUBB2A	7280	broad.mit.edu	37	6	3155958	3155958	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:3155958C>A	ENST00000333628.3	-	3	240	c.178G>T	c.(178-180)Gta>Tta	p.V60L	TUBB2A_ENST00000489942.1_5'UTR|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	60					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCCCGAGGTACATATTTGTTA	0.527																																							uc003mvc.2		NA																	0				skin(1)	1						c.(178-180)GTA>TTA		tubulin, beta 2							55.0	52.0	53.0					6																	3155958		2203	4300	6503	SO:0001583	missense	7280				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr6:3155958C>A	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.178G>T	6.37:g.3155958C>A	ENSP00000369703:p.Val60Leu					TUBB2A_uc003mvb.2_Missense_Mutation_p.V53L|TUBB2A_uc003mvd.2_Intron	p.V60L	NM_001069	NP_001060	Q13885	TBB2A_HUMAN			3	264	-	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	60					Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	c.178G>T	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045326	0.36085	.	.	ENSG00000137267	ENST00000333628	T	0.70164	-0.46	5.55	4.69	0.59074	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.48767	U	0.000180	D	0.85596	0.5733	H	0.97540	4.025	0.58432	D	0.999998	D;B	0.76494	0.999;0.121	D;P	0.80764	0.994;0.619	D	0.90966	0.4816	10	0.87932	D	0	.	14.6866	0.69055	0.0:0.9299:0.0:0.0701	.	60;60	Q13885;Q8N6N5	TBB2A_HUMAN;.	L	60	ENSP00000369703:V60L	ENSP00000369703:V60L	V	-	1	0	TUBB2A	3100957	1.000000	0.71417	0.084000	0.20598	0.055000	0.15305	5.856000	0.69518	1.481000	0.48307	-0.142000	0.14014	GTA		0.527	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069		7	38	1	0	1.06961e-07	0.00308	1.48315e-07	7	38				
F13A1	2162	broad.mit.edu	37	6	6305730	6305730	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:6305730C>A	ENST00000264870.3	-	3	438	c.173G>T	c.(172-174)tGg>tTg	p.W58L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	58					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTAGTGTCCCATCTCTCCTT	0.403																																							uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(172-174)TGG>TTG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						217.0	177.0	191.0					6																	6305730		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305730C>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.173G>T	6.37:g.6305730C>A	ENSP00000264870:p.Trp58Leu					F13A1_uc011dib.1_Intron	p.W58L	NM_000129	NP_000120	P00488	F13A_HUMAN			3	296	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	58					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.173G>T	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.145073|3.145073	0.57044|0.57044	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000451619|ENST00000264870;ENST00000414279;ENST00000431222	.|D;D	.|0.85258	.|-1.96;-1.96	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	.|0.366463	.|0.30455	.|N	.|0.009590	T|T	0.67988|0.67988	0.2952|0.2952	L|L	0.54323|0.54323	1.7|1.7	0.30959|0.30959	N|N	0.723913|0.723913	.|B	.|0.31931	.|0.347	.|B	.|0.32393	.|0.145	T|T	0.59705|0.59705	-0.7404|-0.7404	5|10	.|0.13108	.|T	.|0.6	.|.	10.3102|10.3102	0.43704|0.43704	0.0:0.9108:0.0:0.0892|0.0:0.9108:0.0:0.0892	.|.	.|58	.|P00488	.|F13A_HUMAN	W|L	83|58;58;96	.|ENSP00000264870:W58L;ENSP00000413334:W58L	.|ENSP00000264870:W58L	G|W	-|-	1|2	0|0	F13A1|F13A1	6250729|6250729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.837000|0.837000	0.47467|0.47467	3.243000|3.243000	0.51392|0.51392	2.572000|2.572000	0.86782|0.86782	0.585000|0.585000	0.79938|0.79938	GGG|TGG		0.403	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		10	36	1	0	0.000442599	0.006214	0.000502282	10	36				
GCM2	9247	broad.mit.edu	37	6	10874559	10874559	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:10874559G>T	ENST00000379491.4	-	5	1337	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	397					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTTCATAGCAGGGGGCTGGTA	0.547																																							uc003mzn.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1189-1191)CCT>CAT		glial cells missing homolog 2							131.0	127.0	129.0					6																	10874559		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874559G>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1190C>A	6.37:g.10874559G>T	ENSP00000368805:p.Pro397His					SYCP2L_uc011dim.1_Intron	p.P397H	NM_004752	NP_004743	O75603	GCM2_HUMAN			5	1262	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	397					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.1190C>A	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849468	0.71603	.	.	ENSG00000124827	ENST00000379491	T	0.71222	-0.55	5.61	4.72	0.59763	.	0.099859	0.64402	D	0.000001	T	0.77157	0.4089	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	T	0.81523	-0.0894	10	0.87932	D	0	-9.2472	16.7555	0.85498	0.0:0.1291:0.8708:0.0	.	397	O75603	GCM2_HUMAN	H	397	ENSP00000368805:P397H	ENSP00000368805:P397H	P	-	2	0	GCM2	10982545	1.000000	0.71417	0.850000	0.33497	0.907000	0.53573	5.703000	0.68340	1.459000	0.47892	0.655000	0.94253	CCT		0.547	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			38	91	1	0	3.62531e-18	0.004289	6.53555e-18	38	91				
ADTRP	84830	broad.mit.edu	37	6	11723638	11723638	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:11723638T>A	ENST00000414691.3	-	5	1012	c.602A>T	c.(601-603)tAc>tTc	p.Y201F	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.Y219F|ADTRP_ENST00000379413.2_Missense_Mutation_p.Y201F	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GATGAAGACGTAGCTGAGAGA	0.493																																							uc003nab.2		NA																	0					0						c.(601-603)TAC>TTC		hypothetical protein LOC84830 isoform 2							201.0	200.0	200.0					6																	11723638		2203	4300	6503	SO:0001583	missense	84830					integral to membrane		g.chr6:11723638T>A	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.602A>T	6.37:g.11723638T>A	ENSP00000404416:p.Tyr201Phe					C6orf105_uc003naa.2_RNA|C6orf105_uc011dip.1_Missense_Mutation_p.Y219F	p.Y201F	NM_032744	NP_116133	Q96IZ2	CF105_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193)		5	890	-	Ovarian(93;0.0848)|Breast(50;0.0871)	all_hematologic(90;0.135)	201			Helical; (Potential).		B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	c.602A>T	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273630	0.23221	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000503285;ENST00000379413	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.96	1.88	0.25563	.	0.903764	0.09757	N	0.759818	T	0.09730	0.0239	M	0.64997	1.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.40608	-0.9554	10	0.10377	T	0.69	-6.608	6.3499	0.21370	0.1517:0.0:0.3155:0.5328	.	219;201	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	F	201;219;62;201	ENSP00000404416:Y201F;ENSP00000229583:Y219F;ENSP00000426507:Y62F;ENSP00000368723:Y201F	ENSP00000229583:Y219F	Y	-	2	0	C6orf105	11831624	0.013000	0.17824	0.149000	0.22428	0.032000	0.12392	0.494000	0.22467	0.448000	0.26722	0.533000	0.62120	TAC		0.493	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		33	153	0	0	0	0.002836	0	33	153				
SLC17A4	10050	broad.mit.edu	37	6	25762211	25762211	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:25762211C>G	ENST00000377905.4	+	2	140	c.21C>G	c.(19-21)gtC>gtG	p.V7V	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Silent_p.V7V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	7					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCAGATGTCAAGGCTACAG	0.403																																							uc003nfe.2		NA																	0				skin(1)	1						c.(19-21)GTC>GTG		solute carrier family 17 (sodium phosphate),							84.0	78.0	80.0					6																	25762211		2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25762211C>G	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.21C>G	6.37:g.25762211C>G						SLC17A4_uc011djx.1_Silent_p.V7V|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR	p.V7V	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			2	140	+			7					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.21C>G	CCDS4564.1																																																																																				0.403	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			7	21	0	0	0	0.004482	0	7	21				
PGBD1	84547	broad.mit.edu	37	6	28251657	28251657	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:28251657G>T	ENST00000405948.2	+	2	487	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	PGBD1_ENST00000259883.3_Missense_Mutation_p.D23Y	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	23						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGGAGGAAGATCCCACCTG	0.537																																							uc003nky.2		NA																	0				ovary(4)	4						c.(67-69)GAT>TAT		piggyBac transposable element derived 1							92.0	97.0	95.0					6																	28251657		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28251657G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.67G>T	6.37:g.28251657G>T	ENSP00000385213:p.Asp23Tyr					PGBD1_uc003nkz.2_Missense_Mutation_p.D23Y	p.D23Y	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			2	437	+			23					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.67G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287444	0.59976	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.02032	4.49;4.49	4.65	4.65	0.58169	Speract/scavenger receptor (1);	.	.	.	.	T	0.01558	0.0050	L	0.27053	0.805	0.21915	N	0.999473	D	0.55385	0.971	P	0.52710	0.707	T	0.50849	-0.8779	9	0.87932	D	0	4.0569	6.7818	0.23650	0.0916:0.1801:0.7283:0.0	.	23	Q96JS3	PGBD1_HUMAN	Y	23	ENSP00000385213:D23Y;ENSP00000259883:D23Y	ENSP00000259883:D23Y	D	+	1	0	PGBD1	28359636	0.928000	0.31464	0.864000	0.33941	0.998000	0.95712	2.590000	0.46154	2.854000	0.98071	0.655000	0.94253	GAT		0.537	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			14	117	1	0	1.5842e-08	0.001855	2.2862e-08	14	117				
ZBED9	114821	broad.mit.edu	37	6	28543261	28543261	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:28543261C>A	ENST00000452236.2	-	3	1838	c.1221G>T	c.(1219-1221)cgG>cgT	p.R407R	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACTTTAATGACCGCAAAAAAG	0.383																																							uc003nlo.2		NA																	0				ovary(1)	1						c.(1219-1221)CGG>CGT		SCAN domain containing 3							47.0	50.0	49.0					6																	28543261		2201	4299	6500	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543261C>A																												ENST00000452236.2:c.1221G>T	6.37:g.28543261C>A							p.R407R	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1839	-			407			Integrase catalytic.			Silent	SNP	ENST00000452236.2	37	c.1221G>T	CCDS34355.1																																																																																				0.383	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	40	1	0	0.000602214	0.000602	0.000676645	5	40				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976208	29976208	+	RNA	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:29976208G>C	ENST00000376797.3	-	0	1053				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGCAGCACAAGGGGCTGCCCA	0.587																																							uc003rtl.3		NA																	0					0						c.(109-111)AAG>AAC		Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038).																																						3137							g.chr6:29976208G>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976208G>C						HLA-G_uc011dmb.1_Intron|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA	p.K37N							2	473	+									Missense_Mutation	SNP	ENST00000376797.3	37	c.111G>C																																																																																					0.587	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		9	37	0	0	0	0.004482	0	9	37				
TRIM26	7726	broad.mit.edu	37	6	30166684	30166684	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:30166684C>A	ENST00000454678.2	-	4	633	c.197G>T	c.(196-198)cGa>cTa	p.R66L	TRIM26_ENST00000437089.1_Missense_Mutation_p.R66L|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Missense_Mutation_p.R66L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	66					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CCACACGGGTCGGATGTTCTC	0.632																																							uc003npr.2		NA																	0				ovary(2)|lung(1)	3						c.(196-198)CGA>CTA		tripartite motif-containing 26							70.0	67.0	68.0					6																	30166684		1509	2708	4217	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166684C>A	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.197G>T	6.37:g.30166684C>A	ENSP00000410446:p.Arg66Leu					TRIM26_uc003nps.2_Missense_Mutation_p.R66L|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.R66L|TRIM26_uc003npu.1_Missense_Mutation_p.R66L	p.R66L	NM_003449	NP_003440	Q12899	TRI26_HUMAN			3	406	-			66					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.197G>T	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576873	0.45902	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.59	4.71	0.59529	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.45126	D	0.000381	T	0.74635	0.3742	N	0.08118	0	0.19575	N	0.999963	D	0.76494	0.999	D	0.69307	0.963	T	0.69636	-0.5092	10	0.87932	D	0	.	7.5769	0.27942	0.0:0.824:0.0:0.176	.	66	Q12899	TRI26_HUMAN	L	66	ENSP00000391879:R66L;ENSP00000410446:R66L;ENSP00000395491:R66L;ENSP00000413673:R66L;ENSP00000387530:R66L;ENSP00000400920:R66L	ENSP00000413673:R66L	R	-	2	0	TRIM26	30274663	0.971000	0.33674	0.903000	0.35520	0.132000	0.20833	3.507000	0.53371	2.631000	0.89168	0.643000	0.83706	CGA		0.632	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		19	29	1	0	5.03518e-11	0.007413	7.86025e-11	19	29				
ATF6B	1388	broad.mit.edu	37	6	32087620	32087620	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:32087620G>A	ENST00000375203.3	-	9	979	c.947C>T	c.(946-948)tCc>tTc	p.S316F	ATF6B_ENST00000375201.4_Missense_Mutation_p.S313F	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	316					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGCGGGCAGGAGTTTCCAGG	0.577																																							uc003nzn.2		NA																	0					0						c.(946-948)TCC>TTC		activating transcription factor 6 beta isoform							105.0	90.0	95.0					6																	32087620		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32087620G>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.947C>T	6.37:g.32087620G>A	ENSP00000364349:p.Ser316Phe					TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.S313F|ATF6B_uc003nzp.1_Missense_Mutation_p.S5F	p.S316F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			9	980	-			316			Cytoplasmic (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.947C>T	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625362	0.46840	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.58060	0.36;1.1	5.0	5.0	0.66597	.	1.031440	0.07809	U	0.957890	T	0.23727	0.0574	N	0.24115	0.695	0.25041	N	0.991207	P;P	0.41569	0.755;0.694	B;B	0.44224	0.444;0.166	T	0.02774	-1.1112	10	0.09843	T	0.71	-8.005	11.0293	0.47763	0.0:0.0:0.8141:0.1858	.	313;316	Q99941-2;Q99941	.;ATF6B_HUMAN	F	316;313	ENSP00000364349:S316F;ENSP00000364347:S313F	ENSP00000364347:S313F	S	-	2	0	ATF6B	32195598	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	3.478000	0.53158	2.334000	0.79466	0.558000	0.71614	TCC		0.577	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			15	53	0	0	0	0.004007	0	15	53				
NOTCH4	4855	broad.mit.edu	37	6	32183075	32183075	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:32183075A>T	ENST00000375023.3	-	12	2087	c.1949T>A	c.(1948-1950)cTc>cAc	p.L650H	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	650	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCAGGACAGAGGCAGTTGGC	0.602																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(1948-1950)CTC>CAC		notch4 preproprotein							111.0	68.0	83.0					6																	32183075		1511	2709	4220	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32183075A>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1949T>A	6.37:g.32183075A>T	ENSP00000364163:p.Leu650His					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.L650H	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			12	2088	-			650			EGF-like 16.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1949T>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985212	0.35036	.	.	ENSG00000204301	ENST00000375023	T	0.68765	-0.35	4.53	3.36	0.38483	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.896444	0.09183	N	0.837197	T	0.65801	0.2726	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60831	-0.7185	10	0.45353	T	0.12	.	6.6049	0.22720	0.8909:0.0:0.1091:0.0	.	650	Q99466	NOTC4_HUMAN	H	650	ENSP00000364163:L650H	ENSP00000364163:L650H	L	-	2	0	NOTCH4	32291053	1.000000	0.71417	0.943000	0.38184	0.475000	0.33008	1.934000	0.40163	0.768000	0.33290	0.459000	0.35465	CTC		0.602	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	16	0	0	0	0.009096	0	4	16				
RING1	6015	broad.mit.edu	37	6	33179254	33179254	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:33179254G>T	ENST00000374656.4	+	5	983	c.775G>T	c.(775-777)Ggt>Tgt	p.G259C	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	259	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCCAGAGCCAGGTGGAGAAAT	0.677																																							uc003odk.2		NA																	0				ovary(1)|skin(1)	2						c.(775-777)GGT>TGT		ring finger protein 1							11.0	14.0	13.0					6																	33179254		1242	2533	3775	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179254G>T		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.775G>T	6.37:g.33179254G>T	ENSP00000363787:p.Gly259Cys					RING1_uc011dqx.1_Missense_Mutation_p.G259C|RING1_uc003odl.2_Missense_Mutation_p.G230C	p.G259C	NM_002931	NP_002922	Q06587	RING1_HUMAN			5	969	+			259			Gly-rich.|Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.775G>T	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135696	0.37728	.	.	ENSG00000204227	ENST00000374656	D	0.83837	-1.77	4.04	4.04	0.47022	.	0.077199	0.51477	D	0.000100	T	0.74366	0.3707	N	0.19112	0.55	0.40769	D	0.983073	D	0.69078	0.997	P	0.55545	0.778	T	0.77803	-0.2451	10	0.45353	T	0.12	-30.2252	13.7368	0.62821	0.0:0.0:1.0:0.0	.	259	Q06587	RING1_HUMAN	C	259	ENSP00000363787:G259C	ENSP00000363787:G259C	G	+	1	0	RING1	33287232	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.982000	0.49337	2.054000	0.61138	0.478000	0.44815	GGT		0.677	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			3	11	1	0	0.004672	0.004672	0.00503002	3	11				
C6orf106	64771	broad.mit.edu	37	6	34614553	34614553	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:34614553C>A	ENST00000374023.3	-	3	579	c.336G>T	c.(334-336)ggG>ggT	p.G112G	C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Silent_p.G38G	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	112										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TAAGACAAACCCCTGGAGGCC	0.468																																							uc003ojr.2		NA																	0				skin(2)|ovary(1)	3						c.(334-336)GGG>GGT		chromosome 6 open reading frame 106 isoform a							124.0	125.0	124.0					6																	34614553		2203	4300	6503	SO:0001819	synonymous_variant	64771							g.chr6:34614553C>A	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.336G>T	6.37:g.34614553C>A						C6orf106_uc003ojs.2_Intron	p.G112G	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN			3	581	-			112					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	ENST00000374023.3	37	c.336G>T	CCDS4796.1																																																																																				0.468	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		17	111	1	0	3.52763e-06	0.00499	4.5192e-06	17	111				
SCUBE3	222663	broad.mit.edu	37	6	35210811	35210811	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:35210811G>T	ENST00000274938.7	+	15	1707	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L	SCUBE3_ENST00000394681.1_Silent_p.L585L	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCTGTGGGCTGCCCTGCCTCC	0.622																																							uc003okf.1		NA																	0				skin(1)	1						c.(1705-1707)CTG>CTT		signal peptide, CUB domain, EGF-like 3							50.0	51.0	51.0					6																	35210811		2203	4297	6500	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35210811G>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1707G>T	6.37:g.35210811G>T						SCUBE3_uc003okg.1_Silent_p.L568L|SCUBE3_uc003okh.1_Silent_p.L456L	p.L569L	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			15	1713	+			569						Silent	SNP	ENST00000274938.7	37	c.1707G>T	CCDS4800.1																																																																																				0.622	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		10	56	1	0	6.40141e-05	0.010729	7.65288e-05	10	56				
BTBD9	114781	broad.mit.edu	37	6	38560523	38560523	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:38560523T>A	ENST00000481247.1	-	4	794	c.643A>T	c.(643-645)Aag>Tag	p.K215*	BTBD9_ENST00000419706.2_Nonsense_Mutation_p.K156*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.K147*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.K215*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.K147*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	215	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TGATTCTCCTTTGAATTGTGC	0.428																																							uc003ooa.3		NA																	0					0						c.(643-645)AAG>TAG		BTB (POZ) domain containing 9 isoform a							118.0	113.0	115.0					6																	38560523		1943	4142	6085	SO:0001587	stop_gained	114781				cell adhesion			g.chr6:38560523T>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.643A>T	6.37:g.38560523T>A	ENSP00000418751:p.Lys215*					BTBD9_uc003ony.3_Nonsense_Mutation_p.K147*|BTBD9_uc010jwv.2_Nonsense_Mutation_p.K147*|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Nonsense_Mutation_p.K215*	p.K215*	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN			5	1219	-			215			BACK.		Q494V9|Q494W1|Q96M00	Nonsense_Mutation	SNP	ENST00000481247.1	37	c.643A>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	T	41	8.652435	0.98901	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	.	.	.	5.51	5.51	0.81932	.	0.248126	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8993	0.79359	0.0:0.0:0.0:1.0	.	.	.	.	X	147;215;156;215;147	.	ENSP00000323408:K147X	K	-	1	0	BTBD9	38668501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.917000	0.56424	2.212000	0.71576	0.460000	0.39030	AAG		0.428	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		6	34	0	0	0	0.001168	0	6	34				
SLC29A1	2030	broad.mit.edu	37	6	44197352	44197352	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:44197352C>T	ENST00000393841.1	+	5	629	c.138C>T	c.(136-138)tcC>tcT	p.S46S	SLC29A1_ENST00000371740.5_Silent_p.S46S|SLC29A1_ENST00000371708.1_Silent_p.S46S|SLC29A1_ENST00000427851.2_Silent_p.S46S|SLC29A1_ENST00000371713.1_Silent_p.S46S|SLC29A1_ENST00000313248.7_Silent_p.S125S|SLC29A1_ENST00000371724.1_Silent_p.S46S|SLC29A1_ENST00000371755.3_Silent_p.S46S|SLC29A1_ENST00000371731.1_Silent_p.S46S|SLC29A1_ENST00000393844.1_Silent_p.S46S|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	46					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TGGACATGTCCCAGAATGTGT	0.567																																							uc003owu.1		NA																	0				large_intestine(2)|skin(1)	3						c.(136-138)TCC>TCT		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						100.0	97.0	98.0					6																	44197352		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197352C>T	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.138C>T	6.37:g.44197352C>T						SLC29A1_uc011dvp.1_Silent_p.S65S|SLC29A1_uc003owv.1_Silent_p.S46S|SLC29A1_uc003oww.1_Silent_p.S125S|SLC29A1_uc011dvq.1_Silent_p.S88S|SLC29A1_uc003owx.1_Silent_p.S46S|SLC29A1_uc003owy.1_Silent_p.S46S|SLC29A1_uc003owz.1_Silent_p.S46S	p.S46S	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	467	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		46			Extracellular (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.138C>T	CCDS4908.1																																																																																				0.567	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			7	51	0	0	0	0.001984	0	7	51				
PLA2G7	7941	broad.mit.edu	37	6	46672422	46672422	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:46672422C>G	ENST00000274793.7	-	12	1397	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D401H	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	401					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGATCAAAATCTTTATGAAGT	0.343																																							uc010jzf.2		NA																	0					0						c.(1201-1203)GAT>CAT		phospholipase A2, group VII							81.0	75.0	77.0					6																	46672422		2202	4298	6500	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46672422C>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1201G>C	6.37:g.46672422C>G	ENSP00000274793:p.Asp401His						p.D401H	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		12	1470	-			401					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.1201G>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727894	0.69074	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.57907	0.37;0.37	5.5	2.73	0.32206	.	0.227351	0.46145	D	0.000312	T	0.56834	0.2012	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.61068	-0.7137	10	0.56958	D	0.05	.	9.9173	0.41442	0.0:0.7783:0.0:0.2217	.	401	Q13093	PAFA_HUMAN	H	401	ENSP00000274793:D401H;ENSP00000445666:D401H	ENSP00000274793:D401H	D	-	1	0	PLA2G7	46780381	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.077000	0.41557	0.815000	0.34398	0.561000	0.74099	GAT		0.343	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			4	25	0	0	0	0.001168	0	4	25				
PLA2G7	7941	broad.mit.edu	37	6	46672424	46672424	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:46672424T>G	ENST00000274793.7	-	12	1395	c.1199A>C	c.(1198-1200)aAa>aCa	p.K400T	PLA2G7_ENST00000537365.1_Missense_Mutation_p.K400T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	400					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATCAAAATCTTTATGAAGTCC	0.338																																							uc010jzf.2		NA																	0					0						c.(1198-1200)AAA>ACA		phospholipase A2, group VII							78.0	72.0	74.0					6																	46672424		2202	4298	6500	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46672424T>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1199A>C	6.37:g.46672424T>G	ENSP00000274793:p.Lys400Thr						p.K400T	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		12	1468	-			400					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.1199A>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467012	0.63625	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.54479	0.57;0.57	5.5	4.19	0.49359	.	0.154258	0.56097	D	0.000023	T	0.52435	0.1734	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	T	0.51568	-0.8689	10	0.33940	T	0.23	.	8.6232	0.33872	0.0:0.1237:0.0:0.8763	.	400	Q13093	PAFA_HUMAN	T	400	ENSP00000274793:K400T;ENSP00000445666:K400T	ENSP00000274793:K400T	K	-	2	0	PLA2G7	46780383	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.952000	0.29149	2.226000	0.72624	0.459000	0.35465	AAA		0.338	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			4	25	0	0	0	0.001168	0	4	25				
GPR111	222611	broad.mit.edu	37	6	47649714	47649714	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:47649714C>A	ENST00000296862.1	+	6	1419	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	GPR111_ENST00000398742.2_Missense_Mutation_p.S405R|GPR111_ENST00000507065.1_Missense_Mutation_p.S405R			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	473					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TAGTCTGGAGCCAAGTGACAA	0.453																																							uc010jzj.1		NA																	0				skin(1)	1						c.(1417-1419)AGC>AGA		G-protein coupled receptor 111							132.0	121.0	125.0					6																	47649714		2007	4193	6200	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649714C>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1419C>A	6.37:g.47649714C>A	ENSP00000296862:p.Ser473Arg					GPR111_uc010jzk.1_Missense_Mutation_p.S405R|GPR111_uc003oyy.2_RNA	p.S473R	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1420	+			473			Cytoplasmic (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1419C>A		.	.	.	.	.	.	.	.	.	.	C	0.010	-1.750592	0.00669	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.35973	2.08;2.07;1.28	5.52	3.57	0.40892	GPCR, family 2-like (1);	0.630000	0.16313	N	0.219906	T	0.03695	0.0105	N	0.04090	-0.28	0.09310	N	1	B;B	0.19445	0.002;0.036	B;B	0.22152	0.009;0.038	T	0.44360	-0.9333	10	0.02654	T	1	.	5.1763	0.15137	0.0:0.5601:0.1474:0.2924	.	405;473	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	R	405;473;405	ENSP00000422934:S405R;ENSP00000296862:S473R;ENSP00000381727:S405R	ENSP00000296862:S473R	S	+	3	2	GPR111	47757673	0.000000	0.05858	0.805000	0.32314	0.005000	0.04900	-1.265000	0.02844	1.157000	0.42530	0.655000	0.94253	AGC		0.453	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		25	50	1	0	1.1804e-14	0.003954	2.04554e-14	25	50				
PTCHD4	442213	broad.mit.edu	37	6	47847003	47847003	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:47847003G>A	ENST00000339488.4	-	3	1610	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	526						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GTACTCTAGGGGCTCATAGAC	0.473																																							uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(1525-1527)CCC>CTC		hypothetical protein LOC442213							57.0	50.0	52.0					6																	47847003		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847003G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1577C>T	6.37:g.47847003G>A	ENSP00000341914:p.Pro526Leu					C6orf138_uc011dwn.1_Missense_Mutation_p.P273L	p.P509L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1611	-			526					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1526C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436332	0.62955	.	.	ENSG00000244694	ENST00000339488	D	0.89196	-2.48	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	D	0.69654	0.965	D	0.91790	0.5443	10	0.51188	T	0.08	.	19.3362	0.94320	0.0:0.0:1.0:0.0	.	526	Q6ZW05	CF138_HUMAN	L	526	ENSP00000341914:P526L	ENSP00000341914:P526L	P	-	2	0	C6orf138	47954962	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.476000	0.97823	2.592000	0.87571	0.650000	0.86243	CCC		0.473	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		7	9	0	0	0	0.001984	0	7	9				
DEFB113	245927	broad.mit.edu	37	6	49936501	49936501	+	Silent	SNP	G	G	A	rs371006158		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:49936501G>A	ENST00000398718.1	-	2	137	c.138C>T	c.(136-138)tgC>tgT	p.C46C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	46					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CCCAGCTGTTGCATTCCGGCT	0.403																																							uc011dwq.1		NA																	0					0						c.(136-138)TGC>TGT		beta-defensin 113 precursor		G		0,3760		0,0,1880	100.0	96.0	97.0		138	1.3	0.0	6		97	1,8203		0,1,4101	no	coding-synonymous	DEFB113	NM_001037729.1		0,1,5981	AA,AG,GG		0.0122,0.0,0.0084		46/83	49936501	1,11963	1880	4102	5982	SO:0001819	synonymous_variant	245927				defense response to bacterium	extracellular region		g.chr6:49936501G>A	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.138C>T	6.37:g.49936501G>A							p.C46C	NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN			2	138	-	Lung NSC(77;0.042)		46						Silent	SNP	ENST00000398718.1	37	c.138C>T	CCDS43472.1																																																																																				0.403	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1			4	18	0	0	0	0.009096	0	4	18				
DEFB110	245913	broad.mit.edu	37	6	49986759	49986759	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:49986759C>A	ENST00000371148.2	-	2	180	c.135G>T	c.(133-135)caG>caT	p.Q45H	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	45					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTTCATGACACTGATTTTTAC	0.403																																							uc003pac.2		NA																	0				ovary(1)	1						c.(133-135)CAG>CAT		beta-defensin 110 isoform a							177.0	153.0	161.0					6																	49986759		2203	4300	6503	SO:0001583	missense	245913				defense response to bacterium	extracellular region		g.chr6:49986759C>A	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.135G>T	6.37:g.49986759C>A	ENSP00000360190:p.Gln45His					DEFB110_uc011dwr.1_Intron	p.Q45H	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN			2	181	-	Lung NSC(77;0.042)		45					Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	37	c.135G>T	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	C	1.563	-0.536286	0.04082	.	.	ENSG00000203970	ENST00000371148	T	0.10860	2.83	4.77	0.881	0.19166	.	0.965604	0.08510	N	0.935023	T	0.02119	0.0066	.	.	.	0.20975	N	0.999817	P	0.36753	0.568	B	0.37451	0.25	T	0.45848	-0.9233	8	.	.	.	1.1946	3.2615	0.06850	0.2016:0.4981:0.0:0.3003	.	45	Q30KQ9	DB110_HUMAN	H	45	ENSP00000360190:Q45H	.	Q	-	3	2	DEFB110	50094718	0.019000	0.18553	0.124000	0.21820	0.153000	0.21895	-0.076000	0.11412	-0.030000	0.13804	0.655000	0.94253	CAG		0.403	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		27	41	1	0	4.7796e-09	0.004656	7.01669e-09	27	41				
TFAP2B	7021	broad.mit.edu	37	6	50807921	50807921	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:50807921T>G	ENST00000393655.3	+	6	1162	c.993T>G	c.(991-993)ttT>ttG	p.F331L	TFAP2B_ENST00000263046.4_Missense_Mutation_p.F340L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	331					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|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)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAACGGAGTTTCCCGCCAAAG	0.478																																					Pancreas(116;1373 2332 5475 10752)	Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(991-993)TTT>TTG		transcription factor AP-2 beta							119.0	128.0	125.0					6																	50807921		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807921T>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.993T>G	6.37:g.50807921T>G	ENSP00000377265:p.Phe331Leu						p.F331L	NM_003221	NP_003212	Q92481	AP2B_HUMAN			6	1159	+	Lung NSC(77;0.156)		331					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.993T>G	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202041	0.79127	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97279	-4.32;-4.32	5.67	3.16	0.36331	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	M	0.84773	2.715	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.96531	0.9393	10	0.51188	T	0.08	-11.6441	8.6524	0.34042	0.0:0.3022:0.0:0.6978	.	331	Q92481	AP2B_HUMAN	L	331;340	ENSP00000377265:F331L;ENSP00000263046:F340L	ENSP00000263046:F340L	F	+	3	2	TFAP2B	50915880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.908000	0.28545	0.381000	0.24851	0.533000	0.62120	TTT		0.478	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		31	122	0	0	0	0.009535	0	31	122				
PKHD1	5314	broad.mit.edu	37	6	51524559	51524559	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:51524559T>A	ENST00000371117.3	-	61	10640	c.10365A>T	c.(10363-10365)tcA>tcT	p.S3455S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3455					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGTAGACACTGACCCAGAAG	0.403																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10363-10365)TCA>TCT		fibrocystin isoform 1							102.0	100.0	101.0					6																	51524559		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524559T>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10365A>T	6.37:g.51524559T>A							p.S3455S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	10641	-	Lung NSC(77;0.0605)		3455			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10365A>T	CCDS4935.1																																																																																				0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	42	0	0	0	0.001168	0	6	42				
IL17A	3605	broad.mit.edu	37	6	52052579	52052579	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:52052579G>T	ENST00000340057.1	+	2	251	c.206G>T	c.(205-207)cGa>cTa	p.R69L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	69					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TACTACAACCGATCCACCTCA	0.448																																							uc003pak.1		NA																	0					0						c.(205-207)CGA>CTA		interleukin 17A precursor							138.0	124.0	129.0					6																	52052579		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52052579G>T	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.206G>T	6.37:g.52052579G>T	ENSP00000344192:p.Arg69Leu						p.R69L	NM_002190	NP_002181	Q16552	IL17_HUMAN			2	251	+	Lung NSC(77;0.116)		69					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.206G>T	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	36	5.847357	0.97023	.	.	ENSG00000112115	ENST00000340057	T	0.64085	-0.08	5.57	5.57	0.84162	.	0.153094	0.45126	D	0.000390	T	0.77212	0.4097	M	0.81179	2.53	0.49915	D	0.999833	D	0.89917	1.0	D	0.91635	0.999	T	0.80118	-0.1516	10	0.87932	D	0	-16.0893	16.6938	0.85329	0.0:0.0:1.0:0.0	.	69	Q16552	IL17_HUMAN	L	69	ENSP00000344192:R69L	ENSP00000344192:R69L	R	+	2	0	IL17A	52160538	0.987000	0.35691	0.558000	0.28319	0.972000	0.66771	5.956000	0.70315	2.623000	0.88846	0.555000	0.69702	CGA		0.448	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		19	88	1	0	4.63292e-17	0.008871	8.2644e-17	19	88				
GSTA1	2938	broad.mit.edu	37	6	52657700	52657700	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:52657700A>C	ENST00000334575.5	-	6	655	c.500T>G	c.(499-501)gTc>gGc	p.V167G	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	167	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	AAGCTCCTCGACGTAGTAGAG	0.532																																							uc003paz.2		NA																	0				ovary(1)	1						c.(499-501)GTC>GGC		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						171.0	154.0	160.0					6																	52657700		2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52657700A>C		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.500T>G	6.37:g.52657700A>C	ENSP00000335620:p.Val167Gly						p.V167G	NM_145740	NP_665683	P08263	GSTA1_HUMAN			6	612	-	Lung NSC(77;0.118)		167			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.500T>G	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	11.26	1.587597	0.28268	.	.	ENSG00000243955	ENST00000334575	T	0.02280	4.36	2.43	1.2	0.21068	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.482604	0.20383	N	0.093409	T	0.05547	0.0146	M	0.90814	3.15	0.09310	N	0.999997	D	0.61697	0.99	D	0.76071	0.987	T	0.11470	-1.0586	10	0.87932	D	0	.	5.9319	0.19144	0.6437:0.0:0.3563:0.0	.	167	P08263	GSTA1_HUMAN	G	167	ENSP00000335620:V167G	ENSP00000335620:V167G	V	-	2	0	GSTA1	52765659	0.000000	0.05858	0.009000	0.14445	0.082000	0.17680	1.013000	0.29937	0.025000	0.15241	0.164000	0.16699	GTC		0.532	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			5	130	0	0	0	0.006214	0	5	130				
GSTA1	2938	broad.mit.edu	37	6	52657702	52657702	+	Nonsense_Mutation	SNP	G	G	C	rs377120723		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:52657702G>C	ENST00000334575.5	-	6	653	c.498C>G	c.(496-498)taC>taG	p.Y166*	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	166	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GCTCCTCGACGTAGTAGAGAA	0.527																																							uc003paz.2		NA																	0				ovary(1)	1						c.(496-498)TAC>TAG		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						173.0	156.0	162.0					6																	52657702		2203	4300	6503	SO:0001587	stop_gained	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52657702G>C		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.498C>G	6.37:g.52657702G>C	ENSP00000335620:p.Tyr166*						p.Y166*	NM_145740	NP_665683	P08263	GSTA1_HUMAN			6	610	-	Lung NSC(77;0.118)		166			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Nonsense_Mutation	SNP	ENST00000334575.5	37	c.498C>G	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	13.72	2.321928	0.41096	.	.	ENSG00000243955	ENST00000334575	.	.	.	2.43	-4.55	0.03441	.	0.481309	0.23058	N	0.052403	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6599	0.17662	0.4805:0.3063:0.2132:0.0	.	.	.	.	X	166	.	ENSP00000335620:Y166X	Y	-	3	2	GSTA1	52765661	0.000000	0.05858	0.008000	0.14137	0.112000	0.19704	-2.383000	0.01063	-0.527000	0.06374	0.195000	0.17529	TAC		0.527	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			22	102	0	0	0	0.012319	0	22	102				
GSTA1	2938	broad.mit.edu	37	6	52657705	52657705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:52657705G>T	ENST00000334575.5	-	6	650	c.495C>A	c.(493-495)taC>taA	p.Y165*	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	165	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	CCTCGACGTAGTAGAGAAGTT	0.527																																							uc003paz.2		NA																	0				ovary(1)	1						c.(493-495)TAC>TAA		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						176.0	158.0	164.0					6																	52657705		2203	4300	6503	SO:0001587	stop_gained	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52657705G>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.495C>A	6.37:g.52657705G>T	ENSP00000335620:p.Tyr165*						p.Y165*	NM_145740	NP_665683	P08263	GSTA1_HUMAN			6	607	-	Lung NSC(77;0.118)		165			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Nonsense_Mutation	SNP	ENST00000334575.5	37	c.495C>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	15.55	2.867512	0.51588	.	.	ENSG00000243955	ENST00000334575	.	.	.	2.43	1.06	0.20224	.	0.167298	0.42053	D	0.000773	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	4.3295	0.11057	0.0:0.163:0.3169:0.5201	.	.	.	.	X	165	.	ENSP00000335620:Y165X	Y	-	3	2	GSTA1	52765664	0.218000	0.23608	0.219000	0.23793	0.147000	0.21601	0.325000	0.19628	1.043000	0.40175	0.195000	0.17529	TAC		0.527	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			5	124	1	0	0.000442599	0.006214	0.000502282	5	124				
ICK	22858	broad.mit.edu	37	6	52871145	52871145	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:52871145A>G	ENST00000350082.5	-	13	2058	c.1712T>C	c.(1711-1713)gTa>gCa	p.V571A	ICK_ENST00000356971.3_Missense_Mutation_p.V571A	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	571					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGCTAGGTGTACCCTCTGCAT	0.413																																							uc003pbh.2		NA																	0				ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(1711-1713)GTA>GCA		intestinal cell kinase							129.0	127.0	128.0					6																	52871145		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52871145A>G	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1712T>C	6.37:g.52871145A>G	ENSP00000263043:p.Val571Ala					ICK_uc003pbi.2_Missense_Mutation_p.V571A	p.V571A	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			14	2202	-	Lung NSC(77;0.103)		571					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.1712T>C	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318328	0.81469	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72942	-0.7;-0.7	5.75	5.75	0.90469	.	0.260739	0.31697	N	0.007213	T	0.68622	0.3021	L	0.57536	1.79	0.44295	D	0.997166	P	0.50443	0.935	P	0.49799	0.622	T	0.74500	-0.3645	10	0.87932	D	0	-16.2154	16.0663	0.80878	1.0:0.0:0.0:0.0	.	571	Q9UPZ9	ICK_HUMAN	A	571	ENSP00000263043:V571A;ENSP00000349458:V571A	ENSP00000263043:V571A	V	-	2	0	ICK	52979104	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	7.688000	0.84153	2.201000	0.70794	0.533000	0.62120	GTA		0.413	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		4	56	0	0	0	0.009096	0	4	56				
GFRAL	389400	broad.mit.edu	37	6	55198732	55198732	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:55198732C>G	ENST00000340465.2	+	3	392	c.306C>G	c.(304-306)atC>atG	p.I102M		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	102					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAAATGTATCAATAAATCAG	0.284																																							uc003pcm.1		NA																	0				ovary(1)|breast(1)	2						c.(304-306)ATC>ATG		GDNF family receptor alpha like precursor							83.0	88.0	86.0					6																	55198732		2203	4299	6502	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55198732C>G	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.306C>G	6.37:g.55198732C>G	ENSP00000343636:p.Ile102Met						p.I102M	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	392	+	Lung NSC(77;0.0875)|Renal(3;0.122)		102			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.306C>G	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	4.303	0.055423	0.08291	.	.	ENSG00000187871	ENST00000340465	T	0.30714	1.52	5.13	4.25	0.50352	.	0.925114	0.09145	N	0.842345	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	0.999999	B	0.10296	0.003	B	0.10450	0.005	T	0.36212	-0.9757	10	0.40728	T	0.16	-18.8515	11.5926	0.50953	0.0:0.8198:0.1802:0.0	.	102	Q6UXV0	GFRAL_HUMAN	M	102	ENSP00000343636:I102M	ENSP00000343636:I102M	I	+	3	3	GFRAL	55306691	0.681000	0.27614	0.126000	0.21872	0.219000	0.24729	1.291000	0.33330	1.113000	0.41760	0.655000	0.94253	ATC		0.284	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		21	71	0	0	0	0.002299	0	21	71				
LGSN	51557	broad.mit.edu	37	6	63990329	63990329	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:63990329A>T	ENST00000370657.4	-	4	1160	c.1127T>A	c.(1126-1128)cTg>cAg	p.L376Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	376					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTCTTCTTCAGGTCTTTCCT	0.458																																							uc003peh.2		NA																	0				skin(2)	2						c.(1126-1128)CTG>CAG		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						170.0	168.0	169.0					6																	63990329		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990329A>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1127T>A	6.37:g.63990329A>T	ENSP00000359691:p.Leu376Gln					LGSN_uc003pei.2_3'UTR	p.L376Q	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1161	-			376					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1127T>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	7.773	0.707777	0.15239	.	.	ENSG00000146166	ENST00000370657	D	0.86164	-2.08	5.77	-3.47	0.04753	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.479035	0.24915	N	0.034582	T	0.60444	0.2269	L	0.36672	1.1	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.47649	-0.9101	10	0.87932	D	0	0.0139	0.8977	0.01267	0.2883:0.1217:0.3196:0.2703	.	376	Q5TDP6	LGSN_HUMAN	Q	376	ENSP00000359691:L376Q	ENSP00000359691:L376Q	L	-	2	0	LGSN	64048288	0.952000	0.32445	0.867000	0.34043	0.015000	0.08874	0.713000	0.25794	-0.447000	0.07138	0.533000	0.62120	CTG		0.458	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		21	63	0	0	0	0.012319	0	21	63				
BAI3	577	broad.mit.edu	37	6	70064178	70064178	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:70064178A>G	ENST00000370598.1	+	27	4334	c.3513A>G	c.(3511-3513)gcA>gcG	p.A1171A	BAI3_ENST00000546190.1_Silent_p.A135A|BAI3_ENST00000238918.8_Silent_p.A377A	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1171					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCATCAATGCAGATTCTTCGA	0.388																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3511-3513)GCA>GCG		brain-specific angiogenesis inhibitor 3							187.0	171.0	176.0					6																	70064178		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70064178A>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3513A>G	6.37:g.70064178A>G						BAI3_uc010kak.2_Silent_p.A1171A|BAI3_uc011dxx.1_Silent_p.A377A	p.A1171A	NM_001704	NP_001695	O60242	BAI3_HUMAN			27	3961	+		all_lung(197;0.212)	1171			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3513A>G	CCDS4968.1																																																																																				0.388	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			15	61	0	0	0	0.007413	0	15	61				
COL19A1	1310	broad.mit.edu	37	6	70890247	70890247	+	Splice_Site	SNP	C	C	A	rs374578383		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:70890247C>A	ENST00000322773.4	+	43	2813	c.2711C>A	c.(2710-2712)cCg>cAg	p.P904Q	COL19A1_ENST00000393344.1_Splice_Site_p.P526Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	904	Collagen-like 10.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAGGGGAACCGGTGAGTTGG	0.448																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(2710-2712)CCG>CAG		alpha 1 type XIX collagen precursor							155.0	179.0	171.0					6																	70890247		2203	4300	6503	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70890247C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2712+1C>A	6.37:g.70890247C>A							p.P904Q	NM_001858	NP_001849	Q14993	COJA1_HUMAN			43	2828	+			904			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2711C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951814	0.34471	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.96716	-4.1;-4.1	5.54	3.75	0.43078	.	0.294938	0.30762	N	0.008934	D	0.88973	0.6583	L	0.46614	1.455	0.33448	D	0.583306	B	0.30068	0.267	B	0.30029	0.11	T	0.82165	-0.0592	10	0.32370	T	0.25	.	9.4321	0.38617	0.1418:0.7849:0.0:0.0734	.	904	Q14993	COJA1_HUMAN	Q	904;526	ENSP00000316030:P904Q;ENSP00000377013:P526Q	ENSP00000316030:P904Q	P	+	2	0	COL19A1	70946968	1.000000	0.71417	0.409000	0.26459	0.457000	0.32468	4.424000	0.59868	0.680000	0.31366	0.585000	0.79938	CCG		0.448	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Missense_Mutation	21	25	1	0	1.28384e-07	0.012319	1.7601e-07	21	25				
COL9A1	1297	broad.mit.edu	37	6	71004241	71004241	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:71004241C>T	ENST00000357250.6	-	5	483	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	COL9A1_ENST00000370496.3_Missense_Mutation_p.E109K	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	109	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAGTATTCTTCAGGCAGTCCA	0.393																																							uc003pfg.3		NA																	0				ovary(4)	4						c.(325-327)GAA>AAA		alpha 1 type IX collagen isoform 1 precursor							104.0	110.0	108.0					6																	71004241		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004241C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.325G>A	6.37:g.71004241C>T	ENSP00000349790:p.Glu109Lys						p.E109K	NM_001851	NP_001842	P20849	CO9A1_HUMAN			5	484	-			109			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.325G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510916	0.96386	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02258	4.37;4.37	5.44	5.44	0.79542	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.063428	0.64402	D	0.000012	T	0.03520	0.0101	M	0.69463	2.115	0.80722	D	1	P	0.51537	0.946	P	0.45946	0.498	T	0.46624	-0.9178	10	0.66056	D	0.02	.	19.6327	0.95717	0.0:1.0:0.0:0.0	.	109	P20849	CO9A1_HUMAN	K	109	ENSP00000349790:E109K;ENSP00000359527:E109K	ENSP00000349790:E109K	E	-	1	0	COL9A1	71060962	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.468000	0.60162	2.701000	0.92244	0.650000	0.86243	GAA		0.393	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			18	59	0	0	0	0.007413	0	18	59				
COL9A1	1297	broad.mit.edu	37	6	71009794	71009794	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:71009794T>A	ENST00000357250.6	-	4	409	c.251A>T	c.(250-252)cAg>cTg	p.Q84L	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q84L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	84	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTAAGCCACCTGCAATGTAGC	0.363																																							uc003pfg.3		NA																	0				ovary(4)	4						c.(250-252)CAG>CTG		alpha 1 type IX collagen isoform 1 precursor							86.0	85.0	86.0					6																	71009794		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71009794T>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.251A>T	6.37:g.71009794T>A	ENSP00000349790:p.Gln84Leu						p.Q84L	NM_001851	NP_001842	P20849	CO9A1_HUMAN			4	410	-			84			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.251A>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281424	0.59758	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.22134	4.51;1.97	5.66	5.66	0.87406	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.153192	0.44902	D	0.000420	T	0.23766	0.0575	M	0.76574	2.34	0.80722	D	1	D	0.60575	0.988	P	0.46825	0.528	T	0.07309	-1.0779	10	0.72032	D	0.01	.	16.1988	0.82053	0.0:0.0:0.0:1.0	.	84	P20849	CO9A1_HUMAN	L	84	ENSP00000349790:Q84L;ENSP00000359527:Q84L	ENSP00000349790:Q84L	Q	-	2	0	COL9A1	71066515	1.000000	0.71417	0.996000	0.52242	0.172000	0.22775	7.137000	0.77295	2.284000	0.76573	0.528000	0.53228	CAG		0.363	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			11	33	0	0	0	0.010729	0	11	33				
SMAP1	60682	broad.mit.edu	37	6	71566579	71566579	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:71566579A>G	ENST00000370455.3	+	9	1055	c.807A>G	c.(805-807)ccA>ccG	p.P269P	SMAP1_ENST00000370452.3_Silent_p.P242P|SMAP1_ENST00000316999.5_Silent_p.P242P|B3GAT2_ENST00000230053.6_3'UTR	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	269					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTCTGCACCAGCAGCTGCAA	0.393																																							uc003pfr.2		NA																	0					0						c.(805-807)CCA>CCG		stromal membrane-associated GTPase-activating							71.0	72.0	72.0					6																	71566579		2203	4300	6503	SO:0001819	synonymous_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71566579A>G	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.807A>G	6.37:g.71566579A>G						SMAP1_uc003pfs.2_Silent_p.P242P|SMAP1_uc010kao.2_Silent_p.P242P|SMAP1_uc010kap.2_Silent_p.P259P	p.P269P	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			9	1055	+			269					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	37	c.807A>G	CCDS43478.1																																																																																				0.393	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		7	27	0	0	0	0.004482	0	7	27				
B3GAT2	135152	broad.mit.edu	37	6	71603926	71603926	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:71603926C>A	ENST00000230053.6	-	2	1249	c.641G>T	c.(640-642)gGg>gTg	p.G214V		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GTAGCGCCGCCCACCAACCAG	0.547																																							uc003pfv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(640-642)GGG>GTG		beta-1,3-glucuronyltransferase 2							81.0	75.0	77.0					6																	71603926		2203	4300	6503	SO:0001583	missense	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71603926C>A	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.641G>T	6.37:g.71603926C>A	ENSP00000230053:p.Gly214Val					B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.G214V	p.G214V	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			2	1297	-			214			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	c.641G>T	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075118	0.94000	.	.	ENSG00000112309	ENST00000230053	T	0.51071	0.72	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78331	-0.2245	10	0.72032	D	0.01	-0.0551	20.6452	0.99591	0.0:1.0:0.0:0.0	.	142;214	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	V	214	ENSP00000230053:G214V	ENSP00000230053:G214V	G	-	2	0	B3GAT2	71660647	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.818000	0.86416	2.885000	0.99019	0.650000	0.86243	GGG		0.547	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		33	44	1	0	4.4194e-11	0.002836	6.92441e-11	33	44				
MB21D1	115004	broad.mit.edu	37	6	74150094	74150094	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:74150094C>A	ENST00000370315.3	-	3	1046	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L	MB21D1_ENST00000370318.1_Missense_Mutation_p.V318L	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	318					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GTTATATCCACAGATATTTTT	0.413																																							uc003pgx.1		NA																	0					0						c.(952-954)GTG>TTG		hypothetical protein LOC115004							101.0	99.0	100.0					6																	74150094		2203	4300	6503	SO:0001583	missense	115004							g.chr6:74150094C>A	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.952G>T	6.37:g.74150094C>A	ENSP00000359339:p.Val318Leu						p.V318L	NM_138441	NP_612450	Q8N884	M21D1_HUMAN			3	1091	-			318					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	c.952G>T	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104886	0.56291	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.11169	2.8;2.8	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000007	T	0.14013	0.0339	M	0.81682	2.555	0.37547	D	0.918553	P	0.44986	0.847	P	0.45829	0.494	T	0.01961	-1.1239	10	0.41790	T	0.15	-24.6585	16.6648	0.85249	0.0:1.0:0.0:0.0	.	318	Q8N884	M21D1_HUMAN	L	318	ENSP00000359342:V318L;ENSP00000359339:V318L	ENSP00000296913:V318L	V	-	1	0	MB21D1	74206815	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	2.846000	0.48262	2.480000	0.83734	0.455000	0.32223	GTG		0.413	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		20	19	1	0	5.03518e-11	0.007413	7.86025e-11	20	19				
COL12A1	1303	broad.mit.edu	37	6	75865471	75865471	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:75865471T>A	ENST00000322507.8	-	16	3659	c.3350A>T	c.(3349-3351)tAt>tTt	p.Y1117F	COL12A1_ENST00000483888.2_Missense_Mutation_p.Y1117F|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y1117F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1117	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTGACTTTATAACCCTTCAC	0.498																																							uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(3349-3351)TAT>TTT		collagen, type XII, alpha 1 long isoform							121.0	119.0	119.0					6																	75865471		1849	4088	5937	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75865471T>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3350A>T	6.37:g.75865471T>A	ENSP00000325146:p.Tyr1117Phe					COL12A1_uc003pht.2_Intron	p.Y1117F	NM_004370	NP_004361	Q99715	COCA1_HUMAN			16	3516	-			1117			Fibronectin type-III 8.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.3350A>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	31	5.060587	0.93846	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.79845	-1.31;-1.31;-1.31	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	D	0.87071	0.6086	M	0.71871	2.18	0.53005	D	0.999963	D	0.89917	1.0	D	0.79784	0.993	D	0.88773	0.3265	10	0.87932	D	0	.	16.1988	0.82053	0.0:0.0:0.0:1.0	.	1117	Q99715	COCA1_HUMAN	F	1117	ENSP00000325146:Y1117F;ENSP00000412864:Y1117F;ENSP00000421216:Y1117F	ENSP00000325146:Y1117F	Y	-	2	0	COL12A1	75922191	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.655000	0.83696	2.284000	0.76573	0.528000	0.53228	TAT		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		22	83	0	0	0	0.00278	0	22	83				
IBTK	25998	broad.mit.edu	37	6	82910357	82910357	+	Silent	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:82910357T>G	ENST00000306270.7	-	20	3408	c.2859A>C	c.(2857-2859)gtA>gtC	p.V953V	IBTK_ENST00000503631.1_Silent_p.V752V|IBTK_ENST00000510291.1_Silent_p.V953V	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	953					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTCCATCTTCTACTTCCAAAT	0.318																																							uc003pjl.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2857-2859)GTA>GTC		inhibitor of Bruton's tyrosine kinase							63.0	62.0	62.0					6																	82910357		2202	4300	6502	SO:0001819	synonymous_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82910357T>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2859A>C	6.37:g.82910357T>G						IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Silent_p.V953V|IBTK_uc011dyw.1_Silent_p.V752V|IBTK_uc010kbi.1_Silent_p.V647V|IBTK_uc003pjm.2_Silent_p.V953V	p.V953V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	20	3386	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	953					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	c.2859A>C	CCDS34490.1																																																																																				0.318	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		5	19	0	0	0	0.000602	0	5	19				
CYB5R4	51167	broad.mit.edu	37	6	84634200	84634200	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:84634200G>C	ENST00000369681.5	+	10	843	c.703G>C	c.(703-705)Gag>Cag	p.E235Q		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	235	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GCGGGTTGTTGAGAGTGTGGG	0.328																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.2		NA																	0				breast(2)	2						c.(703-705)GAG>CAG		cytochrome b5 reductase 4							82.0	85.0	84.0					6																	84634200		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84634200G>C	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.703G>C	6.37:g.84634200G>C	ENSP00000358695:p.Glu235Gln						p.E235Q	NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	10	835	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	235			CS.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.703G>C	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585588	0.46110	.	.	ENSG00000065615	ENST00000369681	T	0.16597	2.33	6.05	6.05	0.98169	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.403782	0.30869	N	0.008706	T	0.17619	0.0423	M	0.68317	2.08	0.80722	D	1	B	0.27416	0.178	B	0.37480	0.251	T	0.02320	-1.1177	10	0.29301	T	0.29	.	19.1651	0.93553	0.0:0.0:1.0:0.0	.	235	Q7L1T6	NB5R4_HUMAN	Q	235	ENSP00000358695:E235Q	ENSP00000358695:E235Q	E	+	1	0	CYB5R4	84690919	1.000000	0.71417	0.986000	0.45419	0.240000	0.25518	5.670000	0.68088	2.878000	0.98634	0.650000	0.86243	GAG		0.328	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		9	34	0	0	0	0.006214	0	9	34				
SMIM8	57150	broad.mit.edu	37	6	88049924	88049924	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:88049924G>T	ENST00000392863.1	+	4	315	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	SMIM8_ENST00000608868.1_Missense_Mutation_p.D76Y|SMIM8_ENST00000608353.1_Missense_Mutation_p.D76Y|SMIM8_ENST00000608525.1_Intron|RP1-102H19.8_ENST00000448282.2_Intron|SMIM8_ENST00000229570.5_Missense_Mutation_p.D76Y	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	76						integral component of membrane (GO:0016021)											GAATAAAAAGGACCTCTATGA	0.393																																							uc003plp.1		NA																	0					0						c.(226-228)GAC>TAC		hypothetical protein LOC57150							127.0	127.0	127.0					6																	88049924		2203	4300	6503	SO:0001583	missense	57150					integral to membrane		g.chr6:88049924G>T	AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 162"""	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.226G>T	6.37:g.88049924G>T	ENSP00000376603:p.Asp76Tyr					C6orf164_uc003plr.2_Intron|C6orf162_uc003plq.1_Missense_Mutation_p.D76Y	p.D76Y	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0164)	4	315	+		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)	76					B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	37	c.226G>T	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186441	0.57909	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.45	4.54	0.55810	.	0.251092	0.47852	D	0.000213	T	0.52581	0.1743	.	.	.	0.47905	D	0.999543	P	0.44260	0.83	P	0.49012	0.598	T	0.58797	-0.7573	8	0.56958	D	0.05	-2.1887	13.0929	0.59176	0.082:0.0:0.918:0.0	.	76	Q96KF7	CF162_HUMAN	Y	76	.	ENSP00000229570:D76Y	D	+	1	0	C6orf162	88106643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.781000	0.47750	1.351000	0.45789	0.655000	0.94253	GAC		0.393	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425		12	22	1	0	1.61879e-10	0.001368	2.4927e-10	12	22				
PM20D2	135293	broad.mit.edu	37	6	89859008	89859008	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:89859008G>A	ENST00000275072.4	+	2	585	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	164						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AACCCCTGCAGAAGAAGATGG	0.403																																							uc003pmz.2		NA																	0					0						c.(490-492)GAA>AAA		aminoacylase 1-like 2							143.0	146.0	145.0					6																	89859008		2203	4300	6503	SO:0001583	missense	135293						hydrolase activity	g.chr6:89859008G>A	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.490G>A	6.37:g.89859008G>A	ENSP00000275072:p.Glu164Lys						p.E164K	NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	2	585	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	164					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.490G>A	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	G	34	5.383805	0.95967	.	.	ENSG00000146281	ENST00000275072	D	0.98550	-4.99	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.97659	4.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98446	1.0589	10	0.87932	D	0	-16.3987	19.7375	0.96212	0.0:0.0:1.0:0.0	.	164	Q8IYS1	P20D2_HUMAN	K	164	ENSP00000275072:E164K	ENSP00000275072:E164K	E	+	1	0	PM20D2	89915727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.615000	0.90920	2.828000	0.97474	0.655000	0.94253	GAA		0.403	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		23	67	0	0	0	0.012319	0	23	67				
GABRR2	2570	broad.mit.edu	37	6	89977760	89977760	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:89977760G>T	ENST00000402938.3	-	5	701	c.568C>A	c.(568-570)Cag>Aag	p.Q190K	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Missense_Mutation_p.Q215K	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	190					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GAACAGGTCTGGGAGTCCAGG	0.453																																							uc003pnb.2		NA																	0					0						c.(643-645)CAG>AAG		gamma-aminobutyric acid (GABA) receptor, rho 2							107.0	91.0	97.0					6																	89977760		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89977760G>T		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.568C>A	6.37:g.89977760G>T	ENSP00000386029:p.Gln190Lys					GABRR2_uc011dzx.1_Missense_Mutation_p.Q91K	p.Q215K	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	5	651	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	215			Extracellular (Probable).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.643C>A	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	34	5.377797	0.95945	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	H	0.95982	3.75	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91563	0.5266	8	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	215	P28476	GBRR2_HUMAN	K	215	.	.	Q	-	1	0	GABRR2	90034479	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.776000	0.99001	2.808000	0.96608	0.655000	0.94253	CAG		0.453	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			3	8	1	0	0.004672	0.004672	0.00503002	3	8				
RRAGD	58528	broad.mit.edu	37	6	90089038	90089038	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:90089038A>T	ENST00000369415.4	-	4	940	c.664T>A	c.(664-666)Tat>Aat	p.Y222N	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Missense_Mutation_p.Y71N	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GAATGATCATATATGCTTGTC	0.373																																							uc003pnd.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(664-666)TAT>AAT		Ras-related GTP binding D							73.0	75.0	75.0					6																	90089038		2203	4300	6503	SO:0001583	missense	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90089038A>T	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.664T>A	6.37:g.90089038A>T	ENSP00000358423:p.Tyr222Asn					RRAGD_uc010kcc.2_Missense_Mutation_p.Y71N	p.Y222N	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	4	947	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	222						Missense_Mutation	SNP	ENST00000369415.4	37	c.664T>A	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835935	0.91117	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	D;D	0.82433	-1.61;-1.61	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94427	0.7646	10	0.87932	D	0	-12.5376	16.4075	0.83691	1.0:0.0:0.0:0.0	.	222	Q9NQL2	RRAGD_HUMAN	N	222;71	ENSP00000358423:Y222N;ENSP00000352131:Y71N	ENSP00000352131:Y71N	Y	-	1	0	RRAGD	90145757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.275000	0.75901	0.528000	0.53228	TAT		0.373	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		5	19	0	0	0	0.000602	0	5	19				
LYRM2	57226	broad.mit.edu	37	6	90347478	90347478	+	Missense_Mutation	SNP	T	T	C	rs534210657		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:90347478T>C	ENST00000523377.1	-	2	205	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	LYRM2_ENST00000517396.1_5'UTR|LYRM2_ENST00000520441.1_Missense_Mutation_p.K57E|LYRM2_ENST00000520318.1_Missense_Mutation_p.K57E	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	57						mitochondrion (GO:0005739)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		GTGGCACTTTTGTTTCTTCTG	0.373													T|||	1	0.000199681	0.0	0.0	5008	,	,		16684	0.0		0.0	False		,,,				2504	0.001						uc003pnm.2		NA																	0					0						c.(169-171)AAA>GAA		LYR motif containing 2							176.0	170.0	172.0					6																	90347478		2203	4300	6503	SO:0001583	missense	57226							g.chr6:90347478T>C	BC009782	CCDS5023.1	6q15	2006-09-19			ENSG00000083099	ENSG00000083099		"""LYR motif containing"""	25229	protein-coding gene	gene with protein product						12477932	Standard	NM_020466		Approved	DJ122O8.2	uc003pnm.3	Q9NU23	OTTHUMG00000015203	ENST00000523377.1:c.169A>G	6.37:g.90347478T>C	ENSP00000430025:p.Lys57Glu					LYRM2_uc010kce.1_RNA|LYRM2_uc003png.2_RNA|LYRM2_uc010kcf.1_RNA|LYRM2_uc010kcg.2_RNA|LYRM2_uc003pnl.3_RNA	p.K57E	NM_020466	NP_065199	Q9NU23	LYRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)	2	208	-		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)	57					B2R4U2|E1P517	Missense_Mutation	SNP	ENST00000523377.1	37	c.169A>G	CCDS5023.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111333	0.77210	.	.	ENSG00000083099	ENST00000520441;ENST00000523377;ENST00000520318	T;T;T	0.74842	-0.88;-0.88;-0.88	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	.	.	.	0.58432	D	0.999998	D	0.69078	0.997	D	0.80764	0.994	D	0.86269	0.1660	9	0.66056	D	0.02	.	15.1434	0.72630	0.0:0.0:0.0:1.0	.	57	Q9NU23	LYRM2_HUMAN	E	57	ENSP00000427859:K57E;ENSP00000430025:K57E;ENSP00000428207:K57E	ENSP00000430316:K57E	K	-	1	0	LYRM2	90404199	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.262000	0.78410	2.313000	0.78055	0.455000	0.32223	AAA		0.373	LYRM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041498.2	NM_020466		35	124	0	0	0	0.006999	0	35	124				
BACH2	60468	broad.mit.edu	37	6	90660542	90660542	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:90660542C>A	ENST00000257749.4	-	7	1990	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	BACH2_ENST00000343122.3_Missense_Mutation_p.R428L|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.R428L|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	428						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CACGCTCCTCCGGTCCAGCTC	0.602																																							uc011eab.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1282-1284)CGG>CTG		BTB and CNC homology 1, basic leucine zipper							31.0	34.0	33.0					6																	90660542		2202	4295	6497	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660542C>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1283G>T	6.37:g.90660542C>A	ENSP00000257749:p.Arg428Leu					BACH2_uc003pnw.2_Missense_Mutation_p.R428L|BACH2_uc010kch.2_Missense_Mutation_p.R428L	p.R428L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2092	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	428					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1283G>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354812	0.82243	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.59364	0.27;0.27;0.27	5.56	5.56	0.83823	.	0.050428	0.85682	D	0.000000	T	0.60650	0.2285	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	T	0.60326	-0.7285	10	0.42905	T	0.14	-15.8809	19.5376	0.95260	0.0:1.0:0.0:0.0	.	428	Q9BYV9	BACH2_HUMAN	L	428	ENSP00000257749:R428L;ENSP00000437473:R428L;ENSP00000345642:R428L	ENSP00000257749:R428L	R	-	2	0	BACH2	90717263	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.620000	0.88729	0.655000	0.94253	CGG		0.602	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		10	51	1	0	9.70103e-10	0.008291	1.45558e-09	10	51				
MANEA	79694	broad.mit.edu	37	6	96054232	96054232	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:96054232G>T	ENST00000358812.4	+	5	1474	c.1340G>T	c.(1339-1341)aGt>aTt	p.S447I		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	447	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GAAAAATACAGTAAGGAAAGA	0.358																																							uc003poo.1		NA																	0				ovary(2)|breast(1)	3						c.(1339-1341)AGT>ATT		mannosidase, endo-alpha							53.0	53.0	53.0					6																	96054232		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054232G>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1340G>T	6.37:g.96054232G>T	ENSP00000351669:p.Ser447Ile						p.S447I	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1480	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	447			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1340G>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	5.028	0.190887	0.09547	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.07	0.797	0.18654	.	0.358925	0.38492	N	0.001663	T	0.13970	0.0338	L	0.41236	1.265	0.33289	D	0.563206	B	0.06786	0.001	B	0.09377	0.004	T	0.03068	-1.1076	9	0.35671	T	0.21	-5.2327	2.4266	0.04460	0.1316:0.22:0.4011:0.2473	.	447	Q5SRI9	MANEA_HUMAN	I	447	.	ENSP00000351669:S447I	S	+	2	0	MANEA	96160953	1.000000	0.71417	0.995000	0.50966	0.165000	0.22458	1.523000	0.35932	0.407000	0.25591	-1.268000	0.01426	AGT		0.358	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		7	17	1	0	0.00307968	0.00308	0.00336253	7	17				
MMS22L	253714	broad.mit.edu	37	6	97677230	97677230	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:97677230C>A	ENST00000275053.4	-	14	1844	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	MMS22L_ENST00000369251.2_Missense_Mutation_p.G487C	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	527					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCTGTAGACCAACTTCAGTT	0.318																																							uc003ppb.2		NA																	0					0						c.(1579-1581)GGT>TGT		hypothetical protein LOC253714							26.0	25.0	26.0					6																	97677230		2202	4300	6502	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97677230C>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1579G>T	6.37:g.97677230C>A	ENSP00000275053:p.Gly527Cys					C6orf167_uc011eaf.1_Missense_Mutation_p.G487C	p.G527C	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	14	1845	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	527					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1579G>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398361	0.83120	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.61274	0.12;0.12	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.73606	0.3608	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.76318	-0.3003	10	0.87932	D	0	-4.6393	19.4137	0.94687	0.0:1.0:0.0:0.0	.	487;527	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	C	527;487	ENSP00000275053:G527C;ENSP00000358254:G487C	ENSP00000275053:G527C	G	-	1	0	MMS22L	97783951	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.664000	0.74437	2.597000	0.87782	0.655000	0.94253	GGT		0.318	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		6	11	1	0	0.00116845	0.001168	0.00129404	6	11				
PRDM13	59336	broad.mit.edu	37	6	100056737	100056737	+	Missense_Mutation	SNP	C	C	A	rs368251086		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:100056737C>A	ENST00000369215.4	+	2	570	c.265C>A	c.(265-267)Ccc>Acc	p.P89T		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGCAGACTTACCCGGAGGACA	0.587																																							uc003pqg.1		NA																	0					0						c.(265-267)CCC>ACC		PR domain containing 13							36.0	42.0	40.0					6																	100056737		1916	4115	6031	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100056737C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.265C>A	6.37:g.100056737C>A	ENSP00000358217:p.Pro89Thr						p.P89T	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	2	526	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	89			SET.		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.265C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779662	0.70107	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05717	3.4;3.43	5.34	5.34	0.76211	SET domain (2);	0.000000	0.37261	U	0.002167	T	0.13670	0.0331	L	0.44542	1.39	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.01894	-1.1252	10	0.87932	D	0	-16.4158	18.7052	0.91635	0.0:1.0:0.0:0.0	.	89	Q9H4Q3	PRD13_HUMAN	T	89;99	ENSP00000358217:P89T;ENSP00000358216:P99T	ENSP00000358216:P99T	P	+	1	0	PRDM13	100163458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.510000	0.84645	0.558000	0.71614	CCC		0.587	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			10	15	1	0	0.000978159	0.010729	0.00109184	10	15				
SIM1	6492	broad.mit.edu	37	6	100838856	100838856	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:100838856G>T	ENST00000369208.3	-	12	2464	c.1682C>A	c.(1681-1683)cCc>cAc	p.P561H	SIM1_ENST00000262901.4_Missense_Mutation_p.P561H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	561	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATTTTGCTGGGTTCATGTGG	0.468																																							uc003pqj.3		NA																	0				ovary(4)	4						c.(1681-1683)CCC>CAC		single-minded homolog 1							96.0	98.0	97.0					6																	100838856		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838856G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1682C>A	6.37:g.100838856G>T	ENSP00000358210:p.Pro561His					SIM1_uc010kcu.2_Missense_Mutation_p.P561H	p.P561H	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1889	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	561			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1682C>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017721	0.75161	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.34275	1.37;1.37	5.77	5.77	0.91146	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.24115	0.695	0.80722	D	1	P	0.38223	0.623	B	0.38500	0.275	T	0.02546	-1.1143	10	0.32370	T	0.25	.	19.9944	0.97379	0.0:0.0:1.0:0.0	.	561	P81133	SIM1_HUMAN	H	561	ENSP00000358210:P561H;ENSP00000262901:P561H	ENSP00000262901:P561H	P	-	2	0	SIM1	100945577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	CCC		0.468	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		6	60	1	0	3.59834e-05	0.001168	4.39136e-05	6	60				
ASCC3	10973	broad.mit.edu	37	6	101073156	101073156	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:101073156C>A	ENST00000369162.2	-	30	5041	c.4697G>T	c.(4696-4698)cGt>cTt	p.R1566L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1566	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACGAGTTTGACGTCTTGATGA	0.398																																							uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(4696-4698)CGT>CTT		activating signal cointegrator 1 complex subunit							113.0	107.0	109.0					6																	101073156		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101073156C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4697G>T	6.37:g.101073156C>A	ENSP00000358159:p.Arg1566Leu						p.R1566L	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	30	5026	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1566			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4697G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459140	0.96240	.	.	ENSG00000112249	ENST00000369162	T	0.80214	-1.35	5.87	5.87	0.94306	Helicase, C-terminal (1);	0.056908	0.64402	D	0.000002	D	0.90352	0.6981	H	0.98426	4.23	0.80722	D	1	D	0.54397	0.966	P	0.48114	0.567	D	0.93561	0.6895	10	0.87932	D	0	.	20.1793	0.98193	0.0:1.0:0.0:0.0	.	1566	Q8N3C0	HELC1_HUMAN	L	1566	ENSP00000358159:R1566L	ENSP00000358159:R1566L	R	-	2	0	ASCC3	101179877	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.779000	0.95612	0.585000	0.79938	CGT		0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		11	24	1	0	2.80697e-09	0.010729	4.15305e-09	11	24				
PRDM1	639	broad.mit.edu	37	6	106543577	106543577	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:106543577C>T	ENST00000369096.4	+	3	613	c.379C>T	c.(379-381)Cct>Tct	p.P127S	PRDM1_ENST00000369091.2_Missense_Mutation_p.P91S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	127	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGACACAGTTCCTAAGAACGC	0.393			"""D, N, Mis, F, S"""		DLBCL																																		uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(379-381)CCT>TCT		PR domain containing 1, with ZNF domain isoform							86.0	81.0	83.0					6																	106543577		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106543577C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.379C>T	6.37:g.106543577C>T	ENSP00000358092:p.Pro127Ser						p.P127S	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	3	613	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	127			SET.		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.379C>T	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	33	5.253330	0.95336	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278	T;T	0.80824	-1.42;-1.42	6.06	6.06	0.98353	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88841	0.3312	10	0.87932	D	0	-31.0968	20.6208	0.99490	0.0:1.0:0.0:0.0	.	127	O75626	PRDM1_HUMAN	S	91;127;91	ENSP00000358087:P91S;ENSP00000358092:P127S	ENSP00000358087:P91S	P	+	1	0	PRDM1	106650270	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CCT		0.393	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			5	18	0	0	0	0.000602	0	5	18				
PDSS2	57107	broad.mit.edu	37	6	107595379	107595379	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:107595379G>A	ENST00000369037.4	-	3	761	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	PDSS2_ENST00000453874.2_Missense_Mutation_p.H162Y|PDSS2_ENST00000369031.4_Missense_Mutation_p.H162Y	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	162					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		ATCCCACGATGTACAAGGAGA	0.348																																							uc003prt.2		NA																	0				ovary(2)	2						c.(484-486)CAT>TAT		prenyl diphosphate synthase, subunit 2							81.0	77.0	78.0					6																	107595379		2203	4300	6503	SO:0001583	missense	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107595379G>A	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.484C>T	6.37:g.107595379G>A	ENSP00000358033:p.His162Tyr					PDSS2_uc011eak.1_Missense_Mutation_p.H26Y|PDSS2_uc011eal.1_Missense_Mutation_p.H162Y|PDSS2_uc003pru.2_Missense_Mutation_p.H162Y|PDSS2_uc003prv.2_Missense_Mutation_p.H162Y	p.H162Y	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	3	774	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	162					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	c.484C>T	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565127	0.86439	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.71461	-0.57;-0.57;-0.57	5.55	5.55	0.83447	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.90289	0.4321	10	0.87932	D	0	.	19.5053	0.95113	0.0:0.0:1.0:0.0	.	162;162;162;162	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	Y	162	ENSP00000358033:H162Y;ENSP00000399691:H162Y;ENSP00000358027:H162Y	ENSP00000358027:H162Y	H	-	1	0	PDSS2	107702072	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.407000	0.97325	2.616000	0.88540	0.585000	0.79938	CAT		0.348	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		11	21	0	0	0	0.008291	0	11	21				
SCML4	256380	broad.mit.edu	37	6	108070974	108070974	+	Missense_Mutation	SNP	G	G	T	rs112676572		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:108070974G>T	ENST00000369020.3	-	3	445	c.200C>A	c.(199-201)cCg>cAg	p.P67Q	SCML4_ENST00000369022.2_Missense_Mutation_p.P9Q|SCML4_ENST00000369021.3_Missense_Mutation_p.P38Q	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGTACTCCGCGGAGGTGAGAG	0.582																																							uc010kdf.2		NA																	0				ovary(1)	1						c.(199-201)CCG>CAG		sex comb on midleg-like 4							75.0	78.0	77.0					6																	108070974		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108070974G>T		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.200C>A	6.37:g.108070974G>T	ENSP00000358016:p.Pro67Gln					SCML4_uc003prz.3_Missense_Mutation_p.P9Q|SCML4_uc011eam.1_Missense_Mutation_p.P67Q|SCML4_uc003psa.3_Missense_Mutation_p.P38Q	p.P67Q	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	3	451	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	67					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.200C>A	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756569	0.49362	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.56275	0.64;0.85;0.47;0.62	5.31	4.39	0.52855	.	0.847854	0.10570	N	0.659260	T	0.61388	0.2343	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	P;P;D	0.97110	0.892;0.876;1.0	T	0.58702	-0.7590	10	0.52906	T	0.07	.	12.9546	0.58418	0.083:0.0:0.917:0.0	.	67;67;38	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	Q	9;67;38;38	ENSP00000358018:P9Q;ENSP00000358016:P67Q;ENSP00000358017:P38Q;ENSP00000404688:P38Q	ENSP00000358016:P67Q	P	-	2	0	SCML4	108177667	1.000000	0.71417	0.702000	0.30337	0.021000	0.10359	7.559000	0.82265	1.117000	0.41842	-0.345000	0.07892	CCG		0.582	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		9	30	1	0	1.76689e-08	0.006214	2.52626e-08	9	30				
SEC63	11231	broad.mit.edu	37	6	108214792	108214792	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:108214792G>C	ENST00000369002.4	-	16	1747	c.1568C>G	c.(1567-1569)aCt>aGt	p.T523S		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	523	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGATTTAGCAGTTTTCTTGGG	0.378																																							uc003psc.3		NA																	0				ovary(1)|skin(1)	2						c.(1567-1569)ACT>AGT		SEC63-like protein							149.0	152.0	151.0					6																	108214792		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214792G>C	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1568C>G	6.37:g.108214792G>C	ENSP00000357998:p.Thr523Ser					SEC63_uc003psb.3_Missense_Mutation_p.T383S	p.T523S	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1837	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	523			SEC63 1.|Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1568C>G	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993417	0.19043	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.62105	0.05	5.38	2.39	0.29439	Sec63 domain (2);	0.579842	0.20314	N	0.094779	T	0.10165	0.0249	N	0.02011	-0.69	0.23271	N	0.99801	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.39981	-0.9587	10	0.07644	T	0.81	0.1645	7.816	0.29260	0.1507:0.134:0.7154:0.0	.	523;523	Q9UGP8;B3KQF0	SEC63_HUMAN;.	S	523;174;383	ENSP00000357998:T523S	ENSP00000357998:T523S	T	-	2	0	SEC63	108321485	0.935000	0.31712	0.742000	0.31022	0.991000	0.79684	2.187000	0.42602	0.724000	0.32296	0.563000	0.77884	ACT		0.378	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		16	106	0	0	0	0.003163	0	16	106				
ARMC2	84071	broad.mit.edu	37	6	109274530	109274530	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:109274530G>T	ENST00000392644.4	+	13	2059	c.1891G>T	c.(1891-1893)Gtg>Ttg	p.V631L	ARMC2_ENST00000368972.3_Missense_Mutation_p.V466L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	631										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CCCGGGGATAGTGGGCCTGCT	0.642																																							uc003pss.3		NA																	0					0						c.(1891-1893)GTG>TTG		armadillo repeat containing 2							19.0	22.0	21.0					6																	109274530		2198	4294	6492	SO:0001583	missense	84071						binding	g.chr6:109274530G>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1891G>T	6.37:g.109274530G>T	ENSP00000376417:p.Val631Leu					ARMC2_uc011eao.1_Missense_Mutation_p.V466L	p.V631L	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	13	2065	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	631			ARM 9.		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1891G>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700054	0.48307	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.43294	0.95;0.95	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.127672	0.53938	D	0.000047	T	0.22437	0.0541	L	0.52905	1.665	0.49051	D	0.999749	B	0.13594	0.008	B	0.16289	0.015	T	0.04930	-1.0917	10	0.16420	T	0.52	-14.5805	13.283	0.60226	0.0723:0.0:0.9277:0.0	.	631	Q8NEN0	ARMC2_HUMAN	L	466;631	ENSP00000357968:V466L;ENSP00000376417:V631L	ENSP00000357968:V466L	V	+	1	0	ARMC2	109381223	1.000000	0.71417	0.963000	0.40424	0.392000	0.30506	3.649000	0.54417	2.752000	0.94435	0.650000	0.86243	GTG		0.642	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		6	19	1	0	5.18039e-06	0.00308	6.58689e-06	6	19				
ZBTB24	9841	broad.mit.edu	37	6	109787142	109787142	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:109787142T>C	ENST00000230122.3	-	7	2173	c.2006A>G	c.(2005-2007)cAg>cGg	p.Q669R	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	669					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTGCAGGTGCTGAGCTGGATC	0.557																																							uc003ptl.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2005-2007)CAG>CGG		zinc finger and BTB domain containing 24 isoform							124.0	117.0	119.0					6																	109787142		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787142T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.2006A>G	6.37:g.109787142T>C	ENSP00000230122:p.Gln669Arg					MICAL1_uc011eaq.1_5'UTR|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Q613R|ZBTB24_uc010kdt.1_RNA	p.Q669R	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2174	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	669					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.2006A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045560	0.36085	.	.	ENSG00000112365	ENST00000230122	T	0.11169	2.8	5.42	5.42	0.78866	.	1.019030	0.07854	N	0.965184	T	0.07458	0.0188	N	0.08118	0	0.33178	D	0.549206	D	0.56521	0.976	P	0.54815	0.761	T	0.36383	-0.9750	10	0.72032	D	0.01	0.1271	15.6293	0.76888	0.0:0.0:0.0:1.0	.	669	O43167	ZBT24_HUMAN	R	669	ENSP00000230122:Q669R	ENSP00000230122:Q669R	Q	-	2	0	ZBTB24	109893835	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	0.683000	0.25349	2.276000	0.75962	0.528000	0.53228	CAG		0.557	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		12	49	0	0	0	0.001368	0	12	49				
GSTM2P1	442245	broad.mit.edu	37	6	111368114	111368114	+	IGR	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:111368114A>T								RPF2 (20811 upstream) : SLC16A10 (40666 downstream)																							CACAGGTCTCAGGAGGAAGCA	0.547																																							uc003puq.2		NA																	0					0						c.(508-510)CTG>CAG		Homo sapiens chromosome 1 truncated glutathione S-transferase M1 mRNA, complete cds.																																				SO:0001628	intergenic_variant	442245							g.chr6:111368114A>T																													6.37:g.111368114A>T							p.L170Q	NR_002932						1	644	-									Missense_Mutation	SNP		37	c.509T>A																																																																																				0	0.547									33	38	0	0	0	0.010818	0	33	38				
FYN	2534	broad.mit.edu	37	6	111983136	111983136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:111983136C>A	ENST00000354650.3	-	14	2026	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*	FYN_ENST00000368682.3_Nonsense_Mutation_p.E471*|FYN_ENST00000356013.2_Nonsense_Mutation_p.E419*|FYN_ENST00000538466.1_Nonsense_Mutation_p.E471*|FYN_ENST00000368678.4_Nonsense_Mutation_p.E471*|FYN_ENST00000368667.2_Nonsense_Mutation_p.E474*|FYN_ENST00000229470.5_Nonsense_Mutation_p.E422*|FYN_ENST00000229471.4_Nonsense_Mutation_p.E419*	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCCAGCACCTCCCGGTTGTTC	0.607																																							uc003pvj.2		NA																	0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(1420-1422)GAG>TAG		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						82.0	81.0	81.0					6																	111983136		2203	4300	6503	SO:0001587	stop_gained	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983136C>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1420G>T	6.37:g.111983136C>A	ENSP00000346671:p.Glu474*					FYN_uc003pvi.2_Nonsense_Mutation_p.E419*|FYN_uc003pvk.2_Nonsense_Mutation_p.E474*|FYN_uc003pvh.2_Nonsense_Mutation_p.E471*	p.E474*	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	13	1760	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	474			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Nonsense_Mutation	SNP	ENST00000354650.3	37	c.1420G>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	C	39	7.795237	0.98495	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6355	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	X	471;474;419;474;471;422;419;471;422	.	ENSP00000229470:E422X	E	-	1	0	FYN	112089829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.646000	0.89796	0.561000	0.74099	GAG		0.607	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			13	75	1	0	0.00136819	0.001368	0.00151231	13	75				
LAMA4	3910	broad.mit.edu	37	6	112462121	112462121	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:112462121C>A	ENST00000230538.7	-	22	3214	c.2817G>T	c.(2815-2817)gtG>gtT	p.V939V	LAMA4_ENST00000424408.2_Silent_p.V932V|LAMA4_ENST00000522006.1_Silent_p.V932V|LAMA4_ENST00000389463.4_Silent_p.V932V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	939	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATGTTTTCCCACCCTATTGA	0.343																																							uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2815-2817)GTG>GTT		laminin, alpha 4 isoform 1 precursor							84.0	85.0	85.0					6																	112462121		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462121C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2817G>T	6.37:g.112462121C>A						LAMA4_uc003pvv.2_Silent_p.V932V|LAMA4_uc003pvt.2_Silent_p.V932V	p.V939V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	22	3126	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	939			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2817G>T	CCDS43491.1																																																																																				0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		13	35	1	0	0.00136819	0.001368	0.00151231	13	35				
GPRC6A	222545	broad.mit.edu	37	6	117113850	117113850	+	Nonsense_Mutation	SNP	C	C	A	rs375609098		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:117113850C>A	ENST00000310357.3	-	6	2257	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.E571*|GPRC6A_ENST00000368549.3_Nonsense_Mutation_p.E675*	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	746					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGGATCCCTCCTCACACTCC	0.468																																							uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(2236-2238)GAG>TAG		G protein-coupled receptor, family C, group 6,							63.0	60.0	61.0					6																	117113850		2203	4300	6503	SO:0001587	stop_gained	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113850C>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2236G>T	6.37:g.117113850C>A	ENSP00000309493:p.Glu746*					GPRC6A_uc003pxk.1_Nonsense_Mutation_p.E571*|GPRC6A_uc003pxl.1_Nonsense_Mutation_p.E675*	p.E746*	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2258	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	746			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Nonsense_Mutation	SNP	ENST00000310357.3	37	c.2236G>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	36	5.764801	0.96906	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	.	.	.	4.37	4.37	0.52481	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	17.0959	0.86635	0.0:1.0:0.0:0.0	.	.	.	.	X	746;675;571	.	ENSP00000309493:E746X	E	-	1	0	GPRC6A	117220543	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.490000	0.66881	2.270000	0.75569	0.591000	0.81541	GAG		0.468	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			9	11	1	0	1.76689e-08	0.006214	2.52626e-08	9	11				
ASF1A	25842	broad.mit.edu	37	6	119222019	119222019	+	Silent	SNP	C	C	A	rs376486285		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:119222019C>A	ENST00000229595.5	+	2	392	c.198C>A	c.(196-198)ccC>ccA	p.P66P	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	66	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GTCCTGTTCCCGCAGGAAGGC	0.348																																							uc011ebn.1		NA																	0					0						c.(196-198)CCC>CCA		ASF1 anti-silencing function 1 homolog A							227.0	223.0	224.0					6																	119222019		1853	4094	5947	SO:0001819	synonymous_variant	25842				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	g.chr6:119222019C>A	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.198C>A	6.37:g.119222019C>A							p.P66P	NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)	2	535	+		all_cancers(87;0.122)|all_epithelial(87;0.179)	66			Interaction with histone H3, CHAF1B, and HIRA.		Q6IA08|Q9P014	Silent	SNP	ENST00000229595.5	37	c.198C>A	CCDS47469.1																																																																																				0.348	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1	NM_014034		28	108	1	0	4.74835e-14	0.010818	8.05609e-14	28	108				
TBC1D32	221322	broad.mit.edu	37	6	121638700	121638701	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:121638700_121638701CC>AA	ENST00000398212.2	-	3	484_485	c.435_436GG>TT	c.(433-438)aaGGag>aaTTag	p.145_146KE>N*	TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.145_146KE>N*	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	145					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TGGCTTTTCTCCTTTTGGATTT	0.361																																							uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(433-438)AAGGAG>AATTAG		hypothetical protein LOC221322																																				SO:0001587	stop_gained	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121638700_121638701CC>AA	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.435_436delinsAA	6.37:g.121638700_121638701delinsAA	ENSP00000381270:p.K145_E146delinsN*					C6orf170_uc003pyq.1_RNA	p.145_146KE>N*	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	3	503_504	-			145_146					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	DNP	ENST00000398212.2	37	c.435_436GG>TT	CCDS43501.1																																																																																				0.361	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		5	54	0	0	0	0.004672	0	5	54				
LAMA2	3908	broad.mit.edu	37	6	129486760	129486760	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:129486760T>A	ENST00000421865.2	+	9	1295	c.1246T>A	c.(1246-1248)Tgc>Agc	p.C416S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	416	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCATGTCATTGCGATCCAAT	0.383																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(1246-1248)TGC>AGC		laminin alpha 2 subunit isoform a precursor							117.0	101.0	106.0					6																	129486760		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129486760T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1246T>A	6.37:g.129486760T>A	ENSP00000400365:p.Cys416Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.C416S	p.C416S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	9	1351	+			416			Laminin EGF-like 3.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1246T>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098808	0.56183	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.95272	-3.66	4.94	4.94	0.65067	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99690	1.1001	10	0.87932	D	0	.	14.5381	0.67976	0.0:0.0:0.0:1.0	.	416;416	A6NF00;P24043	.;LAMA2_HUMAN	S	416	ENSP00000400365:C416S	ENSP00000346769:C416S	C	+	1	0	LAMA2	129528453	1.000000	0.71417	0.329000	0.25429	0.363000	0.29612	5.074000	0.64401	1.990000	0.58119	0.397000	0.26171	TGC		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	22	0	0	0	0.001168	0	5	22				
LAMA2	3908	broad.mit.edu	37	6	129634139	129634139	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:129634139G>T	ENST00000421865.2	+	23	3357	c.3308G>T	c.(3307-3309)tGc>tTc	p.C1103F		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1103	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACCCTCGCTGCAATCTCTGT	0.468																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(3307-3309)TGC>TTC		laminin alpha 2 subunit isoform a precursor							144.0	130.0	135.0					6																	129634139		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129634139G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3308G>T	6.37:g.129634139G>T	ENSP00000400365:p.Cys1103Phe					LAMA2_uc003qbo.2_Missense_Mutation_p.C1103F	p.C1103F	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	23	3413	+			1103			Laminin EGF-like 12.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3308G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619166	0.87460	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.56275	0.47	5.92	5.92	0.95590	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90828	0.4714	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1103;1103	A6NF00;P24043	.;LAMA2_HUMAN	F	1103	ENSP00000400365:C1103F	ENSP00000346769:C1103F	C	+	2	0	LAMA2	129675832	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	8.524000	0.90579	2.822000	0.97130	0.650000	0.86243	TGC		0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			15	54	1	0	1.3612e-06	0.003163	1.79244e-06	15	54				
SAMD3	154075	broad.mit.edu	37	6	130505706	130505706	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:130505706A>T	ENST00000368134.2	-	8	1054	c.446T>A	c.(445-447)tTa>tAa	p.L149*	SAMD3_ENST00000324172.6_Nonsense_Mutation_p.L149*|SAMD3_ENST00000532763.1_Nonsense_Mutation_p.L147*|SAMD3_ENST00000457563.2_Nonsense_Mutation_p.L173*|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Nonsense_Mutation_p.L149*|SAMD3_ENST00000439090.2_Nonsense_Mutation_p.L149*	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	149										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAACTCTGGTAAAACATAGGA	0.398																																							uc003qbv.2		NA																	0				ovary(1)	1						c.(445-447)TTA>TAA		sterile alpha motif domain containing 3 isoform							119.0	106.0	111.0					6																	130505706		2203	4300	6503	SO:0001587	stop_gained	154075							g.chr6:130505706A>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.446T>A	6.37:g.130505706A>T	ENSP00000357116:p.Leu149*					SAMD3_uc003qbx.2_Nonsense_Mutation_p.L149*|SAMD3_uc003qbw.2_Nonsense_Mutation_p.L149*|SAMD3_uc010kfg.1_Nonsense_Mutation_p.L149*|SAMD3_uc003qby.2_Nonsense_Mutation_p.L149*|SAMD3_uc003qbz.1_Nonsense_Mutation_p.L108*	p.L149*	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	772	-			149					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Nonsense_Mutation	SNP	ENST00000368134.2	37	c.446T>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	A	35	5.510098	0.96386	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	.	.	.	5.67	5.67	0.87782	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.465	0.67477	1.0:0.0:0.0:0.0	.	.	.	.	X	149;173;149;149;147;149;148;149;146	.	ENSP00000324874:L149X	L	-	2	0	SAMD3	130547399	1.000000	0.71417	0.950000	0.38849	0.994000	0.84299	6.041000	0.70988	2.149000	0.67028	0.533000	0.62120	TTA		0.398	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		6	30	0	0	0	0.001984	0	6	30				
TAAR1	134864	broad.mit.edu	37	6	132966951	132966951	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:132966951G>T	ENST00000275216.1	-	1	191	c.192C>A	c.(190-192)tcC>tcA	p.S64S		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	64					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	CAGTGGCCATGGAATGAATGA	0.418																																							uc003qdm.1		NA																	0					0						c.(190-192)TCC>TCA		trace amine associated receptor 1	Amphetamine(DB00182)						131.0	128.0	129.0					6																	132966951		2203	4300	6503	SO:0001819	synonymous_variant	134864					plasma membrane		g.chr6:132966951G>T	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.192C>A	6.37:g.132966951G>T							p.S64S	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	192	-	Breast(56;0.135)		64			Helical; Name=2; (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	37	c.192C>A	CCDS5158.1																																																																																				0.418	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		12	52	1	0	2.80697e-09	0.010729	4.15305e-09	12	52				
ALDH8A1	64577	broad.mit.edu	37	6	135239893	135239893	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:135239893G>A	ENST00000265605.2	-	7	1192	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P321L|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P325L	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	375					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TATCACCGTGGGAAGCATAAA	0.512																																							uc003qew.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1123-1125)CCC>CTC		aldehyde dehydrogenase 8A1 isoform 1							119.0	112.0	114.0					6																	135239893		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135239893G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1124C>T	6.37:g.135239893G>A	ENSP00000265605:p.Pro375Leu					ALDH8A1_uc003qex.2_Missense_Mutation_p.P321L|ALDH8A1_uc010kgh.2_Missense_Mutation_p.P153L|ALDH8A1_uc011ecx.1_Missense_Mutation_p.P325L	p.P375L	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	7	1177	-	Colorectal(23;0.221)		375					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.1124C>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644410	0.87859	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;D	0.90197	-0.43;-0.43;-0.43;-2.63	5.72	4.85	0.62838	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.142122	0.64402	D	0.000004	D	0.95664	0.8590	M	0.92507	3.315	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79108	0.992;0.969;0.992	D	0.96728	0.9537	10	0.87932	D	0	.	14.8104	0.69992	0.0692:0.0:0.9308:0.0	.	325;321;375	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	L	375;321;325;60	ENSP00000265605:P375L;ENSP00000356819:P321L;ENSP00000356821:P325L;ENSP00000437161:P60L	ENSP00000265605:P375L	P	-	2	0	ALDH8A1	135281586	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.657000	0.98554	1.422000	0.47177	0.655000	0.94253	CCC		0.512	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			22	75	0	0	0	0.010504	0	22	75				
BCLAF1	9774	broad.mit.edu	37	6	136589325	136589325	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:136589325C>A	ENST00000531224.1	-	10	2624	c.2372G>T	c.(2371-2373)gGa>gTa	p.G791V	BCLAF1_ENST00000530767.1_Missense_Mutation_p.G618V|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G789V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G791V|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G9V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G789V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G789V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	791					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCGGCTAACTCCTGCAAAGCC	0.378																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(2371-2373)GGA>GTA		BCL2-associated transcription factor 1 isoform							195.0	182.0	186.0					6																	136589325		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589325C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2372G>T	6.37:g.136589325C>A	ENSP00000435210:p.Gly791Val					BCLAF1_uc011edb.1_Missense_Mutation_p.G119V|BCLAF1_uc003qgw.1_Missense_Mutation_p.G618V|BCLAF1_uc003qgy.1_Missense_Mutation_p.G789V|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G789V	p.G791V	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2625	-	Colorectal(23;0.24)		791					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2372G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.765070|3.765070	0.69878|0.69878	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.46819|.	2.9;2.79;2.79;2.49;2.9;0.86;2.79|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.47284|0.47284	0.1437|0.1437	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.999;1.0|.	D;D;D;D;D|.	0.87578|.	0.964;0.993;0.964;0.964;0.998|.	T|T	0.40961|0.40961	-0.9535|-0.9535	10|5	0.52906|.	T|.	0.07|.	-12.0323|-12.0323	18.9333|18.9333	0.92576|0.92576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	789;119;789;791;618|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	V|S	791;789;791;618;789;9;789|57	ENSP00000435210:G791V;ENSP00000229446:G789V;ENSP00000435441:G791V;ENSP00000436501:G618V;ENSP00000434826:G789V;ENSP00000031135:G9V;ENSP00000376159:G789V|.	ENSP00000031135:G9V|.	G|R	-|-	2|3	0|2	BCLAF1|BCLAF1	136631018|136631018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.211000|4.211000	0.58507|0.58507	2.492000|2.492000	0.84095|0.84095	0.484000|0.484000	0.47621|0.47621	GGA|AGG		0.378	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	99	1	0	1.3612e-06	0.003163	1.79244e-06	9	99				
BCLAF1	9774	broad.mit.edu	37	6	136597197	136597197	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:136597197G>C	ENST00000531224.1	-	5	1718	c.1466C>G	c.(1465-1467)aCa>aGa	p.T489R	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.T487R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.T489R|BCLAF1_ENST00000353331.4_Missense_Mutation_p.T487R|BCLAF1_ENST00000527759.1_Missense_Mutation_p.T487R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	489					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTCTTTACTGTTATTCTTTC	0.368																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(1465-1467)ACA>AGA		BCL2-associated transcription factor 1 isoform							173.0	179.0	177.0					6																	136597197		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597197G>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1466C>G	6.37:g.136597197G>C	ENSP00000435210:p.Thr489Arg					BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.T487R|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.T487R	p.T489R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1719	-	Colorectal(23;0.24)		489					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1466C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492216	0.26774	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	5.22	4.11	0.48088	.	0.187983	0.37304	N	0.002154	T	0.02970	0.0088	N	0.14661	0.345	0.80722	D	1	P;B;P	0.40476	0.718;0.13;0.718	B;B;B	0.35470	0.203;0.043;0.203	T	0.49908	-0.8889	10	0.20519	T	0.43	-11.0495	11.9996	0.53222	0.157:0.0:0.843:0.0	.	487;487;489	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	R	489;487;489;487;487;489	ENSP00000435210:T489R;ENSP00000229446:T487R;ENSP00000435441:T489R;ENSP00000434826:T487R;ENSP00000376159:T487R;ENSP00000431734:T489R	ENSP00000229446:T487R	T	-	2	0	BCLAF1	136638890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.804000	0.38873	2.628000	0.89032	0.454000	0.30748	ACA		0.368	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	106	0	0	0	0.001855	0	14	106				
BCLAF1	9774	broad.mit.edu	37	6	136597469	136597469	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:136597469T>A	ENST00000531224.1	-	5	1446	c.1194A>T	c.(1192-1194)gaA>gaT	p.E398D	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E396D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E398D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E396D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E396D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	398					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTCATCCCCTTCTGAATCAT	0.443																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(1192-1194)GAA>GAT		BCL2-associated transcription factor 1 isoform							317.0	326.0	323.0					6																	136597469		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597469T>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1194A>T	6.37:g.136597469T>A	ENSP00000435210:p.Glu398Asp					BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.E396D|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E396D	p.E398D	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1447	-	Colorectal(23;0.24)		398					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1194A>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705552	0.48412	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	T	0.04363	0.0120	N	0.08118	0	0.80722	D	1	P;P;P	0.41784	0.612;0.762;0.612	B;B;B	0.39379	0.186;0.298;0.186	T	0.30650	-0.9971	10	0.46703	T	0.11	-8.6507	11.0938	0.48132	0.1381:0.0:0.0:0.8619	.	396;396;398	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	D	398;396;398;396;396;398	ENSP00000435210:E398D;ENSP00000229446:E396D;ENSP00000435441:E398D;ENSP00000434826:E396D;ENSP00000376159:E396D;ENSP00000431734:E398D	ENSP00000229446:E396D	E	-	3	2	BCLAF1	136639162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.576000	0.46033	2.240000	0.73641	0.528000	0.53228	GAA		0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		37	230	0	0	0	0.007835	0	37	230				
IL22RA2	116379	broad.mit.edu	37	6	137468906	137468906	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:137468906A>T	ENST00000296980.2	-	6	895	c.595T>A	c.(595-597)Tat>Aat	p.Y199N	IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Missense_Mutation_p.Y167N	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	199	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		AGTAGTTCATAGTAATCTTCT	0.274																																							uc003qhl.2		NA																	0					0						c.(595-597)TAT>AAT		interleukin 22-binding protein isoform 1							60.0	66.0	64.0					6																	137468906		2202	4295	6497	SO:0001583	missense	116379				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137468906A>T	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.595T>A	6.37:g.137468906A>T	ENSP00000296980:p.Tyr199Asn					IL22RA2_uc003qhm.2_Missense_Mutation_p.Y167N|IL22RA2_uc003qhn.2_Intron	p.Y199N	NM_052962	NP_443194	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	6	896	-	Colorectal(23;0.24)		199			Fibronectin type-III 3.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Missense_Mutation	SNP	ENST00000296980.2	37	c.595T>A	CCDS5182.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559145	0.45590	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	T;T	0.36157	1.27;1.27	5.58	4.43	0.53597	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.076810	0.07141	N	0.847301	T	0.47838	0.1467	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.79784	0.899;0.993	T	0.47302	-0.9128	10	0.59425	D	0.04	.	7.4456	0.27209	0.9052:0.0:0.0948:0.0	.	167;199	Q969J5-2;Q969J5	.;I22R2_HUMAN	N	167;199	ENSP00000296979:Y167N;ENSP00000296980:Y199N	ENSP00000296980:Y199N	Y	-	1	0	IL22RA2	137510599	1.000000	0.71417	0.998000	0.56505	0.256000	0.26092	3.649000	0.54417	2.119000	0.64992	0.533000	0.62120	TAT		0.274	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			10	55	0	0	0	0.006214	0	10	55				
GPR126	57211	broad.mit.edu	37	6	142741181	142741181	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:142741181G>T	ENST00000230173.6	+	22	3735	c.3259G>T	c.(3259-3261)Gcc>Tcc	p.A1087S	GPR126_ENST00000367609.3_Missense_Mutation_p.A1087S|GPR126_ENST00000367608.2_Missense_Mutation_p.A1059S|GPR126_ENST00000296932.8_Missense_Mutation_p.A1059S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1087					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGCATTCTTTGCCTGGGGACC	0.433																																							uc010khc.2		NA																	0				ovary(1)	1						c.(3259-3261)GCC>TCC		G protein-coupled receptor 126 alpha 1							190.0	191.0	191.0					6																	142741181		1900	4112	6012	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142741181G>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.3259G>T	6.37:g.142741181G>T	ENSP00000230173:p.Ala1087Ser					GPR126_uc010khd.2_Missense_Mutation_p.A1059S|GPR126_uc010khe.2_Missense_Mutation_p.A1087S|GPR126_uc010khf.2_Missense_Mutation_p.A1059S|GPR126_uc011edv.1_Missense_Mutation_p.A147S	p.A1087S	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	22	3670	+	Breast(32;0.176)		1087			Helical; Name=6; (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.3259G>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340590	0.41498	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.43	3.65	0.41850	GPCR, family 2-like (1);	0.272209	0.31909	N	0.006863	T	0.44180	0.1281	L	0.58925	1.835	0.52501	D	0.999959	P;D;D;D;D	0.89917	0.944;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.896;0.999;0.999;0.999;1.0	T	0.48175	-0.9058	10	0.72032	D	0.01	.	12.7099	0.57083	0.0:0.126:0.7428:0.1313	.	147;1059;1087;1059;1087	B4DSK4;Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;.;GP126_HUMAN	S	1087;1059;1059;1087	ENSP00000230173:A1087S;ENSP00000356580:A1059S;ENSP00000296932:A1059S;ENSP00000356581:A1087S	ENSP00000230173:A1087S	A	+	1	0	GPR126	142782874	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	4.403000	0.59729	0.771000	0.33359	-0.885000	0.02943	GCC		0.433	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			23	103	1	0	3.8784e-16	0.012319	6.81829e-16	23	103				
HIVEP2	3097	broad.mit.edu	37	6	143080981	143080981	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:143080981C>A	ENST00000367604.1	-	8	7083	c.6444G>T	c.(6442-6444)agG>agT	p.R2148S	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R2148S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R2148S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2148	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGTATAAAGCCCTTCTGGGAG	0.453																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6442-6444)AGG>AGT		human immunodeficiency virus type I enhancer							194.0	179.0	184.0					6																	143080981		1905	4116	6021	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143080981C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6444G>T	6.37:g.143080981C>A	ENSP00000356576:p.Arg2148Ser						p.R2148S	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	7187	-			2148			10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|10.|Arg-rich.		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6444G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190778	0.58017	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02863	4.13;4.13;4.13	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	M	0.65498	2.005	0.51767	D	0.999935	D	0.76494	0.999	D	0.80764	0.994	T	0.01096	-1.1453	10	0.62326	D	0.03	-26.988	10.4925	0.44758	0.0:0.8569:0.0:0.1431	.	2148	P31629	ZEP2_HUMAN	S	2148	ENSP00000356576:R2148S;ENSP00000356575:R2148S;ENSP00000012134:R2148S	ENSP00000012134:R2148S	R	-	3	2	HIVEP2	143122674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.886000	0.48578	2.775000	0.95449	0.585000	0.79938	AGG		0.453	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			21	26	1	0	5.26018e-13	0.012319	8.69874e-13	21	26				
LTV1	84946	broad.mit.edu	37	6	144179062	144179062	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:144179062G>A	ENST00000367576.5	+	6	847	c.713G>A	c.(712-714)aGt>aAt	p.S238N		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	238						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		GAAACAAAGAGTCGCTTCACG	0.468																																							uc003qjs.2		NA																	0				ovary(1)	1						c.(712-714)AGT>AAT		LTV1 homolog							86.0	82.0	83.0					6																	144179062		2203	4300	6503	SO:0001583	missense	84946							g.chr6:144179062G>A	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.713G>A	6.37:g.144179062G>A	ENSP00000356548:p.Ser238Asn					LTV1_uc003qju.1_Missense_Mutation_p.S23N|C6orf94_uc010khj.2_5'UTR	p.S238N	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	6	820	+			238					Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	c.713G>A	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742478	0.89573	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.89601	3.045	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	T	0.82985	-0.0185	9	0.40728	T	0.16	-0.1317	20.0553	0.97649	0.0:0.0:1.0:0.0	.	238	Q96GA3	LTV1_HUMAN	N	238	.	ENSP00000356548:S238N	S	+	2	0	LTV1	144220755	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.454000	0.80714	2.754000	0.94517	0.585000	0.79938	AGT		0.468	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		4	29	0	0	0	0.009096	0	4	29				
FBXO30	84085	broad.mit.edu	37	6	146126176	146126176	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:146126176C>A	ENST00000237281.4	-	2	1532	c.1366G>T	c.(1366-1368)Gtt>Ttt	p.V456F		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	456							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TGAGTCCCAACGTCAATGTGA	0.433																																							uc003qla.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1366-1368)GTT>TTT		F-box only protein 30							174.0	170.0	172.0					6																	146126176		2203	4299	6502	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126176C>A	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1366G>T	6.37:g.146126176C>A	ENSP00000237281:p.Val456Phe					uc003qky.1_Intron	p.V456F	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1565	-		Ovarian(120;0.0776)	456					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1366G>T	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.311414	0.01342	.	.	ENSG00000118496	ENST00000237281	T	0.39997	1.05	5.66	4.49	0.54785	.	0.044485	0.85682	N	0.000000	T	0.02688	0.0081	N	0.00151	-1.98	0.31435	N	0.672674	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	10	0.02654	T	1	-17.2397	13.2429	0.60008	0.865:0.135:0.0:0.0	.	456	Q8TB52	FBX30_HUMAN	F	456	ENSP00000237281:V456F	ENSP00000237281:V456F	V	-	1	0	FBXO30	146167869	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.071000	0.71229	1.075000	0.40932	-0.266000	0.10368	GTT		0.433	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			11	76	1	0	3.07112e-06	0.010729	3.94924e-06	11	76				
SHPRH	257218	broad.mit.edu	37	6	146271525	146271525	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:146271525T>G	ENST00000367505.2	-	4	1121	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	SHPRH_ENST00000367503.3_Missense_Mutation_p.Q286P|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q286P|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q286P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	286					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGCGTTTCTTGCTGATGTGT	0.473																																							uc003qlf.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(856-858)CAA>CCA		SNF2 histone linker PHD RING helicase isoform a							248.0	251.0	250.0					6																	146271525		2039	4181	6220	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146271525T>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.857A>C	6.37:g.146271525T>G	ENSP00000356475:p.Gln286Pro					SHPRH_uc003qld.2_Missense_Mutation_p.Q286P|SHPRH_uc003qle.2_Missense_Mutation_p.Q286P|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.Q175P|SHPRH_uc003qlk.1_Missense_Mutation_p.Q286P	p.Q286P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	4	1256	-		Ovarian(120;0.0365)	286					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.857A>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597520	0.46318	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.95	4.79	0.61399	.	0.172268	0.40144	N	0.001178	D	0.85057	0.5610	L	0.32530	0.975	0.40955	D	0.98457	P;B;P;P	0.43633	0.467;0.393;0.528;0.813	B;B;B;B	0.43754	0.346;0.092;0.189;0.43	T	0.83351	-0.0003	10	0.27785	T	0.31	-8.5939	12.208	0.54363	0.0:0.0666:0.0:0.9334	.	175;286;286;175	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	P	286;286;286;286;175	ENSP00000356475:Q286P;ENSP00000356473:Q286P;ENSP00000412797:Q286P;ENSP00000275233:Q286P	ENSP00000275233:Q286P	Q	-	2	0	SHPRH	146313218	0.999000	0.42202	0.996000	0.52242	0.986000	0.74619	1.833000	0.39161	1.066000	0.40716	0.528000	0.53228	CAA		0.473	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		29	80	0	0	0	0.007291	0	29	80				
GRM1	2911	broad.mit.edu	37	6	146351134	146351134	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:146351134G>T	ENST00000282753.1	+	1	716	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	GRM1_ENST00000361719.2_Missense_Mutation_p.G161C|GRM1_ENST00000492807.2_Missense_Mutation_p.G161C|GRM1_ENST00000355289.4_Missense_Mutation_p.G161C|GRM1_ENST00000392299.2_Missense_Mutation_p.G161C|GRM1_ENST00000507907.1_Missense_Mutation_p.G161C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	161					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGGAGTGATCGGTCCCGGCTC	0.572																																							uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(481-483)GGT>TGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						70.0	74.0	73.0					6																	146351134		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351134G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.481G>T	6.37:g.146351134G>T	ENSP00000282753:p.Gly161Cys					GRM1_uc010khu.1_Missense_Mutation_p.G161C|GRM1_uc010khv.1_Missense_Mutation_p.G161C|GRM1_uc003qll.2_Missense_Mutation_p.G161C|GRM1_uc011edz.1_Missense_Mutation_p.G161C|GRM1_uc011eea.1_Missense_Mutation_p.G161C	p.G161C	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	951	+		Ovarian(120;0.0387)	161			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.481G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410307	0.83340	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58;-4.58	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99395	1.0926	10	0.87932	D	0	.	19.8011	0.96507	0.0:0.0:1.0:0.0	.	161;161;156;161	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	161	ENSP00000354896:G161C;ENSP00000376119:G161C;ENSP00000424095:G161C;ENSP00000282753:G161C;ENSP00000347437:G161C;ENSP00000425599:G161C	ENSP00000282753:G161C	G	+	1	0	GRM1	146392827	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.869000	0.99810	2.679000	0.91253	0.561000	0.74099	GGT		0.572	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		19	30	1	0	1.01871e-10	0.008871	1.57581e-10	19	30				
GRM1	2911	broad.mit.edu	37	6	146480667	146480667	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:146480667C>A	ENST00000282753.1	+	2	1119	c.884C>A	c.(883-885)aCa>aAa	p.T295K	GRM1_ENST00000361719.2_Missense_Mutation_p.T295K|GRM1_ENST00000492807.2_Missense_Mutation_p.T295K|GRM1_ENST00000355289.4_Missense_Mutation_p.T295K|GRM1_ENST00000392299.2_Missense_Mutation_p.T295K|GRM1_ENST00000507907.1_Missense_Mutation_p.T295K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	295					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAAGGCATGACAGTGCGAGGA	0.562																																							uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(883-885)ACA>AAA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						89.0	82.0	85.0					6																	146480667		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480667C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.884C>A	6.37:g.146480667C>A	ENSP00000282753:p.Thr295Lys					GRM1_uc010khu.1_Missense_Mutation_p.T295K|GRM1_uc010khv.1_Missense_Mutation_p.T295K|GRM1_uc003qll.2_Missense_Mutation_p.T295K|GRM1_uc011edz.1_Missense_Mutation_p.T295K|GRM1_uc011eea.1_Missense_Mutation_p.T295K	p.T295K	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1354	+		Ovarian(120;0.0387)	295			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.884C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140145	0.94560	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.71674	0.991;0.993;0.993;0.998	P;P;D;D	0.72625	0.878;0.883;0.925;0.978	D	0.89545	0.3795	10	0.49607	T	0.09	.	18.9966	0.92815	0.0:1.0:0.0:0.0	.	295;295;290;295	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	K	295	ENSP00000354896:T295K;ENSP00000376119:T295K;ENSP00000424095:T295K;ENSP00000282753:T295K;ENSP00000347437:T295K;ENSP00000425599:T295K	ENSP00000282753:T295K	T	+	2	0	GRM1	146522360	1.000000	0.71417	0.948000	0.38648	0.854000	0.48673	7.441000	0.80485	2.495000	0.84180	0.655000	0.94253	ACA		0.562	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		24	37	1	0	6.12954e-19	0.004656	1.11446e-18	24	37				
GRM1	2911	broad.mit.edu	37	6	146720058	146720058	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:146720058G>T	ENST00000282753.1	+	7	2118	c.1883G>T	c.(1882-1884)cGg>cTg	p.R628L	GRM1_ENST00000361719.2_Missense_Mutation_p.R628L|GRM1_ENST00000492807.2_Missense_Mutation_p.R628L|GRM1_ENST00000355289.4_Missense_Mutation_p.R628L|GRM1_ENST00000392299.2_Missense_Mutation_p.R628L|GRM1_ENST00000507907.1_Missense_Mutation_p.R628L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	628					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R628Q(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCTCCAGTCGGGAGCTCTGC	0.507																																							uc010khw.1		NA																	2	Substitution - Missense(2)		kidney(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1882-1884)CGG>CTG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						299.0	242.0	262.0					6																	146720058		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720058G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1883G>T	6.37:g.146720058G>T	ENSP00000282753:p.Arg628Leu					GRM1_uc010khv.1_Missense_Mutation_p.R628L|GRM1_uc003qll.2_Missense_Mutation_p.R628L|GRM1_uc011edz.1_Missense_Mutation_p.R628L|GRM1_uc011eea.1_Missense_Mutation_p.R628L	p.R628L	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2353	+		Ovarian(120;0.0387)	628			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1883G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811362	0.90707	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.81	5.81	0.92471	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.76575	0.988;0.946;0.979	D	0.94854	0.8016	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	628;628;628	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	628	ENSP00000354896:R628L;ENSP00000376119:R628L;ENSP00000424095:R628L;ENSP00000282753:R628L;ENSP00000347437:R628L;ENSP00000425599:R628L	ENSP00000282753:R628L	R	+	2	0	GRM1	146761751	1.000000	0.71417	0.966000	0.40874	0.986000	0.74619	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	CGG		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		36	110	1	0	1.22384e-17	0.002836	2.19464e-17	36	110				
STXBP5	134957	broad.mit.edu	37	6	147685201	147685201	+	Silent	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:147685201A>C	ENST00000321680.6	+	25	2980	c.2980A>C	c.(2980-2982)Aga>Cga	p.R994R	STXBP5_ENST00000179882.6_Silent_p.R649R|STXBP5_ENST00000367480.3_Silent_p.R941R|STXBP5_ENST00000367481.3_Silent_p.R958R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	994					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCGGATAGCCAGAACGTTCTG	0.363																																							uc003qlz.2		NA																	0					0						c.(2980-2982)AGA>CGA		syntaxin binding protein 5 (tomosyn) isoform b							182.0	174.0	177.0					6																	147685201		2203	4300	6503	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685201A>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2980A>C	6.37:g.147685201A>C						STXBP5_uc010khz.1_Silent_p.R958R|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.R649R	p.R994R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	25	3141	+		Ovarian(120;0.0164)	994					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2980A>C	CCDS47499.1																																																																																				0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			13	74	0	0	0	0.004007	0	13	74				
SYNE1	23345	broad.mit.edu	37	6	152668215	152668215	+	Silent	SNP	C	C	A	rs144596829	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:152668215C>A	ENST00000367255.5	-	73	12658	c.12057G>T	c.(12055-12057)gcG>gcT	p.A4019A	SYNE1_ENST00000448038.1_Silent_p.A3948A|SYNE1_ENST00000265368.4_Silent_p.A4019A|SYNE1_ENST00000423061.1_Silent_p.A3948A|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4019					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)		TGCTGCAGATCGCTGAGTAGC	0.488										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.(12055-12057)GCG>GCT		spectrin repeat containing, nuclear envelope 1							162.0	134.0	144.0					6																	152668215		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152668215C>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.12057G>T	6.37:g.152668215C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.A3948A|SYNE1_uc003qou.3_Silent_p.A4019A|SYNE1_uc010kja.1_Silent_p.A724A	p.A4019A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	73	12659	-		Ovarian(120;0.0955)	4019			Spectrin 10.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.12057G>T	CCDS5236.2																																																																																				0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	26	1	0	0.000673444	0.008291	0.00075369	9	26				
NOX3	50508	broad.mit.edu	37	6	155750056	155750056	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:155750056G>T	ENST00000159060.2	-	9	1119	c.1017C>A	c.(1015-1017)acC>acA	p.T339T		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	339	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CAGAGGTAAGGGTGAAGGGGT	0.582																																							uc003qqm.2		NA																	0				ovary(1)	1						c.(1015-1017)ACC>ACA		NADPH oxidase 3							68.0	70.0	69.0					6																	155750056		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750056G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1017C>A	6.37:g.155750056G>T							p.T339T	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1120	-		Breast(66;0.0183)	339			Extracellular (Potential).|FAD-binding FR-type.		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.1017C>A	CCDS5250.1																																																																																				0.582	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			11	60	1	0	6.40141e-05	0.010729	7.65288e-05	11	60				
FNDC1	84624	broad.mit.edu	37	6	159654268	159654268	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:159654268C>G	ENST00000297267.9	+	11	2924	c.2724C>G	c.(2722-2724)gaC>gaG	p.D908E	FNDC1_ENST00000340366.6_Missense_Mutation_p.D845E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	908					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTGGGAGGACTTAAGGAGAA	0.607																																							uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2722-2724)GAC>GAG		fibronectin type III domain containing 1							43.0	51.0	48.0					6																	159654268		1924	4107	6031	SO:0001583	missense	84624					extracellular region		g.chr6:159654268C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2724C>G	6.37:g.159654268C>G	ENSP00000297267:p.Asp908Glu					FNDC1_uc010kjw.1_Missense_Mutation_p.D793E	p.D908E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2924	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	908					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2724C>G	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.293|2.293	-0.361906|-0.361906	0.05103|0.05103	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06449|.	3.3;4.11|.	5.33|5.33	1.19|1.19	0.21007|0.21007	.|.	1.143810|.	0.06310|.	N|.	0.702498|.	T|T	0.05502|0.05502	0.0145|0.0145	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.42531|0.42531	-0.9446|-0.9446	10|5	0.14656|.	T|.	0.56|.	-0.8865|-0.8865	6.8042|6.8042	0.23768|0.23768	0.0:0.5112:0.0:0.4888|0.0:0.5112:0.0:0.4888	.|.	845;908|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	E|V	908;845|804	ENSP00000297267:D908E;ENSP00000342460:D845E|.	ENSP00000297267:D908E|.	D|L	+|+	3|1	2|0	FNDC1|FNDC1	159574258|159574258	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.064000|0.064000	0.16182|0.16182	-0.641000|-0.641000	0.05434|0.05434	-0.086000|-0.086000	0.12550|0.12550	0.655000|0.655000	0.94253|0.94253	GAC|CTT		0.607	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		16	11	0	0	0	0.003163	0	16	11				
MAP3K4	4216	broad.mit.edu	37	6	161470144	161470144	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:161470144G>T	ENST00000392142.4	+	3	988	c.840G>T	c.(838-840)caG>caT	p.Q280H	MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q280H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q280H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q280H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	280					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTAACGACCAGGACTTCTTTT	0.428																																							uc003qtn.2		NA																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(838-840)CAG>CAT		mitogen-activated protein kinase kinase kinase 4							63.0	65.0	65.0					6																	161470144		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470144G>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.840G>T	6.37:g.161470144G>T	ENSP00000375986:p.Gln280His					MAP3K4_uc010kkc.1_Missense_Mutation_p.Q280H|MAP3K4_uc003qto.2_Missense_Mutation_p.Q280H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Translation_Start_Site	p.Q280H	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	982	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	280					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.840G>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076559	0.55753	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	6.16	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.76328	2.33	0.50813	D	0.999891	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.50466	-0.8825	10	0.42905	T	0.14	-33.8054	7.0392	0.25010	0.2994:0.0:0.7005:0.0	.	280;280	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	H	280	ENSP00000355886:Q280H;ENSP00000375986:Q280H;ENSP00000355887:Q280H;ENSP00000297332:Q280H	ENSP00000297332:Q280H	Q	+	3	2	MAP3K4	161390134	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.443000	0.52907	1.530000	0.49136	-0.355000	0.07637	CAG		0.428	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			4	34	1	0	2.56e-06	0.009096	3.32214e-06	4	34				
AGPAT4	56895	broad.mit.edu	37	6	161560499	161560499	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:161560499C>T	ENST00000320285.4	-	8	1209	c.997G>A	c.(997-999)Ggg>Agg	p.G333R	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.G171R	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	333					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AGGGAAGACCCGCTCCTGATC	0.637																																							uc003qtr.1		NA																	0					0						c.(997-999)GGG>AGG		1-acylglycerol-3-phosphate O-acyltransferase 4							115.0	115.0	115.0					6																	161560499		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560499C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.997G>A	6.37:g.161560499C>T	ENSP00000314036:p.Gly333Arg					AGPAT4_uc003qts.1_Missense_Mutation_p.G193R|AGPAT4_uc011egb.1_Missense_Mutation_p.G171R	p.G333R	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1224	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	333					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.997G>A	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093309	0.76756	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.33216	1.42	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.80982	2.52	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.52343	0.696;0.648	T	0.52852	-0.8520	10	0.87932	D	0	-28.8517	18.9231	0.92534	0.0:1.0:0.0:0.0	.	171;333	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	R	333;171	ENSP00000314036:G333R	ENSP00000314036:G333R	G	-	1	0	AGPAT4	161480489	1.000000	0.71417	0.662000	0.29724	0.419000	0.31324	7.494000	0.81503	2.457000	0.83068	0.557000	0.71058	GGG		0.637	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		25	95	0	0	0	0.00333	0	25	95				
C6orf118	168090	broad.mit.edu	37	6	165715190	165715190	+	Silent	SNP	G	G	T	rs369703297		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:165715190G>T	ENST00000230301.8	-	2	641	c.621C>A	c.(619-621)gcC>gcA	p.A207A	C6orf118_ENST00000543069.1_Silent_p.A103A	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	207										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGGTGGCTCCGGCCAGGTAGG	0.602																																							uc003qum.3		NA																	0					0						c.(619-621)GCC>GCA		hypothetical protein LOC168090							59.0	60.0	60.0					6																	165715190		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715190G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.621C>A	6.37:g.165715190G>T						C6orf118_uc011egi.1_RNA	p.A207A	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	657	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	207					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.621C>A	CCDS5288.1																																																																																				0.602	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		12	49	1	0	1.08611e-07	0.010729	1.49384e-07	12	49				
TCP10L2	401285	broad.mit.edu	37	6	167592025	167592025	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:167592025G>C	ENST00000366832.2	+	5	783	c.652G>C	c.(652-654)Gga>Cga	p.G218R		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	218										endometrium(1)|kidney(2)|lung(3)	6						GTCTGAAGACGGAAAGGTGAC	0.507																																							uc010kkp.2		NA																	0					0						c.(652-654)GGA>CGA		t-complex 10-like 2							312.0	261.0	276.0					6																	167592025		692	1590	2282	SO:0001583	missense	401285							g.chr6:167592025G>C		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.652G>C	6.37:g.167592025G>C	ENSP00000355797:p.Gly218Arg						p.G218R	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			5	783	+			218						Missense_Mutation	SNP	ENST00000366832.2	37	c.652G>C	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	g	11.91	1.778322	0.31502	.	.	ENSG00000166984	ENST00000366832	T	0.13420	2.59	2.12	1.16	0.20824	.	.	.	.	.	T	0.07908	0.0198	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.72982	0.979	T	0.21415	-1.0246	9	0.38643	T	0.18	.	6.4342	0.21815	0.0:0.3094:0.6906:0.0	.	218	B9ZVM9	TCP2L_HUMAN	R	218	ENSP00000355797:G218R	ENSP00000283507:G218R	G	+	1	0	TCP10L2	167512015	0.002000	0.14202	0.067000	0.19924	0.203000	0.24098	0.377000	0.20552	0.196000	0.20367	0.162000	0.16502	GGA		0.507	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		7	90	0	0	0	0.006214	0	7	90				
HEATR2	54919	broad.mit.edu	37	7	803466	803466	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:803466G>T	ENST00000297440.6	+	8	1658	c.1638G>T	c.(1636-1638)ctG>ctT	p.L546L	HEATR2_ENST00000313147.5_Silent_p.L546L	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	546						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGGACTCACTGGCCATGGTGG	0.602																																							uc010krz.1		NA																	0				skin(1)	1						c.(1636-1638)CTG>CTT		HEAT repeat containing 2							134.0	112.0	120.0					7																	803466		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:803466G>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1638G>T	7.37:g.803466G>T						HEATR2_uc003siz.2_Silent_p.L414L|HEATR2_uc003sja.2_Silent_p.L4L	p.L546L	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1658	+		Ovarian(82;0.0112)	546					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.1638G>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	0.584	-0.835821	0.02713	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.03	2.75	0.32379	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	-26.4777	4.4819	0.11771	0.2272:0.214:0.5588:0.0	.	.	.	.	C	348	.	.	G	+	1	0	HEATR2	769992	1.000000	0.71417	0.808000	0.32385	0.011000	0.07611	2.540000	0.45727	1.202000	0.43218	0.561000	0.74099	GGC		0.602	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		13	78	1	0	1.05317e-09	0.00245	1.57466e-09	13	78				
EIF3B	8662	broad.mit.edu	37	7	2416670	2416670	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:2416670G>T	ENST00000360876.4	+	15	2170	c.2114G>T	c.(2113-2115)cGg>cTg	p.R705L	EIF3B_ENST00000397011.2_Missense_Mutation_p.R705L	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTGCTGTGGCGGCCCCGGCCT	0.632																																							uc003slx.2		NA																	0					0						c.(2113-2115)CGG>CTG		eukaryotic translation initiation factor 3,							43.0	45.0	45.0					7																	2416670		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2416670G>T	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2114G>T	7.37:g.2416670G>T	ENSP00000354125:p.Arg705Leu					EIF3B_uc003sly.2_Missense_Mutation_p.R705L|EIF3B_uc003sma.2_Missense_Mutation_p.R433L|EIF3B_uc003smb.2_RNA	p.R705L	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	15	2197	+		Ovarian(82;0.0253)	705						Missense_Mutation	SNP	ENST00000360876.4	37	c.2114G>T	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545470	0.86022	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.53857	0.6;0.6	5.82	5.82	0.92795	.	0.082866	0.85682	D	0.000000	T	0.81777	0.4894	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86047	0.1523	10	0.87932	D	0	-29.442	20.1054	0.97890	0.0:0.0:1.0:0.0	.	705	P55884	EIF3B_HUMAN	L	705;705;705;629	ENSP00000354125:R705L;ENSP00000380206:R705L	ENSP00000316638:R705L	R	+	2	0	EIF3B	2383196	1.000000	0.71417	0.982000	0.44146	0.281000	0.26958	9.670000	0.98625	2.757000	0.94681	0.655000	0.94253	CGG		0.632	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			8	25	1	0	1.12685e-05	0.004482	1.40753e-05	8	25				
EIF3B	8662	broad.mit.edu	37	7	2418366	2418366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:2418366C>T	ENST00000360876.4	+	16	2253	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	EIF3B_ENST00000397011.2_Nonsense_Mutation_p.Q733*	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GATCTTTGAACAGAAGGATCG	0.438																																							uc003slx.2		NA																	0					0						c.(2197-2199)CAG>TAG		eukaryotic translation initiation factor 3,							98.0	91.0	94.0					7																	2418366		2203	4300	6503	SO:0001587	stop_gained	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2418366C>T	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2197C>T	7.37:g.2418366C>T	ENSP00000354125:p.Gln733*					EIF3B_uc003sly.2_Nonsense_Mutation_p.Q733*|EIF3B_uc003sma.2_Nonsense_Mutation_p.Q461*|EIF3B_uc003smb.2_RNA	p.Q733*	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	16	2280	+		Ovarian(82;0.0253)	733						Nonsense_Mutation	SNP	ENST00000360876.4	37	c.2197C>T	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	42	9.166045	0.99087	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	.	.	.	5.61	5.61	0.85477	.	0.050306	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-38.1162	19.6435	0.95767	0.0:1.0:0.0:0.0	.	.	.	.	X	733;733;733;657	.	ENSP00000316638:Q733X	Q	+	1	0	EIF3B	2384892	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.673000	0.83973	2.638000	0.89438	0.655000	0.94253	CAG		0.438	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			11	11	0	0	0	0.008291	0	11	11				
CHST12	55501	broad.mit.edu	37	7	2473087	2473087	+	Silent	SNP	C	C	T	rs181720113	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:2473087C>T	ENST00000258711.6	+	2	948	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	271					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCAAGTTCGCCGTGCCCATGC	0.647													C|||	59	0.0117812	0.0	0.0	5008	,	,		16977	0.0099		0.0	False		,,,				2504	0.0501						uc003smc.2		NA																	0				kidney(1)	1						c.(811-813)GCC>GCT		carbohydrate sulfotransferase 12							60.0	54.0	56.0					7																	2473087		2203	4296	6499	SO:0001819	synonymous_variant	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473087C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.813C>T	7.37:g.2473087C>T						CHST12_uc003smd.2_Silent_p.A271A	p.A271A	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	948	+		Ovarian(82;0.0253)	271			Lumenal (Potential).		A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	c.813C>T	CCDS5333.1																																																																																				0.647	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		19	68	0	0	0	0.007413	0	19	68				
SDK1	221935	broad.mit.edu	37	7	4249736	4249736	+	Silent	SNP	G	G	T	rs371054556		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:4249736G>T	ENST00000404826.2	+	38	5620	c.5481G>T	c.(5479-5481)gcG>gcT	p.A1827A	SDK1_ENST00000389531.3_Silent_p.A1807A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1827	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCCTGCGGCGGCCAACGGCA	0.637																																							uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(5479-5481)GCG>GCT		sidekick 1 precursor							40.0	43.0	42.0					7																	4249736		2202	4298	6500	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4249736G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5481G>T	7.37:g.4249736G>T						SDK1_uc010kso.2_Silent_p.A1083A|SDK1_uc003smy.2_Silent_p.A314A	p.A1827A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	38	5620	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1827			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.5481G>T	CCDS34590.1																																																																																				0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		26	51	1	0	3.01185e-09	0.003954	4.44843e-09	26	51				
RSPH10B	222967	broad.mit.edu	37	7	5966163	5966163	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:5966163A>G	ENST00000405415.1	-	20	2835	c.2449T>C	c.(2449-2451)Ttg>Ctg	p.L817L	RSPH10B_ENST00000535104.1_5'Flank|RSPH10B_ENST00000441023.2_Silent_p.L817L|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Silent_p.L817L|RSPH10B_ENST00000404406.1_Silent_p.L817L			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	817										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCCTCTCTCAAGATGAAGATG	0.463																																							uc003sph.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2449-2451)TTG>CTG		radial spoke head 10 homolog B							208.0	170.0	183.0					7																	5966163		2198	4283	6481	SO:0001819	synonymous_variant	728194							g.chr7:5966163A>G		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2449T>C	7.37:g.5966163A>G						RSPH10B2_uc003spg.1_3'UTR|RSPH10B2_uc010ktd.1_Silent_p.L817L	p.L817L	NM_173565	NP_775836	B2RC85	R10B2_HUMAN			21	2720	-			817					A6NMW7|Q86ST9|Q8NE68	Silent	SNP	ENST00000405415.1	37	c.2449T>C	CCDS34598.1																																																																																				0.463	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		30	123	0	0	0	0.002836	0	30	123				
CYTH3	9265	broad.mit.edu	37	7	6217528	6217528	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:6217528T>A	ENST00000350796.3	-	5	430	c.294A>T	c.(292-294)ccA>ccT	p.P98P	Y_RNA_ENST00000458975.1_RNA	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	98	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CGACGTCTTCTGGGGAACTCT	0.443																																							uc003spt.2		NA																	0					0						c.(292-294)CCA>CCT		cytohesin 3							117.0	112.0	114.0					7																	6217528		2203	4300	6503	SO:0001819	synonymous_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6217528T>A	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.294A>T	7.37:g.6217528T>A							p.P98P	NM_004227	NP_004218	O43739	CYH3_HUMAN			5	398	-			98			SEC7.		A4D2N8	Silent	SNP	ENST00000350796.3	37	c.294A>T	CCDS5346.1																																																																																				0.443	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		43	52	0	0	0	0.00874	0	43	52				
C7orf26	79034	broad.mit.edu	37	7	6639514	6639514	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:6639514A>T	ENST00000344417.5	+	4	902	c.635A>T	c.(634-636)gAg>gTg	p.E212V	C7orf26_ENST00000359073.5_Missense_Mutation_p.E193V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	212										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TGGATTTTTGAGGACCCAAGG	0.468																																							uc003sqo.1		NA																	0				ovary(1)	1						c.(634-636)GAG>GTG		hypothetical protein LOC79034							168.0	157.0	160.0					7																	6639514		2203	4300	6503	SO:0001583	missense	79034							g.chr7:6639514A>T	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.635A>T	7.37:g.6639514A>T	ENSP00000340220:p.Glu212Val					C7orf26_uc003sqp.1_Missense_Mutation_p.E193V|C7orf26_uc003sqq.1_Missense_Mutation_p.E13V	p.E212V	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	4	635	+		Ovarian(82;0.232)	212					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.635A>T	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358367	0.61403	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.51071	0.72;0.72	5.08	5.08	0.68730	.	0.087086	0.85682	D	0.000000	T	0.60038	0.2238	M	0.65975	2.015	0.58432	D	0.999995	D;D	0.55385	0.971;0.971	P;P	0.55455	0.696;0.776	T	0.64058	-0.6496	10	0.62326	D	0.03	-38.5895	13.4364	0.61086	1.0:0.0:0.0:0.0	.	193;212	Q96N11-2;Q96N11	.;CG026_HUMAN	V	212;193	ENSP00000340220:E212V;ENSP00000351974:E193V	ENSP00000340220:E212V	E	+	2	0	C7orf26	6606039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.999000	0.93557	2.221000	0.72209	0.454000	0.30748	GAG		0.468	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		72	104	0	0	0	0.00361	0	72	104				
DGKB	1607	broad.mit.edu	37	7	14775792	14775792	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:14775792A>G	ENST00000403951.2	-	5	615	c.196T>C	c.(196-198)Ttc>Ctc	p.F66L	DGKB_ENST00000407950.1_Missense_Mutation_p.F59L|DGKB_ENST00000399322.3_Missense_Mutation_p.F66L|DGKB_ENST00000402815.1_Missense_Mutation_p.F66L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.F66L|DGKB_ENST00000258767.5_Missense_Mutation_p.F66L|DGKB_ENST00000444700.2_Missense_Mutation_p.F59L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	66					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GTCTTCATGAATAGTTTGAAA	0.338																																							uc003ssz.2		NA																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(196-198)TTC>CTC		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						49.0	47.0	48.0					7																	14775792		1807	4081	5888	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14775792A>G	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.196T>C	7.37:g.14775792A>G	ENSP00000385780:p.Phe66Leu					DGKB_uc011jxt.1_Missense_Mutation_p.F59L|DGKB_uc003sta.2_Missense_Mutation_p.F66L|DGKB_uc011jxu.1_Missense_Mutation_p.F66L|DGKB_uc011jxv.1_Missense_Mutation_p.F66L	p.F66L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			4	383	-			66					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.196T>C	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	A	31	5.085334	0.94100	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.73962	2.25	0.49483	D	0.999799	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.81914	0.995;0.994;0.992;0.978	T	0.78846	-0.2043	10	0.87932	D	0	.	15.1359	0.72566	1.0:0.0:0.0:0.0	.	66;59;66;66	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	66;66;66;66;59;59;66;66	ENSP00000385780:F66L;ENSP00000382260:F66L;ENSP00000258767:F66L;ENSP00000384909:F66L;ENSP00000385031:F59L;ENSP00000388451:F59L;ENSP00000386066:F66L;ENSP00000405569:F66L	ENSP00000258767:F66L	F	-	1	0	DGKB	14742317	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.467000	0.80930	2.211000	0.71520	0.460000	0.39030	TTC		0.338	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		3	18	0	0	0	0.009096	0	3	18				
FERD3L	222894	broad.mit.edu	37	7	19184587	19184587	+	Nonsense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:19184587G>C	ENST00000275461.3	-	1	457	c.399C>G	c.(397-399)taC>taG	p.Y133*	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	133	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCCTTTTCTCGTAAGCAAACG	0.587																																							uc003suo.1		NA																	0				large_intestine(1)	1						c.(397-399)TAC>TAG		nephew of atonal 3							126.0	95.0	105.0					7																	19184587		2203	4300	6503	SO:0001587	stop_gained	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184587G>C	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.399C>G	7.37:g.19184587G>C	ENSP00000275461:p.Tyr133*					uc003sun.1_RNA	p.Y133*	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	458	-			133			Helix-loop-helix motif.		Q495K0	Nonsense_Mutation	SNP	ENST00000275461.3	37	c.399C>G	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091547	0.76756	.	.	ENSG00000146618	ENST00000275461	.	.	.	5.66	-1.52	0.08637	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-6.8749	11.4758	0.50297	0.5425:0.0:0.4575:0.0	.	.	.	.	X	133	.	ENSP00000275461:Y133X	Y	-	3	2	FERD3L	19151112	0.998000	0.40836	0.993000	0.49108	0.984000	0.73092	0.486000	0.22340	-0.205000	0.10219	-0.355000	0.07637	TAC		0.587	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			7	32	0	0	0	0.00308	0	7	32				
DNAH11	8701	broad.mit.edu	37	7	21723444	21723444	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:21723444C>G	ENST00000409508.3	+	32	5534	c.5503C>G	c.(5503-5505)Cac>Gac	p.H1835D	DNAH11_ENST00000328843.6_Missense_Mutation_p.H1842D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1842	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAACTTCGTCACCGATGGGA	0.443									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5524-5526)CAC>GAC		dynein, axonemal, heavy chain 11							305.0	285.0	291.0					7																	21723444		1927	4121	6048	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21723444C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5503C>G	7.37:g.21723444C>G	ENSP00000475939:p.His1835Asp						p.H1842D	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			33	5555	+			1842			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5524C>G		.	.	.	.	.	.	.	.	.	.	C	25.2	4.618128	0.87359	.	.	ENSG00000105877	ENST00000328843	T	0.23754	1.89	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56505	-0.7968	9	0.72032	D	0.01	.	19.9467	0.97184	0.0:1.0:0.0:0.0	.	1842	Q96DT5	DYH11_HUMAN	D	1842	ENSP00000330671:H1842D	ENSP00000330671:H1842D	H	+	1	0	DNAH11	21689969	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.776000	0.85560	2.814000	0.96858	0.563000	0.77884	CAC		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		17	155	0	0	0	0.004007	0	17	155				
CCDC126	90693	broad.mit.edu	37	7	23651099	23651099	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:23651099A>T	ENST00000307471.3	+	3	622	c.165A>T	c.(163-165)agA>agT	p.R55S	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.R55S|CCDC126_ENST00000409765.1_Missense_Mutation_p.R55S	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	55					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						TAAGCAAAAGATATGTTAAAG	0.383																																							uc003swl.2		NA																	0				ovary(1)|skin(1)	2						c.(163-165)AGA>AGT		coiled-coil domain containing 126 precursor							126.0	112.0	117.0					7																	23651099		2203	4300	6503	SO:0001583	missense	90693					extracellular region		g.chr7:23651099A>T	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.165A>T	7.37:g.23651099A>T	ENSP00000304355:p.Arg55Ser					CCDC126_uc003swm.2_Missense_Mutation_p.R55S|CCDC126_uc003swn.2_Missense_Mutation_p.R55S	p.R55S	NM_138771	NP_620126	Q96EE4	CC126_HUMAN			3	622	+			55					A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	c.165A>T	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286006	0.59867	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.71	5.71	0.89125	.	0.144833	0.64402	D	0.000010	T	0.69097	0.3073	M	0.71581	2.175	0.53005	D	0.999964	B	0.22414	0.069	B	0.27715	0.082	T	0.68648	-0.5353	9	0.72032	D	0.01	-12.7103	15.9856	0.80151	1.0:0.0:0.0:0.0	.	55	Q96EE4	CC126_HUMAN	S	55	.	ENSP00000304355:R55S	R	+	3	2	CCDC126	23617624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.570000	0.60872	2.180000	0.69256	0.455000	0.32223	AGA		0.383	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		11	30	0	0	0	0.010729	0	11	30				
HOXA1	3198	broad.mit.edu	37	7	27135176	27135176	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:27135176A>T	ENST00000343060.4	-	1	417	c.356T>A	c.(355-357)gTa>gAa	p.V119E	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Splice_Site|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	119					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCACCACTTACGTCTGCTTC	0.567																																							uc003sye.2		NA																	0				ovary(3)	3						c.(355-357)GTA>GAA		homeobox A1 isoform a							79.0	83.0	81.0					7																	27135176		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135176A>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.356T>A	7.37:g.27135176A>T	ENSP00000343246:p.Val119Glu					HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	p.V119E	NM_005522	NP_005513	P49639	HXA1_HUMAN			1	450	-			119					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.356T>A	CCDS5401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.49|13.49	2.252608|2.252608	0.39797|0.39797	.|.	.|.	ENSG00000105991|ENSG00000105991	ENST00000355633|ENST00000343060	.|T	.|0.29917	.|1.55	4.75|4.75	3.56|3.56	0.40772|0.40772	.|.	.|0.745082	.|0.13144	.|N	.|0.410398	.|T	.|0.21631	.|0.0521	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.15484	.|0.013	.|T	.|0.05784	.|-1.0864	.|10	.|0.02654	.|T	.|1	.|.	10.5321|10.5321	0.44983|0.44983	0.8371:0.1629:0.0:0.0|0.8371:0.1629:0.0:0.0	.|.	.|119	.|P49639	.|HXA1_HUMAN	.|E	-1|119	.|ENSP00000343246:V119E	.|ENSP00000343246:V119E	.|V	-|-	.|2	.|0	HOXA1|HOXA1	27101701|27101701	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	5.058000|5.058000	0.64300|0.64300	0.804000|0.804000	0.34136|0.34136	0.260000|0.260000	0.18958|0.18958	.|GTA		0.567	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			36	24	0	0	0	0.004289	0	36	24				
WIPF3	644150	broad.mit.edu	37	7	29915475	29915475	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:29915475G>A	ENST00000409290.1	+	2	120	c.120G>A	c.(118-120)agG>agA	p.R40R	WIPF3_ENST00000242140.5_Silent_p.R40R|WIPF3_ENST00000409123.1_Silent_p.R40R	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	40					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GCTTGCGAAGGGCAGATCCGA	0.527																																							uc003taj.1		NA																	0				ovary(1)	1						c.(118-120)AGG>AGA		WAS/WASL interacting protein family, member 3							63.0	70.0	68.0					7																	29915475		2105	4237	6342	SO:0001819	synonymous_variant	644150							g.chr7:29915475G>A	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.120G>A	7.37:g.29915475G>A							p.R40R	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			2	120	+			40					B8ZZV2	Silent	SNP	ENST00000409290.1	37	c.120G>A	CCDS56472.1																																																																																				0.527	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			5	42	0	0	0	0.000602	0	5	42				
FAM188B	84182	broad.mit.edu	37	7	30825406	30825406	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:30825406C>T	ENST00000265299.6	+	4	538	c.461C>T	c.(460-462)tCa>tTa	p.S154L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	154										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATTTTGTATCATCTAAAAGG	0.428																																							uc003tbt.2		NA																	0					0						c.(460-462)TCA>TTA		hypothetical protein LOC84182							111.0	116.0	114.0					7																	30825406		1844	4095	5939	SO:0001583	missense	84182							g.chr7:30825406C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.461C>T	7.37:g.30825406C>T	ENSP00000265299:p.Ser154Leu					FAM188B_uc010kwe.2_Missense_Mutation_p.S125L	p.S154L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			4	538	+			154					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.461C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555703	0.27827	.	.	ENSG00000106125	ENST00000265299	T	0.46819	0.86	5.19	4.29	0.51040	.	0.831367	0.10842	N	0.628095	T	0.47967	0.1474	M	0.70595	2.14	0.09310	N	1	B	0.28128	0.201	B	0.26310	0.068	T	0.45585	-0.9251	10	0.87932	D	0	-11.4616	9.9459	0.41609	0.0:0.9058:0.0:0.0942	.	154	Q4G0A6	F188B_HUMAN	L	154	ENSP00000265299:S154L	ENSP00000265299:S154L	S	+	2	0	FAM188B	30791931	0.049000	0.20398	0.731000	0.30826	0.060000	0.15804	1.594000	0.36697	2.715000	0.92844	0.650000	0.86243	TCA		0.428	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		16	75	0	0	0	0.003163	0	16	75				
ELMO1	9844	broad.mit.edu	37	7	37354510	37354510	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:37354510G>T	ENST00000310758.4	-	4	783	c.136C>A	c.(136-138)Cat>Aat	p.H46N	ELMO1_ENST00000442504.1_Missense_Mutation_p.H46N|ELMO1_ENST00000448602.1_Missense_Mutation_p.H46N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	46					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAATATTCATGGTTGGCAAGA	0.328																																							uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(136-138)CAT>AAT		engulfment and cell motility 1 isoform 1							97.0	92.0	93.0					7																	37354510		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37354510G>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.136C>A	7.37:g.37354510G>T	ENSP00000312185:p.His46Asn					ELMO1_uc010kxg.1_Missense_Mutation_p.H46N	p.H46N	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			4	443	-			46					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.136C>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466279	0.43839	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.71579	2.6;2.6;2.6;1.6;1.57;-0.58;0.93	4.85	4.85	0.62838	.	0.190462	0.45126	D	0.000391	T	0.61248	0.2332	L	0.34521	1.04	0.80722	D	1	B	0.19583	0.037	B	0.20184	0.028	T	0.56044	-0.8044	10	0.30854	T	0.27	.	16.3012	0.82816	0.0:0.0:1.0:0.0	.	46	Q92556	ELMO1_HUMAN	N	46	ENSP00000312185:H46N;ENSP00000406952:H46N;ENSP00000394458:H46N;ENSP00000406610:H46N;ENSP00000416090:H46N;ENSP00000391734:H46N;ENSP00000397857:H46N	ENSP00000312185:H46N	H	-	1	0	ELMO1	37321035	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.056000	0.49923	2.705000	0.92388	0.650000	0.86243	CAT		0.328	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		10	6	1	0	7.48243e-07	0.006214	9.9376e-07	10	6				
INHBA	3624	broad.mit.edu	37	7	41739856	41739856	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:41739856C>T	ENST00000242208.4	-	2	363	c.117G>A	c.(115-117)gcG>gcA	p.A39A	INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.A39A|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	39					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGCGGCCAGCGCACAGGACG	0.577										TSP Lung(11;0.080)																													uc003thq.2		NA																	0				lung(5)|ovary(1)	6						c.(115-117)GCG>GCA		inhibin beta A precursor							147.0	164.0	158.0					7																	41739856		2203	4300	6503	SO:0001819	synonymous_variant	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739856C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.117G>A	7.37:g.41739856C>T		TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.A39A|LOC285954_uc003ths.2_Intron	p.A39A	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	352	-			39					Q14599	Silent	SNP	ENST00000242208.4	37	c.117G>A	CCDS5464.1																																																																																				0.577	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			105	129	0	0	0	0.00361	0	105	129				
AEBP1	165	broad.mit.edu	37	7	44146316	44146316	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:44146316C>T	ENST00000223357.3	+	2	730	c.425C>T	c.(424-426)cCc>cTc	p.P142L		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	142	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACCAAGAAGCCCAAGGAGAAG	0.632																																							uc003tkb.2		NA																	0					0						c.(424-426)CCC>CTC		adipocyte enhancer binding protein 1 precursor							104.0	108.0	106.0					7																	44146316		2194	4293	6487	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44146316C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.425C>T	7.37:g.44146316C>T	ENSP00000223357:p.Pro142Leu						p.P142L	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			2	730	+			142			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.425C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.797027	0.50208	.	.	ENSG00000106624	ENST00000223357;ENST00000449162	D	0.98178	-4.77	4.69	4.69	0.59074	.	0.286261	0.25086	N	0.033242	D	0.97742	0.9259	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97702	1.0185	10	0.87932	D	0	-20.9273	11.2324	0.48920	0.0:0.9097:0.0:0.0903	.	142	Q8IUX7	AEBP1_HUMAN	L	142;58	ENSP00000223357:P142L	ENSP00000223357:P142L	P	+	2	0	AEBP1	44112841	0.888000	0.30383	0.999000	0.59377	0.970000	0.65996	2.211000	0.42825	2.340000	0.79590	0.462000	0.41574	CCC		0.632	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		5	29	0	0	0	0.000602	0	5	29				
OGDH	4967	broad.mit.edu	37	7	44664004	44664004	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:44664004A>C	ENST00000222673.5	+	2	104	c.62A>C	c.(61-63)aAg>aCg	p.K21T	OGDH_ENST00000449767.1_Missense_Mutation_p.K21T|OGDH_ENST00000444676.1_Missense_Mutation_p.K21T|OGDH_ENST00000443864.2_Missense_Mutation_p.K21T|OGDH_ENST00000439616.2_Missense_Mutation_p.K21T|OGDH_ENST00000543843.1_5'Flank|OGDH_ENST00000447398.1_Missense_Mutation_p.K21T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	21					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CAGACTGTTAAGACATTTTCA	0.438																																							uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(61-63)AAG>ACG		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						166.0	154.0	158.0					7																	44664004		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44664004A>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.62A>C	7.37:g.44664004A>C	ENSP00000222673:p.Lys21Thr					OGDH_uc003tlm.2_Missense_Mutation_p.K21T|OGDH_uc011kbx.1_Missense_Mutation_p.K21T|OGDH_uc011kby.1_Missense_Mutation_p.K21T|OGDH_uc003tlp.2_Missense_Mutation_p.K21T|OGDH_uc011kbz.1_5'UTR	p.K21T	NM_002541	NP_002532	Q02218	ODO1_HUMAN			2	171	+			21					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.62A>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.032636	0.35893	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673	T;T;T;T;T;T;T	0.42513	3.28;0.97;0.97;0.97;0.97;0.97;0.97	4.74	2.37	0.29283	.	0.169690	0.53938	D	0.000054	T	0.18923	0.0454	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.26002	0.079;0.01;0.02;0.01;0.139	B;B;B;B;B	0.21546	0.016;0.028;0.028;0.021;0.035	T	0.05289	-1.0894	10	0.21540	T	0.41	-30.1505	7.4094	0.27009	0.7516:0.0:0.2484:0.0	.	21;21;21;21;21	E9PFG7;E9PBM1;E9PDF2;Q02218;Q96DD3	.;.;.;ODO1_HUMAN;.	T	21	ENSP00000398576:K21T;ENSP00000388084:K21T;ENSP00000392878:K21T;ENSP00000388183:K21T;ENSP00000411830:K21T;ENSP00000414662:K21T;ENSP00000222673:K21T	ENSP00000222673:K21T	K	+	2	0	OGDH	44630529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.185000	0.42584	0.331000	0.23511	0.533000	0.62120	AAG		0.438	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			77	36	0	0	0	0.00361	0	77	36				
TNS3	64759	broad.mit.edu	37	7	47467916	47467916	+	Nonsense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:47467916G>C	ENST00000398879.1	-	9	749	c.383C>G	c.(382-384)tCa>tGa	p.S128*	TNS3_ENST00000442536.2_Nonsense_Mutation_p.S128*|TNS3_ENST00000458317.2_Nonsense_Mutation_p.S128*|TNS3_ENST00000311160.9_Nonsense_Mutation_p.S128*|TNS3_ENST00000355730.3_Nonsense_Mutation_p.S128*			Q68CZ2	TENS3_HUMAN	tensin 3	128	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTACCTGGCTGAGACGTTGGT	0.527																																							uc003tnv.2		NA																	0				ovary(4)	4						c.(382-384)TCA>TGA		tensin 3							108.0	107.0	108.0					7																	47467916		2084	4220	6304	SO:0001587	stop_gained	64759					focal adhesion	protein binding	g.chr7:47467916G>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.383C>G	7.37:g.47467916G>C	ENSP00000381854:p.Ser128*					TNS3_uc003tnw.2_Nonsense_Mutation_p.S128*|TNS3_uc010kyo.1_Nonsense_Mutation_p.S128*	p.S128*	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			9	750	-			128			Phosphatase tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Nonsense_Mutation	SNP	ENST00000398879.1	37	c.383C>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	41	8.694598	0.98918	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317;ENST00000415929	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-22.0955	17.5737	0.87942	0.0:0.0:1.0:0.0	.	.	.	.	X	128;238;128;128;231;217;128;128;128	.	ENSP00000312143:S128X	S	-	2	0	TNS3	47434441	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	8.585000	0.90802	2.736000	0.93811	0.655000	0.94253	TCA		0.527	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		9	28	0	0	0	0.004482	0	9	28				
PKD1L1	168507	broad.mit.edu	37	7	47933617	47933617	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:47933617C>A	ENST00000289672.2	-	15	2361	c.2311G>T	c.(2311-2313)Gtg>Ttg	p.V771L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	771	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCAGGCCCACACAGTAGTTG	0.587																																							uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(2311-2313)GTG>TTG		polycystin-1L1							90.0	68.0	75.0					7																	47933617		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933617C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2311G>T	7.37:g.47933617C>A	ENSP00000289672:p.Val771Leu						p.V771L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			15	2311	-			771			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2311G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	19.87	3.908249	0.72868	.	.	ENSG00000158683	ENST00000289672	T	0.70164	-0.46	5.23	5.23	0.72850	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.000000	0.46145	D	0.000308	T	0.64080	0.2566	L	0.34521	1.04	0.33642	D	0.607314	P	0.47604	0.898	P	0.48114	0.567	T	0.72750	-0.4199	10	0.39692	T	0.17	-19.8033	16.3617	0.83270	0.0:1.0:0.0:0.0	.	771	Q8TDX9	PK1L1_HUMAN	L	771	ENSP00000289672:V771L	ENSP00000289672:V771L	V	-	1	0	PKD1L1	47900142	0.533000	0.26354	0.378000	0.26068	0.736000	0.42039	1.821000	0.39041	2.462000	0.83206	0.543000	0.68304	GTG		0.587	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		29	11	1	0	1.06647e-15	0.003755	1.86523e-15	29	11				
VWC2	375567	broad.mit.edu	37	7	49842402	49842402	+	Nonsense_Mutation	SNP	C	C	A	rs147623371	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:49842402C>A	ENST00000340652.4	+	3	1348	c.792C>A	c.(790-792)taC>taA	p.Y264*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	264	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)		p.Y264Y(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						ACCCTGTGTACGAGCCTGATC	0.572																																							uc003tot.1		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(790-792)TAC>TAA		von Willebrand factor C domain containing 2							276.0	182.0	214.0					7																	49842402		2203	4300	6503	SO:0001587	stop_gained	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842402C>A	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.792C>A	7.37:g.49842402C>A	ENSP00000341819:p.Tyr264*						p.Y264*	NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN			3	1348	+			264			VWFC 2.		Q6UXE2	Nonsense_Mutation	SNP	ENST00000340652.4	37	c.792C>A	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	C	41	9.117481	0.99071	.	.	ENSG00000188730	ENST00000340652	.	.	.	5.32	-1.41	0.08941	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8349	0.46681	0.0:0.2901:0.0:0.7099	.	.	.	.	X	264	.	ENSP00000341819:Y264X	Y	+	3	2	VWC2	49812948	0.005000	0.15991	0.997000	0.53966	0.944000	0.59088	-1.074000	0.03427	-0.091000	0.12440	-0.806000	0.03193	TAC		0.572	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		10	74	1	0	4.68919e-08	0.008291	6.60997e-08	10	74				
EGFR	1956	broad.mit.edu	37	7	55266471	55266471	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:55266471C>A	ENST00000275493.2	+	23	2940	c.2763C>A	c.(2761-2763)agC>agA	p.S921R	EGFR_ENST00000454757.2_Missense_Mutation_p.S868R|EGFR_ENST00000455089.1_Missense_Mutation_p.S876R|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	921	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S921R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCCCTGCCAGCGAGATCTCCT	0.512		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1	Substitution - Missense(1)	p.S921R(1)	lung(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2761-2763)AGC>AGA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						156.0	136.0	143.0					7																	55266471		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55266471C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2763C>A	7.37:g.55266471C>A	ENSP00000275493:p.Ser921Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.S876R|EGFR_uc011kco.1_Missense_Mutation_p.S868R	p.S921R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		23	3009	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		921			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2763C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.920230	0.00498	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82984	-1.67;-1.67;-1.67	5.13	-1.18	0.09617	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.036011	0.85682	N	0.000000	T	0.63283	0.2498	L	0.31420	0.93	0.49130	D	0.999755	B;B	0.23377	0.084;0.045	B;B	0.22386	0.004;0.039	T	0.53330	-0.8454	10	0.02654	T	1	.	5.5705	0.17194	0.0:0.2861:0.1336:0.5803	.	876;921	Q504U8;P00533	.;EGFR_HUMAN	R	876;791;921;868	ENSP00000415559:S876R;ENSP00000275493:S921R;ENSP00000395243:S868R	ENSP00000275493:S921R	S	+	3	2	EGFR	55233965	0.838000	0.29461	0.918000	0.36340	0.003000	0.03518	-0.104000	0.10923	-0.361000	0.08125	-0.502000	0.04539	AGC		0.512	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		14	94	1	0	7.93312e-07	0.00245	1.05115e-06	14	94				
FKBP9P1	360132	broad.mit.edu	37	7	55755566	55755566	+	RNA	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:55755566C>G	ENST00000455909.1	-	0	440				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						CCATCCCCAACACAACTTGCC	0.512																																							uc010kzl.2		NA																	0					0						c.(325-327)GTG>GTC		SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8);							117.0	116.0	116.0					7																	55755566		692	1591	2283			360132							g.chr7:55755566C>G																													7.37:g.55755566C>G						FKBP9L_uc010kzk.2_5'UTR|FKBP9L_uc003tqt.2_5'UTR|FKBP9L_uc011kcs.1_5'UTR	p.V109V	NR_003949						4	427	-								B2R7H1	Silent	SNP	ENST00000455909.1	37	c.327G>C																																																																																					0.512	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			21	84	0	0	0	0.00278	0	21	84				
FKBP9P1	360132	broad.mit.edu	37	7	55766717	55766717	+	IGR	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:55766717C>A								FKBP9L (9723 upstream) : RNU6-1126P (90343 downstream)																							TCTCCATACCCCAGGTGAGGG	0.522																																							uc010kzl.2		NA																	0					0						c.(67-69)GGG>TGG		SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8);																																				SO:0001628	intergenic_variant	360132							g.chr7:55766717C>A																													7.37:g.55766717C>A							p.G23W	NR_003949						2	167	-									Missense_Mutation	SNP		37	c.67G>T																																																																																				0	0.522									12	16	1	0	1.08611e-07	0.010729	1.49384e-07	12	16				
ZNF716	441234	broad.mit.edu	37	7	57528796	57528796	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:57528796A>T	ENST00000420713.1	+	4	741	c.629A>T	c.(628-630)gAg>gTg	p.E210V		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATACTAGGGAGAAGTCTTAC	0.353																																							uc011kdi.1		NA																	0				ovary(2)	2						c.(628-630)GAG>GTG		zinc finger protein 716							48.0	43.0	45.0					7																	57528796		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528796A>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.629A>T	7.37:g.57528796A>T	ENSP00000394248:p.Glu210Val						p.E210V	NM_001159279	NP_001152751					4	741	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.629A>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836242	0.32421	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.26810	1.71	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36608	0.0973	L	0.49640	1.575	0.34683	D	0.724933	D	0.76494	0.999	D	0.85130	0.997	T	0.46569	-0.9182	9	0.46703	T	0.11	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	.	198	A6NP11	ZN716_HUMAN	V	210;198	ENSP00000394248:E210V	ENSP00000387687:E198V	E	+	2	0	ZNF716	57532738	0.995000	0.38212	0.004000	0.12327	0.004000	0.04260	4.264000	0.58859	0.257000	0.21650	0.254000	0.18369	GAG		0.353	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		10	11	0	0	0	0.006214	0	10	11				
ZNF679	168417	broad.mit.edu	37	7	63727040	63727040	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:63727040G>T	ENST00000421025.1	+	5	1298	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	ZNF679_ENST00000255746.4_Missense_Mutation_p.K343N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	343					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(3)|lung(11)|skin(1)|stomach(1)	18						AGAAACATAAGATAATTCATA	0.403																																							uc003tsx.2		NA																	0				skin(1)	1						c.(1027-1029)AAG>AAT		zinc finger protein 679							31.0	32.0	32.0					7																	63727040		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727040G>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1029G>T	7.37:g.63727040G>T	ENSP00000416809:p.Lys343Asn						p.K343N	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			5	1298	+			343			C2H2-type 7.			Missense_Mutation	SNP	ENST00000421025.1	37	c.1029G>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	8.401	0.841938	0.16963	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.07567	3.18;3.18	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11580	0.0282	N	0.20483	0.58	0.22933	N	0.998547	D	0.76494	0.999	D	0.74674	0.984	T	0.22382	-1.0218	9	0.62326	D	0.03	.	3.2503	0.06812	0.3467:0.0:0.6532:0.0	.	343	Q8IYX0	ZN679_HUMAN	N	343	ENSP00000416809:K343N;ENSP00000255746:K343N	ENSP00000255746:K343N	K	+	3	2	ZNF679	63364475	0.000000	0.05858	0.388000	0.26195	0.388000	0.30384	0.537000	0.23144	0.191000	0.20236	0.194000	0.17425	AAG		0.403	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		8	19	1	0	0.000157383	0.00308	0.000182879	8	19				
ZNF273	10793	broad.mit.edu	37	7	64388439	64388439	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:64388439C>A	ENST00000476120.1	+	4	804	c.733C>A	c.(733-735)Cag>Aag	p.Q245K	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.Q180K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGCCTTTAACCAGTTCTCAAA	0.353																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	uc003tto.2		NA																	0					0						c.(733-735)CAG>AAG		zinc finger protein 273							62.0	68.0	66.0					7																	64388439		2203	4296	6499	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388439C>A	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.733C>A	7.37:g.64388439C>A	ENSP00000418719:p.Gln245Lys					ZNF273_uc003ttl.2_Missense_Mutation_p.Q180K|ZNF273_uc003ttn.2_Missense_Mutation_p.Q180K	p.Q245K	NM_021148	NP_066971	Q14593	ZN273_HUMAN			4	809	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	245			C2H2-type 2.		B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.733C>A	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	0.679	-0.799111	0.02841	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07327	3.2;3.2	1.16	0.155	0.14906	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	L	0.39692	1.235	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.45071	-0.9286	9	0.27082	T	0.32	.	1.8405	0.03149	0.3258:0.4391:0.0:0.235	.	245	Q14593	ZN273_HUMAN	K	245;180	ENSP00000418719:Q245K;ENSP00000324518:Q180K	ENSP00000324518:Q180K	Q	+	1	0	ZNF273	64025874	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-3.705000	0.00388	-0.999000	0.03442	-0.990000	0.02549	CAG		0.353	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			12	73	1	0	3.07112e-06	0.010729	3.94924e-06	12	73				
WBSCR17	64409	broad.mit.edu	37	7	71135054	71135054	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:71135054C>A	ENST00000333538.5	+	8	1998	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	455					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATGTTTACCCAGAAATGAGA	0.428																																							uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1363-1365)CCA>CAA		UDP-GalNAc:polypeptide							189.0	185.0	187.0					7																	71135054		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135054C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1364C>A	7.37:g.71135054C>A	ENSP00000329654:p.Pro455Gln					WBSCR17_uc003tvz.2_Missense_Mutation_p.P154Q	p.P455Q	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			8	1364	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	455			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1364C>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744883	0.89663	.	.	ENSG00000185274	ENST00000333538	D	0.88277	-2.36	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96500	0.8858	H	0.97077	3.935	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.97920	1.0314	10	0.72032	D	0.01	.	17.3746	0.87389	0.0:1.0:0.0:0.0	.	455	Q6IS24	GLTL3_HUMAN	Q	455	ENSP00000329654:P455Q	ENSP00000329654:P455Q	P	+	2	0	WBSCR17	70772990	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.818000	0.86416	2.346000	0.79739	0.591000	0.81541	CCA		0.428	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		58	128	1	0	6.60958e-23	0.00361	1.24295e-22	58	128				
NCF1	653361	broad.mit.edu	37	7	74191693	74191693	+	Splice_Site	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:74191693T>A	ENST00000289473.4	+	2	223	c.153T>A	c.(151-153)caT>caA	p.H51Q	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	51	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	ACGAGTTCCATGTGAGTGTGG	0.587																																							uc003ubb.2		NA																	0				skin(1)	1						c.(151-153)CAT>CAA		neutrophil cytosolic factor 1							25.0	26.0	25.0					7																	74191693		2201	4278	6479	SO:0001630	splice_region_variant	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74191693T>A	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.153+1T>A	7.37:g.74191693T>A						NCF1_uc010lbs.1_Missense_Mutation_p.H51Q|NCF1_uc011kfh.1_Missense_Mutation_p.H51Q	p.H51Q	NM_000265	NP_000256	P14598	NCF1_HUMAN			2	223	+			51			PX.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.153T>A	CCDS34657.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	t|t|t	13.64|13.64|13.64	2.298388|2.298388|2.298388	0.40694|0.40694|0.40694	.|.|.	.|.|.	ENSG00000158517|ENSG00000158517|ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000442021|ENST00000439439|ENST00000471594	T;T;T|.|.	0.72167|.|.	0.77;0.77;-0.63|.|.	4.57|4.57|4.57	0.461|0.461|0.461	0.16689|0.16689|0.16689	Phox homologous domain (5);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.57799|0.57799|0.57799	0.2078|0.2078|0.2078	L|L|L	0.50919|0.50919|0.50919	1.6|1.6|1.6	0.54753|0.54753|0.54753	D|D|D	0.999989|0.999989|0.999989	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0|.|.	T|T|T	0.57230|0.57230|0.57230	-0.7847|-0.7847|-0.7847	10|6|6	0.11794|0.62326|0.72032	T|D|D	0.64|0.03|0.01	-47.1008|-47.1008|-47.1008	8.3087|8.3087|8.3087	0.32058|0.32058|0.32058	0.0:0.4085:0.0:0.5915|0.0:0.4085:0.0:0.5915|0.0:0.4085:0.0:0.5915	.|.|.	51;51;51|.|.	B4E3W8;P14598-2;P14598|.|.	.;.;NCF1_HUMAN|.|.	Q|K|T	51;51;27|1|51	ENSP00000289473:H51Q;ENSP00000392870:H51Q;ENSP00000401935:H27Q|.|.	ENSP00000289473:H51Q|ENSP00000402743:M1K|ENSP00000441809:S51T	H|M|S	+|+|+	3|2|1	2|0|0	NCF1|NCF1|NCF1	73829629|73829629|73829629	0.016000|0.016000|0.016000	0.18221|0.18221|0.18221	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.353000|0.353000|0.353000	0.29299|0.29299|0.29299	-1.206000|-1.206000|-1.206000	0.03011|0.03011|0.03011	0.115000|0.115000|0.115000	0.18071|0.18071|0.18071	-0.511000|-0.511000|-0.511000	0.04467|0.04467|0.04467	CAT|ATG|TCT		0.587	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265	Missense_Mutation	9	22	0	0	0	0.008291	0	9	22				
DTX2	113878	broad.mit.edu	37	7	76112351	76112351	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:76112351C>T	ENST00000324432.5	+	5	1305	c.795C>T	c.(793-795)aaC>aaT	p.N265N	DTX2_ENST00000430490.2_Silent_p.N265N|DTX2_ENST00000446820.2_Silent_p.N265N|DTX2_ENST00000413936.2_Silent_p.N265N|DTX2_ENST00000446600.1_Silent_p.N174N|DTX2_ENST00000307569.8_Silent_p.N265N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	265					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACACCACCAACGCCTGGGGCG	0.672																																							uc003uff.3		NA																	0				ovary(1)|skin(1)	2						c.(793-795)AAC>AAT		deltex 2 isoform a							62.0	73.0	69.0					7																	76112351		2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112351C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.795C>T	7.37:g.76112351C>T						DTX2_uc011kgk.1_Silent_p.N174N|DTX2_uc003ufg.3_Silent_p.N265N|DTX2_uc003ufh.3_Silent_p.N265N|DTX2_uc003ufj.3_Silent_p.N265N	p.N265N	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			5	1351	+			265					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.795C>T	CCDS5587.1																																																																																				0.672	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			12	176	0	0	0	0.001368	0	12	176				
MAGI2	9863	broad.mit.edu	37	7	79082430	79082430	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:79082430C>G	ENST00000354212.4	-	1	460	c.207G>C	c.(205-207)gtG>gtC	p.V69V	MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000419488.1_Silent_p.V69V|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2_ENST00000522391.1_Silent_p.V69V|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	69	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGTCTCGTTCACCTCCAGCA	0.622																																							uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(205-207)GTG>GTC		membrane associated guanylate kinase, WW and PDZ							51.0	55.0	54.0					7																	79082430		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082430C>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.207G>C	7.37:g.79082430C>G						MAGI2_uc003ugy.2_Silent_p.V69V|uc010lea.1_5'Flank	p.V69V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			1	461	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	69			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.207G>C	CCDS5594.1																																																																																				0.622	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		18	48	0	0	0	0.007413	0	18	48				
MAGI2	9863	broad.mit.edu	37	7	79082635	79082635	+	Start_Codon_SNP	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:79082635A>G	ENST00000354212.4	-	1	255	c.2T>C	c.(1-3)aTg>aCg	p.M1T	MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000419488.1_Start_Codon_SNP_p.M1T|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2_ENST00000522391.1_Start_Codon_SNP_p.M1T|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTTTTGGACATGGCAGTGGG	0.587																																							uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1-3)ATG>ACG		membrane associated guanylate kinase, WW and PDZ							63.0	72.0	69.0					7																	79082635		2203	4300	6503	SO:0001582	initiator_codon_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082635A>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2T>C	7.37:g.79082635A>G	ENSP00000346151:p.Met1Thr					MAGI2_uc003ugy.2_Missense_Mutation_p.M1T|uc010lea.1_5'Flank	p.M1T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			1	256	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2T>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673039	0.47781	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.20738	2.06;2.09;2.05	4.95	4.95	0.65309	.	.	.	.	.	T	0.41534	0.1163	.	.	.	0.80722	D	1	B;P	0.50156	0.02;0.932	B;P	0.58391	0.023;0.838	T	0.37686	-0.9695	8	0.87932	D	0	.	13.7752	0.63048	1.0:0.0:0.0:0.0	.	1;1	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	1	ENSP00000405766:M1T;ENSP00000346151:M1T;ENSP00000428389:M1T	ENSP00000346151:M1T	M	-	2	0	MAGI2	78920571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.088000	0.94132	1.849000	0.53698	0.402000	0.26972	ATG		0.587	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	Missense_Mutation	11	95	0	0	0	0.001368	0	11	95				
HGF	3082	broad.mit.edu	37	7	81386553	81386553	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:81386553C>A	ENST00000222390.5	-	4	660	c.434G>T	c.(433-435)aGt>aTt	p.S145I	HGF_ENST00000453018.1_Missense_Mutation_p.S42I|HGF_ENST00000444829.2_Missense_Mutation_p.S145I|HGF_ENST00000457544.2_Missense_Mutation_p.S145I|HGF_ENST00000354224.6_Missense_Mutation_p.S145I|HGF_ENST00000423064.2_Missense_Mutation_p.S145I|HGF_ENST00000453411.1_Missense_Mutation_p.S145I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	145	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTTGATGCCACTCTTAGTGAT	0.378																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(433-435)AGT>ATT		hepatocyte growth factor isoform 1							193.0	175.0	181.0					7																	81386553		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81386553C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.434G>T	7.37:g.81386553C>A	ENSP00000222390:p.Ser145Ile					HGF_uc003uhm.2_Missense_Mutation_p.S145I|HGF_uc003uhn.1_Missense_Mutation_p.S145I|HGF_uc003uho.1_Missense_Mutation_p.S145I|HGF_uc003uhp.2_Missense_Mutation_p.S145I	p.S145I	NM_000601	NP_000592	P14210	HGF_HUMAN			4	599	-			145			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.434G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047822	0.75846	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018	T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.06	5.06	0.68205	Kringle (5);Kringle-like fold (1);	0.134335	0.64402	D	0.000003	D	0.86760	0.6010	H	0.95574	3.69	0.44611	D	0.997587	D;D;D;D;D	0.76494	0.999;0.993;0.993;0.994;0.998	D;P;D;P;D	0.64687	0.914;0.873;0.923;0.806;0.928	D	0.90998	0.4840	10	0.72032	D	0.01	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	180;145;145;145;145	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	I	145;145;145;145;145;145;145;42	ENSP00000222390:S145I;ENSP00000391238:S145I;ENSP00000389854:S145I;ENSP00000408270:S145I;ENSP00000413829:S145I;ENSP00000346164:S145I;ENSP00000395468:S42I	ENSP00000222390:S145I	S	-	2	0	HGF	81224489	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.631000	0.54280	2.346000	0.79739	0.655000	0.94253	AGT		0.378	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		22	48	1	0	2.98393e-07	0.00278	4.05166e-07	22	48				
HGF	3082	broad.mit.edu	37	7	81386583	81386583	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:81386583C>A	ENST00000222390.5	-	4	630	c.404G>T	c.(403-405)aGc>aTc	p.S135I	HGF_ENST00000453018.1_Missense_Mutation_p.S32I|HGF_ENST00000444829.2_Missense_Mutation_p.S135I|HGF_ENST00000457544.2_Missense_Mutation_p.S135I|HGF_ENST00000354224.6_Missense_Mutation_p.S135I|HGF_ENST00000423064.2_Missense_Mutation_p.S135I|HGF_ENST00000453411.1_Missense_Mutation_p.S135I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	135	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCCCTTGTAGCTGCGTCCTTT	0.363																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(403-405)AGC>ATC		hepatocyte growth factor isoform 1							179.0	160.0	166.0					7																	81386583		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81386583C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.404G>T	7.37:g.81386583C>A	ENSP00000222390:p.Ser135Ile					HGF_uc003uhm.2_Missense_Mutation_p.S135I|HGF_uc003uhn.1_Missense_Mutation_p.S135I|HGF_uc003uho.1_Missense_Mutation_p.S135I|HGF_uc003uhp.2_Missense_Mutation_p.S135I	p.S135I	NM_000601	NP_000592	P14210	HGF_HUMAN			4	569	-			135			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.404G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538824	0.65085	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881	T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;1.39	4.89	4.01	0.46588	Kringle (5);Kringle-like fold (1);	0.261323	0.44688	D	0.000429	T	0.76292	0.3967	M	0.87097	2.86	0.37936	D	0.932162	D;D;P;P;P	0.76494	0.999;0.985;0.92;0.86;0.935	D;P;P;P;P	0.65323	0.934;0.698;0.61;0.487;0.803	T	0.78899	-0.2022	10	0.62326	D	0.03	.	5.9453	0.19215	0.0:0.6548:0.0:0.3452	.	170;135;135;135;135	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	I	135;135;135;135;135;135;135;32;135	ENSP00000222390:S135I;ENSP00000391238:S135I;ENSP00000389854:S135I;ENSP00000408270:S135I;ENSP00000413829:S135I;ENSP00000346164:S135I;ENSP00000395468:S32I;ENSP00000396307:S135I	ENSP00000222390:S135I	S	-	2	0	HGF	81224519	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.655000	0.37345	1.056000	0.40484	0.655000	0.94253	AGC		0.363	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		6	62	1	0	1.12685e-05	0.004482	1.40753e-05	6	62				
HGF	3082	broad.mit.edu	37	7	81388113	81388113	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:81388113C>A	ENST00000222390.5	-	3	488	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.V88F|HGF_ENST00000457544.2_Missense_Mutation_p.V88F|HGF_ENST00000354224.6_Missense_Mutation_p.V88F|HGF_ENST00000423064.2_Missense_Mutation_p.V88F|HGF_ENST00000453411.1_Missense_Mutation_p.V88F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	88	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTATCAAAAACAAAAGCCCTG	0.338																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(262-264)GTT>TTT		hepatocyte growth factor isoform 1							65.0	66.0	66.0					7																	81388113		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388113C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.262G>T	7.37:g.81388113C>A	ENSP00000222390:p.Val88Phe					HGF_uc003uhm.2_Missense_Mutation_p.V88F|HGF_uc003uhn.1_Missense_Mutation_p.V88F|HGF_uc003uho.1_Missense_Mutation_p.V88F|HGF_uc003uhp.2_Missense_Mutation_p.V88F	p.V88F	NM_000601	NP_000592	P14210	HGF_HUMAN			3	427	-			88			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.262G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300049	0.23650	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.33	5.33	0.75918	PAN-1 domain (1);Apple-like (2);	0.369304	0.30890	N	0.008663	D	0.88202	0.6373	N	0.22421	0.69	0.40078	D	0.976097	D;B;B;P;P	0.69078	0.997;0.448;0.448;0.871;0.95	P;B;B;P;P	0.58873	0.847;0.378;0.316;0.57;0.676	D	0.84507	0.0620	10	0.10111	T	0.7	.	19.0031	0.92841	0.0:1.0:0.0:0.0	.	123;88;88;88;88	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	F	88	ENSP00000222390:V88F;ENSP00000391238:V88F;ENSP00000389854:V88F;ENSP00000408270:V88F;ENSP00000413829:V88F;ENSP00000346164:V88F;ENSP00000396307:V88F;ENSP00000388592:V88F	ENSP00000222390:V88F	V	-	1	0	HGF	81226049	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	3.268000	0.51585	2.491000	0.84063	0.591000	0.81541	GTT		0.338	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		22	32	1	0	9.62636e-23	0.002299	1.80031e-22	22	32				
CACNA2D1	781	broad.mit.edu	37	7	81596490	81596490	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:81596490T>A	ENST00000356253.5	-	31	2788	c.2533A>T	c.(2533-2535)Agt>Tgt	p.S845C	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S833C|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S45C			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	845					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTACGTCACTGTTTCTTTTG	0.303																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(2497-2499)AGT>TGT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						73.0	72.0	72.0					7																	81596490		2201	4294	6495	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81596490T>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2533A>T	7.37:g.81596490T>A	ENSP00000348589:p.Ser845Cys					CACNA2D1_uc011kgy.1_Missense_Mutation_p.S45C	p.S833C	NM_000722	NP_000713	P54289	CA2D1_HUMAN			31	2753	-			845			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2497A>T		.	.	.	.	.	.	.	.	.	.	T	19.16	3.774254	0.69992	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.72282	-0.64;-0.64;-0.64	5.31	5.31	0.75309	.	0.340739	0.36815	N	0.002386	T	0.80088	0.4559	L	0.53249	1.67	0.29164	N	0.87755	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.927	T	0.77088	-0.2717	10	0.66056	D	0.02	-23.964	14.4354	0.67277	0.0:0.0:0.0:1.0	.	45;833	B7Z658;P54289-2	.;.	C	833;852;845;45	ENSP00000349320:S833C;ENSP00000348589:S845C;ENSP00000443124:S45C	ENSP00000284088:S852C	S	-	1	0	CACNA2D1	81434426	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.963000	0.49184	2.005000	0.58758	0.482000	0.46254	AGT		0.303	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				3	22	0	0	0	0.009096	0	3	22				
PCLO	27445	broad.mit.edu	37	7	82545187	82545187	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:82545187C>G	ENST00000333891.9	-	7	12452	c.12115G>C	c.(12115-12117)Gat>Cat	p.D4039H	PCLO_ENST00000437081.1_Missense_Mutation_p.D759H|PCLO_ENST00000423517.2_Missense_Mutation_p.D4039H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTATGGTGATCAATATCTGCA	0.403																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(12115-12117)GAT>CAT		piccolo isoform 1							133.0	125.0	127.0					7																	82545187		1955	4151	6106	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545187C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12115G>C	7.37:g.82545187C>G	ENSP00000334319:p.Asp4039His					PCLO_uc003uhv.2_Missense_Mutation_p.D4039H|PCLO_uc010lec.2_Missense_Mutation_p.D1004H	p.D4039H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12404	-			3970						Missense_Mutation	SNP	ENST00000333891.9	37	c.12115G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449066	0.63178	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19938	2.11;2.11	5.85	5.85	0.93711	.	.	.	.	.	T	0.44095	0.1277	L	0.55481	1.735	0.53688	D	0.999975	D;D;D	0.76494	0.983;0.999;0.999	P;D;D	0.66351	0.65;0.943;0.943	T	0.18272	-1.0342	9	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3970;4039;4039	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	4039;4039;759	ENSP00000334319:D4039H;ENSP00000388393:D4039H	ENSP00000334319:D4039H	D	-	1	0	PCLO	82383123	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.767000	0.95098	0.563000	0.77884	GAT		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		31	61	0	0	0	0.007291	0	31	61				
SEMA3E	9723	broad.mit.edu	37	7	83036427	83036427	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:83036427C>A	ENST00000307792.3	-	7	1266	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G207W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CAGAGTCGCCCGACCCTGGTG	0.393																																							uc003uhy.1		NA																	0				ovary(3)	3						c.(799-801)GGG>TGG		semaphorin 3E precursor							105.0	101.0	102.0					7																	83036427		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83036427C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.799G>T	7.37:g.83036427C>A	ENSP00000303212:p.Gly267Trp						p.G267W	NM_012431	NP_036563	O15041	SEM3E_HUMAN			7	1265	-		Medulloblastoma(109;0.109)	267			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.799G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541876	0.85917	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.25414	1.8;1.8	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054484	0.64402	D	0.000001	T	0.59609	0.2206	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65853	-0.6067	10	0.87932	D	0	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	267	O15041	SEM3E_HUMAN	W	267;207;267	ENSP00000303212:G267W;ENSP00000405052:G207W	ENSP00000303212:G267W	G	-	1	0	SEMA3E	82874363	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.696000	0.84270	2.707000	0.92482	0.544000	0.68410	GGG		0.393	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		18	46	1	0	1.15919e-05	0.008871	1.44686e-05	18	46				
CROT	54677	broad.mit.edu	37	7	87021880	87021880	+	Splice_Site	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:87021880A>T	ENST00000331536.3	+	15	1610		c.e15-1		CROT_ENST00000442291.1_Splice_Site|CROT_ENST00000419147.2_Splice_Site	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTTTTAATACAGCTTCGTGAG	0.343																																							uc003uit.2		NA																	0				ovary(2)|lung(1)	3						c.e15-2		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						110.0	117.0	115.0					7																	87021880		2201	4298	6499	SO:0001630	splice_region_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87021880A>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1426-1A>T	7.37:g.87021880A>T						CROT_uc003uiu.2_Splice_Site_p.L504_splice	p.L476_splice	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			15	1671	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)							A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Splice_Site	SNP	ENST00000331536.3	37	c.1426_splice	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256063	0.80246	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3839	0.83495	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CROT	86859816	1.000000	0.71417	0.986000	0.45419	0.839000	0.47603	7.325000	0.79124	2.258000	0.74832	0.533000	0.62120	.		0.343	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	Intron	20	113	0	0	0	0.010504	0	20	113				
ABCB4	5244	broad.mit.edu	37	7	87037415	87037415	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:87037415A>G	ENST00000265723.4	-	25	3328	c.3217T>C	c.(3217-3219)Tgt>Cgt	p.C1073R	ABCB4_ENST00000545634.1_Missense_Mutation_p.C1073R|ABCB4_ENST00000453593.1_Missense_Mutation_p.C1026R|ABCB4_ENST00000359206.3_Missense_Mutation_p.C1073R|ABCB4_ENST00000358400.3_Missense_Mutation_p.C1026R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1073	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTCTTCCCACAGCCACTGCTG	0.572																																							uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(3217-3219)TGT>CGT		ATP-binding cassette, subfamily B, member 4							87.0	87.0	87.0					7																	87037415		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87037415A>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3217T>C	7.37:g.87037415A>G	ENSP00000265723:p.Cys1073Arg					ABCB4_uc003uiw.1_Missense_Mutation_p.C1073R|ABCB4_uc003uix.1_Missense_Mutation_p.C1026R	p.C1073R	NM_018849	NP_061337	P21439	MDR3_HUMAN			25	3293	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1073			ABC transporter 2.|Cytoplasmic (By similarity).|ATP 2 (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3217T>C	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473892	0.84640	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.19	5.19	0.71726	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.099950	0.64402	D	0.000001	D	0.96463	0.8846	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.999	D	0.97070	0.9777	10	0.87932	D	0	-12.1918	15.3491	0.74368	1.0:0.0:0.0:0.0	.	1026;1073;1073	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	1073;1026;1073;1026;1073	ENSP00000352135:C1073R;ENSP00000351172:C1026R;ENSP00000265723:C1073R;ENSP00000392983:C1026R;ENSP00000437465:C1073R	ENSP00000265723:C1073R	C	-	1	0	ABCB4	86875351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.231000	0.95317	2.083000	0.62718	0.533000	0.62120	TGT		0.572	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		26	73	0	0	0	0.003954	0	26	73				
ADAM22	53616	broad.mit.edu	37	7	87737540	87737540	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:87737540C>G	ENST00000265727.7	+	5	519	c.440C>G	c.(439-441)tCa>tGa	p.S147*	ADAM22_ENST00000439864.1_Nonsense_Mutation_p.S147*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.S147*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.S147*|ADAM22_ENST00000398204.4_Nonsense_Mutation_p.S147*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.S147*			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	147					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AACCCTGACTCATTTGTTGCA	0.363																																							uc003ujn.2		NA																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(439-441)TCA>TGA		ADAM metallopeptidase domain 22 isoform 1							94.0	89.0	91.0					7																	87737540		1969	4160	6129	SO:0001587	stop_gained	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87737540C>G	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.440C>G	7.37:g.87737540C>G	ENSP00000265727:p.Ser147*					ADAM22_uc003uji.1_Nonsense_Mutation_p.S146*|ADAM22_uc003ujj.1_Nonsense_Mutation_p.S147*|ADAM22_uc003ujk.1_Nonsense_Mutation_p.S147*|ADAM22_uc003ujl.1_Nonsense_Mutation_p.S147*|ADAM22_uc003ujm.2_Nonsense_Mutation_p.S147*|ADAM22_uc003ujo.2_Nonsense_Mutation_p.S147*|ADAM22_uc003ujp.1_Nonsense_Mutation_p.S199*	p.S147*	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	519	+	Esophageal squamous(14;0.00202)		147					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Nonsense_Mutation	SNP	ENST00000265727.7	37	c.440C>G	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	37	6.589724	0.97688	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3531	0.94398	0.0:1.0:0.0:0.0	.	.	.	.	X	147;147;164;147;147;147;147;114	.	ENSP00000265727:S147X	S	+	2	0	ADAM22	87575476	1.000000	0.71417	0.593000	0.28771	0.893000	0.52053	6.002000	0.70693	2.941000	0.99782	0.655000	0.94253	TCA		0.363	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		5	41	0	0	0	0.001168	0	5	41				
ZNF804B	219578	broad.mit.edu	37	7	88963430	88963430	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:88963430C>A	ENST00000333190.4	+	4	1743	c.1134C>A	c.(1132-1134)gcC>gcA	p.A378A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	378							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATAGTGATGCCAGGATATCTG	0.393										HNSCC(36;0.09)																													uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1132-1134)GCC>GCA		zinc finger protein 804B							44.0	50.0	48.0					7																	88963430		2202	4300	6502	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963430C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1134C>A	7.37:g.88963430C>A		HNSCC(36;0.09)					p.A378A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1672	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		378					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1134C>A	CCDS5613.1																																																																																				0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	29	1	0	6.31663e-08	0.003163	8.85996e-08	14	29				
AKAP9	10142	broad.mit.edu	37	7	91631164	91631164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:91631164G>T	ENST00000359028.2	+	9	2194	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E645*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E657*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	657	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGAAGATTTAGAAATTGAACA	0.333			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1933-1935)GAA>TAA		A-kinase anchor protein 9 isoform 2							50.0	54.0	53.0					7																	91631164		2202	4296	6498	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631164G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1969G>T	7.37:g.91631164G>T	ENSP00000351922:p.Glu657*					AKAP9_uc003ule.2_Nonsense_Mutation_p.E657*|AKAP9_uc003ulf.2_Nonsense_Mutation_p.E645*|AKAP9_uc003uli.2_Nonsense_Mutation_p.E270*	p.E645*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	2158	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		657			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.1933G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.936160	0.97948	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.49	5.49	0.81192	.	0.000000	0.42964	D	0.000625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.0781	0.42373	0.0736:0.2108:0.7156:0.0	.	.	.	.	X	645;657;657;657;657	.	ENSP00000348573:E645X	E	+	1	0	AKAP9	91469100	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.922000	0.48860	2.758000	0.94735	0.650000	0.86243	GAA		0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		19	25	1	0	5.03518e-11	0.007413	7.86025e-11	19	25				
SAMD9	54809	broad.mit.edu	37	7	92732038	92732038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:92732038G>A	ENST00000379958.2	-	3	3642	c.3373C>T	c.(3373-3375)Caa>Taa	p.Q1125*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1125						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGTAGACTTGACCCAGTGTA	0.358																																							uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3373-3375)CAA>TAA		sterile alpha motif domain containing 9							139.0	139.0	139.0					7																	92732038		2203	4300	6503	SO:0001587	stop_gained	54809					cytoplasm		g.chr7:92732038G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3373C>T	7.37:g.92732038G>A	ENSP00000369292:p.Gln1125*					SAMD9_uc003umg.2_Nonsense_Mutation_p.Q1125*	p.Q1125*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3629	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1125					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	c.3373C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	41	8.749953	0.98939	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.79	4.79	0.61399	.	0.078621	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.0179	16.5335	0.84367	0.0:0.0:1.0:0.0	.	.	.	.	X	1125	.	ENSP00000369292:Q1125X	Q	-	1	0	SAMD9	92569974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.491000	0.84063	0.609000	0.83330	CAA		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		40	92	0	0	0	0.009718	0	40	92				
SAMD9L	219285	broad.mit.edu	37	7	92764098	92764098	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:92764098A>G	ENST00000318238.4	-	5	2403	c.1187T>C	c.(1186-1188)cTa>cCa	p.L396P	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L396P|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L396P	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	396					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACCAGCTTTAGTCCTTCACT	0.363																																							uc003umh.1		NA																	0				ovary(4)	4						c.(1186-1188)CTA>CCA		sterile alpha motif domain containing 9-like							168.0	171.0	170.0					7																	92764098		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92764098A>G	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1187T>C	7.37:g.92764098A>G	ENSP00000326247:p.Leu396Pro					SAMD9L_uc003umj.1_Missense_Mutation_p.L396P|SAMD9L_uc003umi.1_Missense_Mutation_p.L396P|SAMD9L_uc010lfb.1_Missense_Mutation_p.L396P|SAMD9L_uc003umk.1_Missense_Mutation_p.L396P|SAMD9L_uc010lfc.1_Missense_Mutation_p.L396P|SAMD9L_uc010lfd.1_Missense_Mutation_p.L396P|SAMD9L_uc011khx.1_Intron	p.L396P	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2403	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		396					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1187T>C	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413257	0.25465	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.16073	2.37;2.37;2.37	4.74	-0.53	0.11898	.	0.353712	0.23404	N	0.048550	T	0.08044	0.0201	N	0.16790	0.44	0.37417	D	0.913497	B	0.02656	0.0	B	0.06405	0.002	T	0.16012	-1.0417	10	0.44086	T	0.13	-1.5344	4.5478	0.12090	0.3273:0.0:0.356:0.3166	.	396	Q8IVG5	SAM9L_HUMAN	P	396	ENSP00000326247:L396P;ENSP00000405760:L396P;ENSP00000408796:L396P	ENSP00000326247:L396P	L	-	2	0	SAMD9L	92602034	0.000000	0.05858	0.993000	0.49108	0.893000	0.52053	-0.457000	0.06745	0.007000	0.14760	0.377000	0.23210	CTA		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		29	142	0	0	0	0.007291	0	29	142				
COL1A2	1278	broad.mit.edu	37	7	94043556	94043556	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:94043556C>T	ENST00000297268.6	+	29	2159	c.1688C>T	c.(1687-1689)cCc>cTc	p.P563L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	563					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCTCAGGTCCCGCTGGTGAA	0.433										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1687-1689)CCC>CTC		alpha 2 type I collagen precursor	Collagenase(DB00048)						65.0	66.0	66.0					7																	94043556		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94043556C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1688C>T	7.37:g.94043556C>T	ENSP00000297268:p.Pro563Leu	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P563L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		29	2159	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		563					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1688C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524634	0.44969	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96685	-4.09	5.13	5.13	0.70059	.	0.626869	0.16276	N	0.221586	D	0.95551	0.8554	M	0.66939	2.045	0.21355	N	0.999712	B	0.15473	0.013	B	0.15870	0.014	D	0.89413	0.3704	10	0.72032	D	0.01	.	18.1264	0.89587	0.0:1.0:0.0:0.0	.	563	P08123	CO1A2_HUMAN	L	563;564	ENSP00000297268:P563L	ENSP00000297268:P563L	P	+	2	0	COL1A2	93881492	0.210000	0.23517	0.018000	0.16275	0.475000	0.33008	3.746000	0.55127	2.838000	0.97847	0.591000	0.81541	CCC		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		5	36	0	0	0	0.001984	0	5	36				
COL1A2	1278	broad.mit.edu	37	7	94057735	94057735	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:94057735C>A	ENST00000297268.6	+	50	4128	c.3657C>A	c.(3655-3657)agC>agA	p.S1219R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1219	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTATAGGAGCTCCAAGGACA	0.463										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3655-3657)AGC>AGA		alpha 2 type I collagen precursor	Collagenase(DB00048)						87.0	86.0	86.0					7																	94057735		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057735C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3657C>A	7.37:g.94057735C>A	ENSP00000297268:p.Ser1219Arg	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.S1219R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		50	4128	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1219			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3657C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231597	0.22626	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.73363	-0.74	5.3	-1.33	0.09172	Fibrillar collagen, C-terminal (3);	0.374229	0.35207	N	0.003369	T	0.63954	0.2555	L	0.46670	1.46	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.54146	-0.8337	10	0.41790	T	0.15	.	12.7772	0.57455	0.0:0.6073:0.0:0.3927	.	1219	P08123	CO1A2_HUMAN	R	1219;1220	ENSP00000297268:S1219R	ENSP00000297268:S1219R	S	+	3	2	COL1A2	93895671	0.128000	0.22383	0.001000	0.08648	0.231000	0.25187	0.524000	0.22940	-0.367000	0.08052	-0.136000	0.14681	AGC		0.463	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		23	45	1	0	9.95505e-16	0.002299	1.7447e-15	23	45				
CYP3A43	64816	broad.mit.edu	37	7	99454461	99454461	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:99454461A>T	ENST00000354829.2	+	9	907	c.804A>T	c.(802-804)cgA>cgT	p.R268R	CYP3A43_ENST00000444905.1_Silent_p.R15R|CYP3A43_ENST00000417625.1_Silent_p.R158R|CYP3A43_ENST00000222382.5_Silent_p.R268R|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000415413.1_Silent_p.R57R|CYP3A43_ENST00000342499.4_Silent_p.R128R|CYP3A43_ENST00000312017.5_Silent_p.R268R	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	268			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCCAGCATCGAGTAGATTTCT	0.428																																							uc003urx.1		NA																	0				ovary(1)|skin(1)	2						c.(802-804)CGA>CGT		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						86.0	93.0	91.0					7																	99454461		2203	4300	6503	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99454461A>T	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.804A>T	7.37:g.99454461A>T						CYP3A43_uc003ury.1_Silent_p.R268R|CYP3A43_uc003urz.1_Silent_p.R268R|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Silent_p.R158R|CYP3A43_uc003usb.1_Silent_p.R128R	p.R268R	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			9	907	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		268		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	c.804A>T	CCDS5676.1																																																																																				0.428	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			50	89	0	0	0	0.00361	0	50	89				
MOSPD3	64598	broad.mit.edu	37	7	100210495	100210495	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:100210495C>A	ENST00000393950.2	+	1	363	c.81C>A	c.(79-81)ccC>ccA	p.P27P	MOSPD3_ENST00000223054.4_Silent_p.P27P|MOSPD3_ENST00000424091.2_Silent_p.P27P|MOSPD3_ENST00000379527.2_Silent_p.P27P	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	27					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ccccTCCTCCCTTGGGACCCG	0.721																																							uc003uvq.2		NA																	0				ovary(2)	2						c.(79-81)CCC>CCA		motile sperm domain containing 3 isoform a							20.0	25.0	23.0					7																	100210495		2161	4254	6415	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100210495C>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.81C>A	7.37:g.100210495C>A						MOSPD3_uc003uvr.2_Silent_p.P27P|MOSPD3_uc003uvs.2_Silent_p.P27P|MOSPD3_uc003uvt.2_Silent_p.P27P	p.P27P	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN			2	283	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		27					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.81C>A	CCDS5701.1																																																																																				0.721	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		21	50	1	0	3.51602e-12	0.008871	5.67099e-12	21	50				
MUC17	140453	broad.mit.edu	37	7	100663478	100663478	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:100663478C>A	ENST00000306151.4	+	1	126	c.62C>A	c.(61-63)cCa>cAa	p.P21Q	RP11-395B7.4_ENST00000441882.1_RNA|RP11-395B7.4_ENST00000448513.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	21					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCTTGCCCCCACAAGCTGCT	0.667																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(61-63)CCA>CAA		mucin 17 precursor							105.0	73.0	84.0					7																	100663478		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100663478C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.62C>A	7.37:g.100663478C>A	ENSP00000302716:p.Pro21Gln					MUC17_uc010lho.1_RNA	p.P21Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			1	115	+	Lung NSC(181;0.136)|all_lung(186;0.182)		21					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.62C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.114	-0.181926	0.06340	.	.	ENSG00000169876	ENST00000306151	T	0.03272	3.99	2.12	-1.99	0.07457	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.37549	-0.9701	9	0.87932	D	0	.	2.193	0.03904	0.3256:0.3447:0.0:0.3297	.	21	Q685J3	MUC17_HUMAN	Q	21	ENSP00000302716:P21Q	ENSP00000302716:P21Q	P	+	2	0	MUC17	100450198	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.696000	0.00390	-0.491000	0.06697	0.407000	0.27541	CCA		0.667	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	23	1	0	0.00185496	0.001855	0.00204768	10	23				
MUC17	140453	broad.mit.edu	37	7	100684764	100684764	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:100684764A>G	ENST00000306151.4	+	3	10131	c.10067A>G	c.(10066-10068)gAg>gGg	p.E3356G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3356	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGTTCTGAGGCTAGCACC	0.483																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10066-10068)GAG>GGG		mucin 17 precursor							299.0	310.0	306.0					7																	100684764		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684764A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10067A>G	7.37:g.100684764A>G	ENSP00000302716:p.Glu3356Gly					MUC17_uc010lho.1_RNA	p.E3356G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10120	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3356			Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10067A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	6.356	0.433790	0.12045	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.44	-0.0915	0.13661	.	.	.	.	.	T	0.03434	0.0099	N	0.24115	0.695	0.09310	N	1	D	0.63880	0.993	D	0.70227	0.968	T	0.44298	-0.9337	9	0.22109	T	0.4	.	1.5872	0.02647	0.4555:0.0:0.2496:0.2948	.	3356	Q685J3	MUC17_HUMAN	G	3356	ENSP00000302716:E3356G	ENSP00000302716:E3356G	E	+	2	0	MUC17	100471484	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.096000	0.11059	-0.166000	0.10890	0.165000	0.16767	GAG		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		87	520	0	0	0	0.00361	0	87	520				
SLC26A5	375611	broad.mit.edu	37	7	103048298	103048298	+	Splice_Site	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:103048298C>T	ENST00000306312.3	-	8	1149	c.888G>A	c.(886-888)gcG>gcA	p.A296A	SLC26A5_ENST00000393735.2_Splice_Site_p.A296A|SLC26A5_ENST00000393729.1_Splice_Site_p.A259A|SLC26A5_ENST00000432958.2_Splice_Site_p.A296A|SLC26A5_ENST00000393723.1_Splice_Site_p.A296A|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Splice_Site_p.A296A|SLC26A5_ENST00000339444.6_Splice_Site_p.A296A|SLC26A5_ENST00000393727.1_Splice_Site_p.A296A|SLC26A5_ENST00000393730.1_Splice_Site_p.A296A	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	296					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTGACTTACCGCAAAGAACT	0.438																																							uc003vbz.2		NA																	0				ovary(1)	1						c.(886-888)GCG>GCA		prestin isoform a							79.0	82.0	81.0					7																	103048298		2203	4300	6503	SO:0001630	splice_region_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103048298C>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.888+1G>A	7.37:g.103048298C>T						SLC26A5_uc003vbt.1_Silent_p.A296A|SLC26A5_uc003vbu.1_Silent_p.A296A|SLC26A5_uc003vbv.1_Silent_p.A296A|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.A296A|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.A296A	NM_198999	NP_945350	P58743	S26A5_HUMAN			8	1124	-			296			Helical; Name=7; (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.888G>A	CCDS5733.1																																																																																				0.438	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	Silent	5	74	0	0	0	0.001168	0	5	74				
RELN	5649	broad.mit.edu	37	7	103206745	103206745	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:103206745T>C	ENST00000428762.1	-	33	5021	c.4862A>G	c.(4861-4863)tAt>tGt	p.Y1621C	RELN_ENST00000343529.5_Missense_Mutation_p.Y1621C|RELN_ENST00000424685.2_Missense_Mutation_p.Y1621C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1621					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)		TTGGATTCGATACCAGTTGGC	0.388																																					NSCLC(146;835 1944 15585 22231 52158)	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.(4861-4863)TAT>TGT		reelin isoform a							101.0	96.0	98.0					7																	103206745		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.chr7:103206745T>C		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.4862A>G	7.37:g.103206745T>C	ENSP00000392423:p.Tyr1621Cys					RELN_uc010liz.2_Missense_Mutation_p.Y1621C	p.Y1621C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	5022	-			1621					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4862A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.071069	0.76301	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26810	1.71;1.71;1.71	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.73598	2.24	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.81914	0.987;0.995	T	0.55970	-0.8056	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1621;1621	P78509-2;P78509	.;RELN_HUMAN	C	1621	ENSP00000392423:Y1621C;ENSP00000345694:Y1621C;ENSP00000388446:Y1621C	ENSP00000345694:Y1621C	Y	-	2	0	RELN	102993981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.647000	0.67923	2.333000	0.79357	0.533000	0.62120	TAT		0.388	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	44	0	0	0	0.008291	0	11	44				
LHFPL3	375612	broad.mit.edu	37	7	103969353	103969353	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:103969353C>T	ENST00000401970.2	+	1	206	c.84C>T	c.(82-84)atC>atT	p.I28I	LHFPL3_ENST00000535008.1_Silent_p.I42I|LHFPL3_ENST00000424859.1_Silent_p.I28I|LHFPL3_ENST00000543266.1_Silent_p.I42I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	42						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TGTGGGCCATCTTCACCATCT	0.647																																							uc003vce.2		NA																	0					0						c.(124-126)ATC>ATT		lipoma HMGIC fusion partner-like 3							74.0	89.0	84.0					7																	103969353		2200	4300	6500	SO:0001819	synonymous_variant	375612					integral to membrane		g.chr7:103969353C>T	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.84C>T	7.37:g.103969353C>T						LHFPL3_uc003vcf.2_Silent_p.I42I	p.I42I	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			1	250	+			28			Helical; (Potential).		A1L383|A4D0Q5	Silent	SNP	ENST00000401970.2	37	c.126C>T																																																																																					0.647	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		10	25	0	0	0	0.008291	0	10	25				
SLC26A3	1811	broad.mit.edu	37	7	107432291	107432292	+	Nonsense_Mutation	DNP	GG	GG	TT	rs373999154		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:107432291_107432292GG>TT	ENST00000340010.5	-	4	549_550	c.365_366CC>AA	c.(364-366)tCC>tAA	p.S122*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.S87*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	122					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.S122F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATATGTGTCTGGAAGTGCCGAA	0.401																																							uc003ver.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(3)|skin(1)	4						c.(364-366)TCC>TAA		solute carrier family 26, member 3																																				SO:0001587	stop_gained	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432291_107432292GG>TT	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.365_366delinsTT	7.37:g.107432291_107432292delinsTT	ENSP00000345873:p.Ser122*					SLC26A3_uc003ves.2_Nonsense_Mutation_p.S87*	p.S122*	NM_000111	NP_000102	P40879	S26A3_HUMAN			4	576_577	-			122						Nonsense_Mutation	DNP	ENST00000340010.5	37	c.365_366CC>AA	CCDS5748.1																																																																																				0.401	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		24	61	0	0	0	0.004672	0	24	61				
NRCAM	4897	broad.mit.edu	37	7	107823173	107823173	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:107823173C>A	ENST00000425651.2	-	20	2495	c.2496G>T	c.(2494-2496)gaG>gaT	p.E832D	NRCAM_ENST00000379022.4_Missense_Mutation_p.E832D|NRCAM_ENST00000351718.4_Missense_Mutation_p.E816D|NRCAM_ENST00000379028.3_Missense_Mutation_p.E832D|NRCAM_ENST00000379024.4_Missense_Mutation_p.E813D|NRCAM_ENST00000413765.2_Missense_Mutation_p.E813D	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	832	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTACAGCTGGCTCGGGGGCAA	0.483																																							uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(2494-2496)GAG>GAT		neuronal cell adhesion molecule isoform A							81.0	77.0	78.0					7																	107823173		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107823173C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2496G>T	7.37:g.107823173C>A	ENSP00000401244:p.Glu832Asp					NRCAM_uc003vfc.2_Missense_Mutation_p.E816D|NRCAM_uc011kmk.1_Missense_Mutation_p.E827D|NRCAM_uc003vfd.2_Missense_Mutation_p.E808D|NRCAM_uc003vfe.2_Missense_Mutation_p.E808D	p.E832D	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			23	2967	-			832			Fibronectin type-III 2.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2496G>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347366	0.41599	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	6.05	4.15	0.48705	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.237779	0.50627	D	0.000117	T	0.42944	0.1225	L	0.33485	1.01	0.48185	D	0.999606	P;B;B;B;B	0.35714	0.517;0.004;0.07;0.057;0.187	B;B;B;B;B	0.42995	0.404;0.012;0.12;0.045;0.079	T	0.31336	-0.9947	10	0.33141	T	0.24	.	6.0536	0.19799	0.2603:0.5998:0.0:0.1399	.	832;813;813;816;832	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	D	832;832;813;832;816;813;832;832	ENSP00000368314:E832D;ENSP00000407858:E813D;ENSP00000325269:E816D;ENSP00000368310:E813D;ENSP00000401244:E832D;ENSP00000368308:E832D	ENSP00000325269:E816D	E	-	3	2	NRCAM	107610409	0.953000	0.32496	1.000000	0.80357	0.993000	0.82548	0.122000	0.15687	1.556000	0.49512	0.650000	0.86243	GAG		0.483	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		20	42	1	0	1.96292e-10	0.010504	3.00899e-10	20	42				
IFRD1	3475	broad.mit.edu	37	7	112098960	112098960	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:112098960C>G	ENST00000403825.3	+	5	715	c.454C>G	c.(454-456)Ctt>Gtt	p.L152V	IFRD1_ENST00000535603.1_Missense_Mutation_p.L102V|IFRD1_ENST00000486688.1_3'UTR|IFRD1_ENST00000005558.4_Missense_Mutation_p.L152V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	152					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGCATCTGTTCTTTGTATTCA	0.408																																							uc003vgh.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(454-456)CTT>GTT		interferon-related developmental regulator 1							98.0	97.0	97.0					7																	112098960		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112098960C>G	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.454C>G	7.37:g.112098960C>G	ENSP00000384477:p.Leu152Val					IFRD1_uc011kmn.1_Missense_Mutation_p.L102V|IFRD1_uc003vgj.2_Missense_Mutation_p.L152V|IFRD1_uc011kmo.1_Intron|IFRD1_uc011kmp.1_Missense_Mutation_p.L102V	p.L152V	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN			6	897	+			152					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.454C>G	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456189	0.84209	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T;T	0.72835	-0.69;-0.69;1.04;-0.69	5.78	4.89	0.63831	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85022	0.5602	M	0.85462	2.755	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.86980	0.2103	10	0.72032	D	0.01	-10.8899	15.2296	0.73378	0.0:0.9313:0.0:0.0687	.	152	O00458	IFRD1_HUMAN	V	152;152;102;102;102	ENSP00000005558:L152V;ENSP00000384477:L152V;ENSP00000402177:L102V;ENSP00000439188:L102V	ENSP00000005558:L152V	L	+	1	0	IFRD1	111886196	1.000000	0.71417	0.966000	0.40874	0.988000	0.76386	3.724000	0.54962	2.733000	0.93635	0.591000	0.81541	CTT		0.408	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		11	34	0	0	0	0.001855	0	11	34				
GPR85	54329	broad.mit.edu	37	7	112724719	112724719	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:112724719C>A	ENST00000297146.3	-	3	661	c.58G>T	c.(58-60)Gcc>Tcc	p.A20S	GPR85_ENST00000424100.1_Missense_Mutation_p.A20S|GPR85_ENST00000449591.1_Missense_Mutation_p.A20S|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.A20S	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	20					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTCAGAAAGGCTGTTAGAGGC	0.453																																							uc010ljv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(58-60)GCC>TCC		G protein-coupled receptor 85							51.0	51.0	51.0					7																	112724719		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724719C>A	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.58G>T	7.37:g.112724719C>A	ENSP00000297146:p.Ala20Ser					GPR85_uc003vgp.1_Missense_Mutation_p.A20S|GPR85_uc003vgq.2_Missense_Mutation_p.A20S|GPR85_uc010ljw.1_Missense_Mutation_p.A20S	p.A20S	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	575	-			20			Extracellular (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.58G>T	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600806	0.28534	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591;ENST00000449735;ENST00000438062	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.65	5.65	0.86999	.	0.051260	0.85682	D	0.000000	T	0.22003	0.0530	N	0.08118	0	0.48452	D	0.999659	B	0.02656	0.0	B	0.06405	0.002	T	0.11131	-1.0600	10	0.11794	T	0.64	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	20	P60893	GPR85_HUMAN	S	20	ENSP00000445808:A20S;ENSP00000297146:A20S;ENSP00000396763:A20S;ENSP00000401178:A20S;ENSP00000415699:A20S;ENSP00000416722:A20S	ENSP00000297146:A20S	A	-	1	0	GPR85	112511955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.742000	0.62103	2.668000	0.90789	0.655000	0.94253	GCC		0.453	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			12	45	1	0	0.00136819	0.001368	0.00151231	12	45				
PPP1R3A	5506	broad.mit.edu	37	7	113518730	113518730	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:113518730C>A	ENST00000284601.3	-	4	2485	c.2417G>T	c.(2416-2418)cGt>cTt	p.R806L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	806					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AATACCTAAACGTGATTCCTT	0.373																																							uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2416-2418)CGT>CTT		protein phosphatase 1, regulatory (inhibitor)							120.0	102.0	108.0					7																	113518730		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518730C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2417G>T	7.37:g.113518730C>A	ENSP00000284601:p.Arg806Leu						p.R806L	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2448	-			806					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2417G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	5.476	0.272921	0.10349	.	.	ENSG00000154415	ENST00000284601	T	0.15256	2.44	5.92	-5.57	0.02521	.	1.166730	0.06041	N	0.654939	T	0.11665	0.0284	L	0.40543	1.245	0.09310	N	1	B	0.20887	0.049	B	0.17433	0.018	T	0.41484	-0.9506	10	0.09338	T	0.73	-5.7237	10.2837	0.43554	0.0995:0.2945:0.0:0.606	.	806	Q16821	PPR3A_HUMAN	L	806	ENSP00000284601:R806L	ENSP00000284601:R806L	R	-	2	0	PPP1R3A	113305966	0.429000	0.25530	0.001000	0.08648	0.832000	0.47134	-0.500000	0.06405	-1.156000	0.02818	-0.961000	0.02630	CGT		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		19	61	1	0	3.99206e-14	0.007413	6.7865e-14	19	61				
CPED1	79974	broad.mit.edu	37	7	120911434	120911435	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:120911434_120911435GG>TT	ENST00000310396.5	+	22	3285_3286	c.2818_2819GG>TT	c.(2818-2820)GGg>TTg	p.G940L		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	940						endoplasmic reticulum (GO:0005783)											TATAACAATGGGGCGTTACAAA	0.347																																							uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2818-2820)GGG>TTG		hypothetical protein LOC79974 isoform 1																																				SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120911434_120911435GG>TT		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	Exception_encountered	7.37:g.120911434_120911435delinsTT	ENSP00000309772:p.Gly940Leu						p.G940L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			22	3265_3266	+	all_neural(327;0.117)		940					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	DNP	ENST00000310396.5	37	c.2818_2819GG>TT	CCDS34739.1																																																																																				0.347	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		42	43	0	0	0	0.004672	0	42	43				
TAS2R16	50833	broad.mit.edu	37	7	122634999	122634999	+	Silent	SNP	G	G	T	rs187186713	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:122634999G>T	ENST00000249284.2	-	1	755	c.690C>A	c.(688-690)gcC>gcA	p.A230A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.A230A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAATAAGACGGCAAGGGACC	0.433																																							uc003vkl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(688-690)GCC>GCA		taste receptor T2R16							145.0	125.0	132.0					7																	122634999		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122634999G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.690C>A	7.37:g.122634999G>T							p.A230A	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	756	-			230			Helical; Name=6; (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.690C>A	CCDS5785.1																																																																																				0.433	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		12	112	1	0	0.000978159	0.010729	0.00109184	12	112				
HYAL4	23553	broad.mit.edu	37	7	123514871	123514871	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:123514871T>A	ENST00000223026.4	+	4	1649	c.1011T>A	c.(1009-1011)gtT>gtA	p.V337V	HYAL4_ENST00000476325.1_Silent_p.V337V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	337					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAGGCATTGTTATTTGGGGAG	0.358																																							uc003vlc.2		NA																	0				skin(1)	1						c.(1009-1011)GTT>GTA		hyaluronoglucosaminidase 4							112.0	106.0	108.0					7																	123514871		2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123514871T>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1011T>A	7.37:g.123514871T>A						HYAL4_uc011knz.1_Silent_p.V337V	p.V337V	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			4	1649	+			337			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.1011T>A	CCDS5789.1																																																																																				0.358	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		4	49	0	0	0	0.001168	0	4	49				
GRM8	2918	broad.mit.edu	37	7	126882944	126882944	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:126882944C>G	ENST00000339582.2	-	2	1123	c.315G>C	c.(313-315)acG>acC	p.T105T	GRM8_ENST00000444921.2_Silent_p.T105T|GRM8_ENST00000358373.3_Silent_p.T105T|GRM8_ENST00000405249.1_Silent_p.T105T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	105					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCTAGAGCACGTGTCGAGGA	0.483										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(313-315)ACG>ACC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						124.0	98.0	107.0					7																	126882944		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882944C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.315G>C	7.37:g.126882944C>G		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T105T|GRM8_uc010lkz.1_RNA	p.T105T	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	626	-		Prostate(267;0.186)	105			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.315G>C	CCDS5794.1																																																																																				0.483	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			10	52	0	0	0	0.006214	0	10	52				
OPN1SW	611	broad.mit.edu	37	7	128415650	128415650	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:128415650C>G	ENST00000249389.2	-	1	194	c.195G>C	c.(193-195)ttG>ttC	p.L65F		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	65					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GGGGCTGCCGCAACTTTTTGT	0.552																																							uc003vnt.3		NA																	0					0						c.(193-195)TTG>TTC		opsin 1 (cone pigments), short-wave-sensitive							108.0	115.0	113.0					7																	128415650		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415650C>G	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.195G>C	7.37:g.128415650C>G	ENSP00000249389:p.Leu65Phe						p.L65F	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	195	-			65			Cytoplasmic (Potential).		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.195G>C	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302713	0.40795	.	.	ENSG00000128617	ENST00000249389	T	0.51325	0.71	5.35	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.74898	0.3777	H	0.94222	3.51	0.49051	D	0.999746	D	0.89917	1.0	D	0.97110	1.0	T	0.80777	-0.1231	10	0.87932	D	0	.	10.7732	0.46336	0.3451:0.6549:0.0:0.0	.	65	P03999	OPSB_HUMAN	F	65	ENSP00000249389:L65F	ENSP00000249389:L65F	L	-	3	2	OPN1SW	128202886	0.998000	0.40836	0.999000	0.59377	0.222000	0.24845	0.467000	0.22035	1.428000	0.47296	0.655000	0.94253	TTG		0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		38	86	0	0	0	0.005524	0	38	86				
FLNC	2318	broad.mit.edu	37	7	128482971	128482971	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:128482971C>G	ENST00000325888.8	+	16	2774	c.2513C>G	c.(2512-2514)gCg>gGg	p.A838G	FLNC_ENST00000346177.6_Missense_Mutation_p.A838G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	838					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCACCAGGGGCGGGCCGCTAC	0.592																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(2512-2514)GCG>GGG		gamma filamin isoform a							52.0	59.0	57.0					7																	128482971		2132	4228	6360	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482971C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2513C>G	7.37:g.128482971C>G	ENSP00000327145:p.Ala838Gly					FLNC_uc003voa.3_Missense_Mutation_p.A838G	p.A838G	NM_001458	NP_001449	Q14315	FLNC_HUMAN			16	2722	+			838			Filamin 6.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2513C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648114	0.87958	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85339	-1.97;-1.97	5.7	5.7	0.88788	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.123818	0.52532	D	0.000061	D	0.90899	0.7140	M	0.87180	2.865	0.54753	D	0.999989	B;B	0.32203	0.081;0.36	B;B	0.42522	0.123;0.39	D	0.90497	0.4471	10	0.66056	D	0.02	.	19.8471	0.96713	0.0:1.0:0.0:0.0	.	838;838	Q14315-2;Q14315	.;FLNC_HUMAN	G	838	ENSP00000327145:A838G;ENSP00000344002:A838G	ENSP00000327145:A838G	A	+	2	0	FLNC	128270207	1.000000	0.71417	0.535000	0.28026	0.447000	0.32167	7.792000	0.85828	2.688000	0.91661	0.655000	0.94253	GCG		0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			15	34	0	0	0	0.00499	0	15	34				
FLNC	2318	broad.mit.edu	37	7	128490526	128490526	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:128490526G>T	ENST00000325888.8	+	32	5648	c.5387G>T	c.(5386-5388)gGg>gTg	p.G1796V	FLNC_ENST00000346177.6_Missense_Mutation_p.G1763V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1796					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCAGAAAGGGGAGCTCACA	0.597																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5386-5388)GGG>GTG		gamma filamin isoform a							80.0	87.0	85.0					7																	128490526		1958	4154	6112	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490526G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5387G>T	7.37:g.128490526G>T	ENSP00000327145:p.Gly1796Val					FLNC_uc003voa.3_Missense_Mutation_p.G1763V	p.G1796V	NM_001458	NP_001449	Q14315	FLNC_HUMAN			32	5596	+			1796			Filamin 16.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5387G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081794	0.94050	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84442	-1.85;-1.85	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95400	0.8489	10	0.87932	D	0	.	19.0476	0.93028	0.0:0.0:1.0:0.0	.	1763;1796	Q14315-2;Q14315	.;FLNC_HUMAN	V	1796;1763	ENSP00000327145:G1796V;ENSP00000344002:G1763V	ENSP00000327145:G1796V	G	+	2	0	FLNC	128277762	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.358000	0.79466	2.584000	0.87258	0.655000	0.94253	GGG		0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			40	73	1	0	1.07121e-22	0.006999	1.99677e-22	40	73				
SMO	6608	broad.mit.edu	37	7	128846355	128846355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:128846355C>A	ENST00000249373.3	+	6	1471	c.1191C>A	c.(1189-1191)taC>taA	p.Y397*		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	397					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	ACAAGAACTACCGATACCGTG	0.602			Mis		skin basal cell																																		uc003vor.2		NA		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		0				skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(1189-1191)TAC>TAA		smoothened precursor							243.0	198.0	214.0					7																	128846355		2203	4300	6503	SO:0001587	stop_gained	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128846355C>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1191C>A	7.37:g.128846355C>A	ENSP00000249373:p.Tyr397*					SMO_uc003vos.2_Nonsense_Mutation_p.Y72*	p.Y397*	NM_005631	NP_005622	Q99835	SMO_HUMAN			6	1471	+			397			Extracellular (Potential).		A4D1K5	Nonsense_Mutation	SNP	ENST00000249373.3	37	c.1191C>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681936	0.88542	.	.	ENSG00000128602	ENST00000249373	.	.	.	5.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3895	0.32520	0.0:0.6772:0.0:0.3228	.	.	.	.	X	397	.	ENSP00000249373:Y397X	Y	+	3	2	SMO	128633591	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.700000	0.25601	1.214000	0.43395	0.561000	0.74099	TAC		0.602	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		30	160	1	0	2.36697e-06	0.007291	3.07399e-06	30	160				
SMO	6608	broad.mit.edu	37	7	128849169	128849169	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:128849169C>A	ENST00000249373.3	+	8	1677	c.1397C>A	c.(1396-1398)aCc>aAc	p.T466N	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	466					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GTGCTCATTACCTTCAGCTGC	0.592			Mis		skin basal cell																																		uc003vor.2		NA		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		0				skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(1396-1398)ACC>AAC		smoothened precursor							108.0	93.0	98.0					7																	128849169		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128849169C>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1397C>A	7.37:g.128849169C>A	ENSP00000249373:p.Thr466Asn					SMO_uc003vos.2_Missense_Mutation_p.T141N	p.T466N	NM_005631	NP_005622	Q99835	SMO_HUMAN			8	1677	+			466			Helical; Name=6; (Potential).		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.1397C>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052057	0.93793	.	.	ENSG00000128602	ENST00000249373	D	0.82344	-1.6	5.22	5.22	0.72569	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93264	0.6646	10	0.87932	D	0	.	17.7663	0.88478	0.0:1.0:0.0:0.0	.	466;466	A4D1K5;Q99835	.;SMO_HUMAN	N	466	ENSP00000249373:T466N	ENSP00000249373:T466N	T	+	2	0	SMO	128636405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.434000	0.82447	0.561000	0.74099	ACC		0.592	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		29	54	1	0	5.45727e-16	0.008361	9.58405e-16	29	54				
PLXNA4	91584	broad.mit.edu	37	7	131878928	131878928	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:131878928C>G	ENST00000359827.3	-	14	3711	c.2749G>C	c.(2749-2751)Gag>Cag	p.E917Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E917Q			Q9HCM2	PLXA4_HUMAN	plexin A4	917	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCCCCATCTCACACACGATC	0.592																																							uc003vra.3		NA																	0				ovary(1)	1						c.(2749-2751)GAG>CAG		plexin A4 isoform 1							83.0	83.0	83.0					7																	131878928		2061	4198	6259	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131878928C>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2749G>C	7.37:g.131878928C>G	ENSP00000352882:p.Glu917Gln						p.E917Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			14	2978	-			917			IPT/TIG 1.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2749G>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943681	0.73672	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76186	-1.0;-1.0	4.48	4.48	0.54585	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.66297	2.02	0.80722	D	1	P	0.36354	0.549	P	0.45232	0.474	T	0.73760	-0.3881	10	0.16896	T	0.51	.	17.3305	0.87262	0.0:1.0:0.0:0.0	.	917	Q9HCM2	PLXA4_HUMAN	Q	917	ENSP00000323194:E917Q;ENSP00000352882:E917Q	ENSP00000323194:E917Q	E	-	1	0	PLXNA4	131529468	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.503000	0.81632	2.317000	0.78254	0.484000	0.47621	GAG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		39	60	0	0	0	0.004878	0	39	60				
PLXNA4	91584	broad.mit.edu	37	7	132193255	132193255	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:132193255C>A	ENST00000359827.3	-	2	1160	c.198G>T	c.(196-198)ggG>ggT	p.G66G	PLXNA4_ENST00000378539.5_Silent_p.G66G|PLXNA4_ENST00000423507.2_Silent_p.G66G|PLXNA4_ENST00000321063.4_Silent_p.G66G			Q9HCM2	PLXA4_HUMAN	plexin A4	66	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATTGACGGCCCCCAAGTAAA	0.572																																							uc003vra.3		NA																	0				ovary(1)	1						c.(196-198)GGG>GGT		plexin A4 isoform 1							56.0	60.0	59.0					7																	132193255		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193255C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.198G>T	7.37:g.132193255C>A						PLXNA4_uc003vrc.2_Silent_p.G66G|PLXNA4_uc003vrb.2_Silent_p.G66G	p.G66G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	427	-			66			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.198G>T	CCDS43646.1																																																																																				0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		34	51	1	0	9.8876e-21	0.004878	1.83303e-20	34	51				
EXOC4	60412	broad.mit.edu	37	7	133622741	133622741	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:133622741G>A	ENST00000253861.4	+	14	2154	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	EXOC4_ENST00000539845.1_Missense_Mutation_p.A608T|EXOC4_ENST00000541309.1_5'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.A319T	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	709					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TGACCTCAAAGCCTTGGCCAA	0.463																																							uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2125-2127)GCC>ACC		SEC8 protein isoform a							145.0	127.0	133.0					7																	133622741		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133622741G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2125G>A	7.37:g.133622741G>A	ENSP00000253861:p.Ala709Thr					EXOC4_uc011kpo.1_Missense_Mutation_p.A608T|EXOC4_uc003vrl.2_Missense_Mutation_p.A319T|EXOC4_uc011kpp.1_Missense_Mutation_p.A241T|EXOC4_uc011kpq.1_5'UTR	p.A709T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			14	2160	+		Esophageal squamous(399;0.129)	709					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2125G>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117127	0.77323	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	5.74	4.85	0.62838	.	0.051366	0.85682	D	0.000000	T	0.61527	0.2354	L	0.50333	1.59	0.80722	D	1	P;B;D	0.59357	0.942;0.27;0.985	P;B;P	0.53518	0.487;0.253;0.728	T	0.57659	-0.7773	9	0.17832	T	0.49	.	14.9452	0.71026	0.0687:0.0:0.9313:0.0	.	241;319;709	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	T	709;328;608;319	.	ENSP00000253861:A709T	A	+	1	0	EXOC4	133273281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.917000	0.87498	1.557000	0.49525	0.561000	0.74099	GCC		0.463	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		35	65	0	0	0	0.003755	0	35	65				
AKR1B10	57016	broad.mit.edu	37	7	134215442	134215442	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:134215442A>G	ENST00000359579.4	+	2	434	c.114A>G	c.(112-114)gcA>gcG	p.A38A	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	38					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCATTGATGCAGGATATCGGC	0.458																																							uc003vrr.2		NA																	0				skin(5)	5						c.(112-114)GCA>GCG		aldo-keto reductase family 1, member B10							116.0	114.0	114.0					7																	134215442		2203	4300	6503	SO:0001819	synonymous_variant	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134215442A>G	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.114A>G	7.37:g.134215442A>G							p.A38A	NM_020299	NP_064695	O60218	AK1BA_HUMAN			2	434	+			38					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Silent	SNP	ENST00000359579.4	37	c.114A>G	CCDS5832.1																																																																																				0.458	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		15	106	0	0	0	0.003163	0	15	106				
CALD1	800	broad.mit.edu	37	7	134617956	134617956	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:134617956A>G	ENST00000361675.2	+	5	665	c.436A>G	c.(436-438)Act>Gct	p.T146A	CALD1_ENST00000361901.2_Missense_Mutation_p.T146A|CALD1_ENST00000422748.1_Missense_Mutation_p.T146A|CALD1_ENST00000543443.1_Missense_Mutation_p.T151A|CALD1_ENST00000361388.2_Missense_Mutation_p.T146A|CALD1_ENST00000495522.1_Missense_Mutation_p.T140A|CALD1_ENST00000424922.1_Missense_Mutation_p.T140A|CALD1_ENST00000417172.1_Missense_Mutation_p.T146A|CALD1_ENST00000393118.2_Missense_Mutation_p.T140A			Q05682	CALD1_HUMAN	caldesmon 1	146	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AGAAAATGAAACTACCGAGAA	0.458																																							uc003vrz.2		NA																	0					0						c.(436-438)ACT>GCT		caldesmon 1 isoform 1							44.0	44.0	44.0					7																	134617956		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134617956A>G	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.436A>G	7.37:g.134617956A>G	ENSP00000354826:p.Thr146Ala					CALD1_uc003vry.2_Missense_Mutation_p.T146A|CALD1_uc003vsa.2_Missense_Mutation_p.T146A|CALD1_uc003vsb.2_Missense_Mutation_p.T146A|CALD1_uc010lmm.2_Missense_Mutation_p.T146A|CALD1_uc011kpt.1_5'UTR|CALD1_uc003vsc.2_Missense_Mutation_p.T140A|CALD1_uc003vsd.2_Missense_Mutation_p.T140A|CALD1_uc011kpu.1_Missense_Mutation_p.T151A|CALD1_uc011kpv.1_Missense_Mutation_p.T10A|CALD1_uc003vse.2_Missense_Mutation_p.T10A	p.T146A	NM_033138	NP_149129	Q05682	CALD1_HUMAN			5	895	+			146			Myosin and calmodulin-binding (By similarity).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.436A>G	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	8.189	0.795589	0.16327	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;3.06;0.98;3.06	5.38	-3.2	0.05156	.	0.656130	0.13885	N	0.356007	T	0.19087	0.0458	N	0.20766	0.605	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.001;0.001;0.001;0.0	B;B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.002;0.001	T	0.30387	-0.9980	10	0.09843	T	0.71	-1.0799	6.2251	0.20703	0.4907:0.0:0.3891:0.1202	.	95;151;146;140;140;146;146;146;146	B4DPW5;F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;CALD1_HUMAN;.	A	146;146;146;146;146;146;140;140;140;151	ENSP00000398826:T146A;ENSP00000411476:T146A;ENSP00000355000:T146A;ENSP00000395710:T146A;ENSP00000354826:T146A;ENSP00000354513:T146A;ENSP00000376826:T140A;ENSP00000393621:T140A;ENSP00000419673:T140A;ENSP00000445641:T151A	ENSP00000355000:T146A	T	+	1	0	CALD1	134268496	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.019000	0.12546	-0.615000	0.05679	0.455000	0.32223	ACT		0.458	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		8	19	0	0	0	0.006214	0	8	19				
NUP205	23165	broad.mit.edu	37	7	135309933	135309933	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:135309933G>C	ENST00000285968.6	+	32	4527	c.4501G>C	c.(4501-4503)Gat>Cat	p.D1501H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1501					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGCTCTACTTGATAGAATTGT	0.413																																							uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4501-4503)GAT>CAT		nucleoporin 205kDa							150.0	138.0	142.0					7																	135309933		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135309933G>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4501G>C	7.37:g.135309933G>C	ENSP00000285968:p.Asp1501His					NUP205_uc003vsx.2_RNA	p.D1501H	NM_015135	NP_055950	Q92621	NU205_HUMAN			32	4532	+			1501					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4501G>C	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284771	0.80803	.	.	ENSG00000155561	ENST00000285968	T	0.39406	1.08	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71062	-0.4701	10	0.72032	D	0.01	-20.9475	19.3159	0.94213	0.0:0.0:1.0:0.0	.	1501	Q92621	NU205_HUMAN	H	1501	ENSP00000285968:D1501H	ENSP00000285968:D1501H	D	+	1	0	NUP205	134960473	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.727000	0.98787	2.565000	0.86533	0.563000	0.77884	GAT		0.413	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			18	99	0	0	0	0.00499	0	18	99				
DGKI	9162	broad.mit.edu	37	7	137080404	137080404	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:137080404G>T	ENST00000288490.5	-	33	3021	c.3021C>A	c.(3019-3021)aaC>aaA	p.N1007K	DGKI_ENST00000453654.2_Missense_Mutation_p.N676K|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.N989K|DGKI_ENST00000424189.2_Missense_Mutation_p.N1020K	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1007					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACACAGCCCGGTTCCGCTGGC	0.562																																							uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(3019-3021)AAC>AAA		diacylglycerol kinase, iota							74.0	65.0	68.0					7																	137080404		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137080404G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3021C>A	7.37:g.137080404G>T	ENSP00000288490:p.Asn1007Lys					DGKI_uc003vtu.2_Missense_Mutation_p.N676K	p.N1007K	NM_004717	NP_004708	O75912	DGKI_HUMAN			33	3022	-			1007			ANK 2.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.3021C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786831	0.49997	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.66638	-0.22;-0.22;-0.22	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.230912	0.43919	D	0.000503	T	0.61185	0.2327	L	0.43598	1.365	0.38032	D	0.93518	B;B	0.18741	0.004;0.03	B;B	0.26614	0.045;0.071	T	0.60424	-0.7266	10	0.40728	T	0.16	.	14.7038	0.69174	0.0719:0.0:0.9281:0.0	.	676;1007	E9PFX6;O75912	.;DGKI_HUMAN	K	676;924;1010;1007;989	ENSP00000392161:N676K;ENSP00000288490:N1007K;ENSP00000399131:N989K	ENSP00000288490:N1007K	N	-	3	2	DGKI	136730944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.812000	0.55628	2.652000	0.90054	0.650000	0.86243	AAC		0.562	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		15	72	1	0	7.05477e-17	0.00499	1.2532e-16	15	72				
TRIM24	8805	broad.mit.edu	37	7	138239468	138239468	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:138239468G>T	ENST00000343526.4	+	9	1502	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	TRIM24_ENST00000415680.2_Missense_Mutation_p.E429D|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	429					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGGATAAAGAGAGCCAGCCAC	0.373																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	0				central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1285-1287)GAG>GAT		transcriptional intermediary factor 1 alpha							79.0	82.0	81.0					7																	138239468		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138239468G>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1287G>T	7.37:g.138239468G>T	ENSP00000340507:p.Glu429Asp					TRIM24_uc003vub.2_Missense_Mutation_p.E429D	p.E429D	NM_015905	NP_056989	O15164	TIF1A_HUMAN			9	1502	+			429					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1287G>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472240	0.26423	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.76186	-1.0;-0.99	5.43	2.65	0.31530	.	0.132166	0.52532	D	0.000064	T	0.51856	0.1699	N	0.13043	0.29	0.32838	D	0.504941	B;B	0.14805	0.011;0.005	B;B	0.17979	0.004;0.02	T	0.49597	-0.8923	10	0.14656	T	0.56	-20.3657	7.9526	0.30023	0.3215:0.0:0.6785:0.0	.	429;429	O15164;O15164-2	TIF1A_HUMAN;.	D	429;340;429;387	ENSP00000340507:E429D;ENSP00000390829:E429D	ENSP00000340507:E429D	E	+	3	2	TRIM24	137890008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.800000	0.27042	0.667000	0.31107	0.557000	0.71058	GAG		0.373	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		40	60	1	0	1.96642e-18	0.006999	3.55251e-18	40	60				
BRAF	673	broad.mit.edu	37	7	140476711	140476711	+	Splice_Site	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:140476711C>T	ENST00000288602.6	-	13	1755		c.e13+1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase						activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATGGAACTTACTCCATGCCCT	0.363		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0				thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.e13+1		B-Raf	Sorafenib(DB00398)						94.0	90.0	91.0					7																	140476711		2203	4300	6503	SO:0001630	splice_region_variant	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140476711C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1694+1G>A	7.37:g.140476711C>T							p.D565_splice	NM_004333	NP_004324	P15056	BRAF_HUMAN			13	1755	-	Melanoma(164;0.00956)							A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Splice_Site	SNP	ENST00000288602.6	37	c.1694_splice	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857892	0.91433	.	.	ENSG00000157764	ENST00000496384;ENST00000288602	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8563	0.96761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRAF	140123180	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.792000	0.85828	2.704000	0.92352	0.585000	0.79938	.		0.363	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Intron	13	69	0	0	0	0.001855	0	13	69				
TAS2R5	54429	broad.mit.edu	37	7	141490554	141490554	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:141490554G>T	ENST00000247883.4	+	1	538	c.393G>T	c.(391-393)ctG>ctT	p.L131L		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	131					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GGTGCCTTCTGGGCTACTTTA	0.463																																							uc003vwr.1		NA																	0					0						c.(391-393)CTG>CTT		taste receptor T2R5							73.0	70.0	71.0					7																	141490554		2203	4300	6503	SO:0001819	synonymous_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490554G>T	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.393G>T	7.37:g.141490554G>T							p.L131L	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			1	538	+	Melanoma(164;0.0171)		131			Helical; Name=4; (Potential).		Q645W0|Q75MV7	Silent	SNP	ENST00000247883.4	37	c.393G>T	CCDS5869.1																																																																																				0.463	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			18	44	1	0	3.51602e-12	0.008871	5.67099e-12	18	44				
MGAM	8972	broad.mit.edu	37	7	141795484	141795484	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:141795484C>A	ENST00000549489.2	+	41	4985	c.4890C>A	c.(4888-4890)ggC>ggA	p.G1630G	MGAM_ENST00000475668.2_Silent_p.G2526G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1630	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.G1630G(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACGGAGGGCGTCACTGTTG	0.483																																							uc003vwy.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)	2						c.(4888-4890)GGC>GGA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						200.0	183.0	189.0					7																	141795484		1968	4147	6115	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141795484C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4890C>A	7.37:g.141795484C>A							p.G1630G	NM_004668	NP_004659	O43451	MGA_HUMAN			41	4944	+	Melanoma(164;0.0272)		1630			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4890C>A	CCDS47727.1																																																																																				0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			56	194	1	0	3.7469e-33	0.00361	7.23011e-33	56	194				
EPHB6	2051	broad.mit.edu	37	7	142561061	142561061	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:142561061G>T	ENST00000392957.2	+	5	863	c.76G>T	c.(76-78)Gtg>Ttg	p.V26L	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.V26L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	26						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)					GCTGCTCCTGGTGTCTTCAGT	0.567																																							uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(76-78)GTG>TTG		ephrin receptor EphB6 precursor							85.0	65.0	72.0					7																	142561061		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561061G>T	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.76G>T	7.37:g.142561061G>T	ENSP00000376684:p.Val26Leu					EPHB6_uc011ksu.1_Missense_Mutation_p.V26L|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	p.V26L	NM_004445	NP_004436	O15197	EPHB6_HUMAN			5	863	+	Melanoma(164;0.059)		26					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.76G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	1.175	-0.639766	0.03557	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.69306	-0.39;-0.39	5.35	4.39	0.52855	.	1.841150	0.03487	N	0.216029	T	0.44307	0.1287	N	0.08118	0	0.23988	N	0.996252	B	0.13594	0.008	B	0.09377	0.004	T	0.47686	-0.9098	10	0.02654	T	1	.	8.0846	0.30765	0.1092:0.0:0.8908:0.0	.	26	O15197	EPHB6_HUMAN	L	26	ENSP00000376684:V26L;ENSP00000410789:V26L	ENSP00000376684:V26L	V	+	1	0	EPHB6	142271183	0.932000	0.31603	0.483000	0.27378	0.295000	0.27426	2.961000	0.49168	2.785000	0.95823	0.655000	0.94253	GTG		0.567	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			3	51	1	0	0.004672	0.004672	0.00503002	3	51				
KEL	3792	broad.mit.edu	37	7	142651292	142651292	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:142651292C>G	ENST00000355265.2	-	8	1377	c.903G>C	c.(901-903)atG>atC	p.M301I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	301					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGATAGTGACCATCTGGAAGA	0.552																																							uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(901-903)ATG>ATC		Kell blood group, metallo-endopeptidase							40.0	43.0	42.0					7																	142651292		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651292C>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.903G>C	7.37:g.142651292C>G	ENSP00000347409:p.Met301Ile						p.M301I	NM_000420	NP_000411	P23276	KELL_HUMAN			8	1113	-	Melanoma(164;0.059)		301			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.903G>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116645	0.20795	.	.	ENSG00000197993	ENST00000355265	T	0.73363	-0.74	6.07	-4.09	0.03951	Peptidase M13 (1);	1.430540	0.03951	N	0.288429	T	0.63046	0.2478	L	0.51422	1.61	0.09310	N	1	B	0.20164	0.042	B	0.16722	0.016	T	0.48328	-0.9045	10	0.56958	D	0.05	-10.7952	1.1482	0.01780	0.2146:0.223:0.3392:0.2233	.	301	P23276	KELL_HUMAN	I	301	ENSP00000347409:M301I	ENSP00000347409:M301I	M	-	3	0	KEL	142361414	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.607000	0.05648	-0.408000	0.07565	0.585000	0.79938	ATG		0.552	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		12	26	0	0	0	0.010729	0	12	26				
FAM131B	9715	broad.mit.edu	37	7	143053913	143053913	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:143053913T>A	ENST00000409408.1	-	6	2437	c.729A>T	c.(727-729)ggA>ggT	p.G243G	FAM131B_ENST00000409578.1_Silent_p.G259G|FAM131B_ENST00000409346.1_Silent_p.G243G|FAM131B_ENST00000409222.3_Silent_p.G243G|FAM131B_ENST00000443739.2_Silent_p.G271G			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	243										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GAGCAGAGTATCCTGAAGCTG	0.602																																							uc003wct.2		NA																	0					0						c.(727-729)GGA>GGT		hypothetical protein LOC9715 isoform b							83.0	87.0	86.0					7																	143053913		2203	4300	6503	SO:0001819	synonymous_variant	9715							g.chr7:143053913T>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.729A>T	7.37:g.143053913T>A						FAM131B_uc010loz.2_Silent_p.G211G|FAM131B_uc003wcu.3_Silent_p.G243G|FAM131B_uc010lpa.2_Silent_p.G271G	p.G243G	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2435	-	Melanoma(164;0.205)		243					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Silent	SNP	ENST00000409408.1	37	c.729A>T	CCDS5882.1																																																																																				0.602	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		23	96	0	0	0	0.012319	0	23	96				
FAM131B	9715	broad.mit.edu	37	7	143053924	143053924	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:143053924G>T	ENST00000409408.1	-	6	2426	c.718C>A	c.(718-720)Cca>Aca	p.P240T	FAM131B_ENST00000409578.1_Missense_Mutation_p.P256T|FAM131B_ENST00000409346.1_Missense_Mutation_p.P240T|FAM131B_ENST00000409222.3_Missense_Mutation_p.P240T|FAM131B_ENST00000443739.2_Missense_Mutation_p.P268T			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	240										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTGAAGCTGGTTGGGAAGGT	0.602																																							uc003wct.2		NA																	0					0						c.(718-720)CCA>ACA		hypothetical protein LOC9715 isoform b							85.0	87.0	86.0					7																	143053924		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143053924G>T	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.718C>A	7.37:g.143053924G>T	ENSP00000387017:p.Pro240Thr					FAM131B_uc010loz.2_Missense_Mutation_p.P208T|FAM131B_uc003wcu.3_Missense_Mutation_p.P240T|FAM131B_uc010lpa.2_Missense_Mutation_p.P268T	p.P240T	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2424	-	Melanoma(164;0.205)		240					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.718C>A	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	7.687	0.690204	0.15039	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	4.93	4.03	0.46877	.	0.599767	0.17994	N	0.155135	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28808	-1.0032	10	0.18276	T	0.48	-0.0272	3.2342	0.06758	0.2:0.0:0.5702:0.2298	.	256;240	Q86XD5-2;Q86XD5	.;F131B_HUMAN	T	268;256;240;244;240;240	ENSP00000410603:P268T;ENSP00000386568:P256T;ENSP00000386984:P240T;ENSP00000387017:P240T;ENSP00000387147:P240T	ENSP00000387147:P240T	P	-	1	0	FAM131B	142764046	0.011000	0.17503	0.382000	0.26119	0.938000	0.57974	0.553000	0.23391	1.260000	0.44134	0.655000	0.94253	CCA		0.602	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		43	71	1	0	6.4771e-29	0.010771	1.23999e-28	43	71				
OR6B1	135946	broad.mit.edu	37	7	143701304	143701304	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:143701304G>T	ENST00000408922.2	+	1	283	c.215G>T	c.(214-216)tGg>tTg	p.W72L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGGAGACCTGGTACATCTCT	0.448																																							uc003wdt.1		NA																	0				ovary(1)	1						c.(214-216)TGG>TTG		olfactory receptor, family 6, subfamily B,							137.0	137.0	137.0					7																	143701304		2102	4265	6367	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701304G>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.215G>T	7.37:g.143701304G>T	ENSP00000386151:p.Trp72Leu						p.W72L	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	215	+	Melanoma(164;0.0783)		72			Helical; Name=2; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.215G>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089255	0.36855	.	.	ENSG00000221813	ENST00000408922	T	0.01313	5.02	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35207	U	0.003367	T	0.01523	0.0049	L	0.27053	0.805	0.33127	D	0.542531	B	0.06786	0.001	B	0.15484	0.013	T	0.34675	-0.9819	10	0.44086	T	0.13	.	11.7443	0.51811	0.0:0.1773:0.8227:0.0	.	72	O95007	OR6B1_HUMAN	L	72	ENSP00000386151:W72L	ENSP00000386151:W72L	W	+	2	0	OR6B1	143332237	0.608000	0.26966	1.000000	0.80357	0.983000	0.72400	3.962000	0.56766	2.666000	0.90696	0.557000	0.71058	TGG		0.448	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			23	105	1	0	1.96895e-08	0.00278	2.81278e-08	23	105				
TPK1	27010	broad.mit.edu	37	7	144345917	144345917	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:144345917C>G	ENST00000360057.3	-	5	343	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.E81Q|TPK1_ENST00000538212.2_Missense_Mutation_p.E76Q	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	81					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	GCATAGTATTCTCTGACTTCA	0.308																																					Ovarian(45;88 1034 2073 5829 28455)	Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	0				ovary(2)	2						c.(241-243)GAA>CAA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						101.0	115.0	110.0					7																	144345917		2203	4299	6502	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144345917C>G	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.241G>C	7.37:g.144345917C>G	ENSP00000353165:p.Glu81Gln					TPK1_uc003weo.2_Missense_Mutation_p.E76Q|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.E81Q|TPK1_uc003wes.2_RNA	p.E81Q	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			5	344	-			81					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.241G>C	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489848	0.44249	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.92	5.92	0.95590	Thiamin pyrophosphokinase, catalytic domain (3);	0.369488	0.32608	N	0.005870	T	0.80798	0.4692	L	0.52266	1.64	0.80722	D	1	B;B;B	0.32409	0.166;0.027;0.37	B;B;B	0.35607	0.049;0.022;0.206	T	0.77574	-0.2537	10	0.34782	T	0.22	-8.1072	15.8207	0.78638	0.0:1.0:0.0:0.0	.	81;81;76	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	Q	81;76;81;81	ENSP00000353165:E81Q;ENSP00000438813:E76Q;ENSP00000367339:E81Q;ENSP00000448655:E81Q	ENSP00000353165:E81Q	E	-	1	0	TPK1	143976850	0.841000	0.29509	0.778000	0.31720	0.842000	0.47809	3.114000	0.50383	2.809000	0.96659	0.655000	0.94253	GAA		0.308	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		15	128	0	0	0	0.003163	0	15	128				
CNTNAP2	26047	broad.mit.edu	37	7	147869463	147869463	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:147869463C>T	ENST00000361727.3	+	18	3419	c.2903C>T	c.(2902-2904)aCc>aTc	p.T968I	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T27I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	968	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCATTGCACCAGCTATGGA	0.493										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2902-2904)ACC>ATC		cell recognition molecule Caspr2 precursor							125.0	120.0	121.0					7																	147869463		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869463C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2903C>T	7.37:g.147869463C>T	ENSP00000354778:p.Thr968Ile	HNSCC(39;0.1)					p.T968I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3419	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	968			EGF-like 2.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2903C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561449	0.65538	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79653	-1.29;-1.29	5.28	4.38	0.52667	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.62723	1.935	0.46701	D	0.999166	B	0.21905	0.062	B	0.20955	0.032	T	0.75534	-0.3284	10	0.51188	T	0.08	.	14.5304	0.67920	0.0:0.8524:0.1476:0.0	.	968	Q9UHC6	CNTP2_HUMAN	I	968;27	ENSP00000354778:T968I;ENSP00000440732:T27I	ENSP00000354778:T968I	T	+	2	0	CNTNAP2	147500396	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	3.865000	0.56033	1.196000	0.43129	0.563000	0.77884	ACC		0.493	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			18	94	0	0	0	0.008871	0	18	94				
CNTNAP2	26047	broad.mit.edu	37	7	148080953	148080953	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:148080953C>A	ENST00000361727.3	+	22	4204	c.3688C>A	c.(3688-3690)Ccc>Acc	p.P1230T	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P289T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1230					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCACCGACCCCTGGCACCT	0.587										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3688-3690)CCC>ACC		cell recognition molecule Caspr2 precursor							19.0	21.0	20.0					7																	148080953		2202	4300	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148080953C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3688C>A	7.37:g.148080953C>A	ENSP00000354778:p.Pro1230Thr	HNSCC(39;0.1)				CNTNAP2_uc003wev.1_Missense_Mutation_p.P7T	p.P1230T	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		22	4204	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1230			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3688C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446731	0.84101	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.89196	-2.48;2.7	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	L	0.49640	1.575	0.58432	D	0.99999	D	0.55800	0.973	P	0.49528	0.614	D	0.88437	0.3039	10	0.38643	T	0.18	.	18.8987	0.92433	0.0:1.0:0.0:0.0	.	1230	Q9UHC6	CNTP2_HUMAN	T	1230;289	ENSP00000354778:P1230T;ENSP00000440732:P289T	ENSP00000354778:P1230T	P	+	1	0	CNTNAP2	147711886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.809000	0.96659	0.655000	0.94253	CCC		0.587	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			9	32	1	0	0.000442599	0.006214	0.000502282	9	32				
ZNF467	168544	broad.mit.edu	37	7	149462026	149462026	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:149462026C>G	ENST00000302017.3	-	5	1978	c.1565G>C	c.(1564-1566)cGc>cCc	p.R522P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGAAGCTGCGGGCGCAGAC	0.701																																							uc003wgd.2		NA																	0					0						c.(1564-1566)CGC>CCC		zinc finger protein 467							33.0	39.0	37.0					7																	149462026		2196	4293	6489	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462026C>G	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1565G>C	7.37:g.149462026C>G	ENSP00000304769:p.Arg522Pro					ZNF467_uc003wgc.2_Intron	p.R522P	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1706	-	Melanoma(164;0.165)|Ovarian(565;0.177)		522			C2H2-type 11.			Missense_Mutation	SNP	ENST00000302017.3	37	c.1565G>C	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241785	0.58995	.	.	ENSG00000181444	ENST00000302017	T	0.16196	2.36	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.276112	0.19252	N	0.118891	T	0.47078	0.1426	M	0.91196	3.185	0.35783	D	0.821777	D	0.76494	0.999	D	0.72338	0.977	T	0.64659	-0.6355	10	0.87932	D	0	-11.9164	10.673	0.45770	0.0:0.9022:0.0:0.0978	.	522	Q7Z7K2	ZN467_HUMAN	P	522	ENSP00000304769:R522P	ENSP00000304769:R522P	R	-	2	0	ZNF467	149092959	0.005000	0.15991	1.000000	0.80357	0.984000	0.73092	0.166000	0.16583	1.989000	0.58080	0.462000	0.41574	CGC		0.701	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		5	52	0	0	0	0.000602	0	5	52				
SSPO	23145	broad.mit.edu	37	7	149477177	149477177	+	RNA	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:149477177A>T	ENST00000378016.2	+	0	1354							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTGTGCCAGGCGGCACAT	0.657																																							uc010lpk.2		NA																	0					0						c.(1354-1356)AGG>TGG		SCO-spondin precursor							20.0	21.0	21.0					7																	149477177		2028	4174	6202			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477177A>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477177A>T						SSPO_uc010lpl.1_Intron	p.R452W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		11	1354	+	Melanoma(164;0.165)|Ovarian(565;0.177)		452					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.1354A>T																																																																																					0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	9	0	0	0	0.009096	0	4	9				
SSPO	23145	broad.mit.edu	37	7	149490413	149490413	+	RNA	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:149490413C>A	ENST00000378016.2	+	0	5889							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGACGGAGCCCTGTGAGGGGT	0.642																																							uc010lpk.2		NA																	0					0						c.(5887-5889)CCC>CCA		SCO-spondin precursor							24.0	28.0	27.0					7																	149490413		1976	4159	6135			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149490413C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149490413C>A							p.P1963P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		40	5889	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1963			TSP type-1 3.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.5889C>A																																																																																					0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				11	43	1	0	9.05144e-12	0.001855	1.44077e-11	11	43				
SSPO	23145	broad.mit.edu	37	7	149493717	149493717	+	RNA	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:149493717G>T	ENST00000378016.2	+	0	6713							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGGGTTGGACTCCGCTGT	0.657																																							uc010lpk.2		NA																	0					0						c.(6712-6714)GGA>GTA		SCO-spondin precursor							81.0	86.0	85.0					7																	149493717		2104	4215	6319			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493717G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493717G>T							p.G2238V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		46	6713	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2238			LDL-receptor class A 8.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6713G>T																																																																																					0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				17	21	1	0	1.02788e-11	0.00499	1.63461e-11	17	21				
REPIN1	29803	broad.mit.edu	37	7	150069097	150069097	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:150069097G>T	ENST00000425389.2	+	1	845	c.767G>T	c.(766-768)cGc>cTc	p.R256L	REPIN1_ENST00000540729.1_Missense_Mutation_p.R256L|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.R256L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R256L|REPIN1_ENST00000489432.2_Missense_Mutation_p.R313L|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	256					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCTCACCGCCGCGTGCACACG	0.682																																							uc010lpq.1		NA																	0				pancreas(1)	1						c.(766-768)CGC>CTC		replication initiator 1 isoform 1							21.0	25.0	24.0					7																	150069097		2096	4221	6317	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069097G>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.767G>T	7.37:g.150069097G>T	ENSP00000388287:p.Arg256Leu					REPIN1_uc003whd.2_Missense_Mutation_p.R245L|REPIN1_uc010lpr.1_Missense_Mutation_p.R313L|REPIN1_uc003whc.2_Missense_Mutation_p.R256L|REPIN1_uc003whe.2_Missense_Mutation_p.R256L	p.R256L	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1256	+	Ovarian(565;0.183)|Melanoma(164;0.226)		256			C2H2-type 6.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.767G>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460842	0.84317	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	4.83	4.83	0.62350	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39572	0.1083	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.24657	-1.0154	9	0.66056	D	0.02	-24.5936	15.4597	0.75346	0.0:0.0:1.0:0.0	.	313;256	C9J3L7;Q9BWE0	.;REPI1_HUMAN	L	256;256;256;313;315;316;256	ENSP00000445016:R256L;ENSP00000380451:R256L;ENSP00000407714:R256L;ENSP00000417291:R313L;ENSP00000419789:R315L;ENSP00000419872:R316L;ENSP00000388287:R256L	ENSP00000380451:R256L	R	+	2	0	REPIN1	149700030	0.001000	0.12720	0.985000	0.45067	0.992000	0.81027	1.128000	0.31369	2.495000	0.84180	0.462000	0.41574	CGC		0.682	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		9	51	1	0	0.00621372	0.006214	0.00666455	9	51				
ZNF775	285971	broad.mit.edu	37	7	150094380	150094380	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:150094380G>T	ENST00000329630.5	+	3	918	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	271					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(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgcggtctccggccccgaggg	0.756																																							uc003whf.1		NA																	0					0						c.(811-813)GGC>TGC		zinc finger protein 775							4.0	5.0	5.0					7																	150094380		1615	3640	5255	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094380G>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.811G>T	7.37:g.150094380G>T	ENSP00000330838:p.Gly271Cys						p.G271C	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	936	+	Ovarian(565;0.183)|Melanoma(164;0.226)		271					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.811G>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	2.295	-0.361497	0.05103	.	.	ENSG00000196456	ENST00000329630	T	0.09723	2.95	4.38	-3.28	0.05033	.	.	.	.	.	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	P	0.38129	0.619	B	0.37888	0.26	T	0.38265	-0.9669	8	.	.	.	.	5.7918	0.18365	0.2974:0.373:0.3296:0.0	.	271	Q96BV0	ZN775_HUMAN	C	271	ENSP00000330838:G271C	.	G	+	1	0	ZNF775	149725313	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.027000	0.12371	-1.062000	0.03181	-2.279000	0.00272	GGC		0.756	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		8	5	1	0	5.18039e-06	0.00308	6.58689e-06	8	5				
GIMAP4	55303	broad.mit.edu	37	7	150267034	150267034	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:150267034A>T	ENST00000255945.2	+	2	220	c.45A>T	c.(43-45)ccA>ccT	p.P15P	GIMAP4_ENST00000461940.1_Silent_p.P15P|GIMAP4_ENST00000494750.1_Intron	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	15						cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCACACCAGGGGCCAGTT	0.557																																							uc003whl.2		NA																	0				ovary(1)	1						c.(43-45)CCA>CCT		GTPase, IMAP family member 4							79.0	69.0	72.0					7																	150267034		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150267034A>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.45A>T	7.37:g.150267034A>T						GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Silent_p.P15P	p.P15P	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	127	+			15						Silent	SNP	ENST00000255945.2	37	c.45A>T	CCDS5904.1																																																																																				0.557	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		16	51	0	0	0	0.007413	0	16	51				
NOS3	4846	broad.mit.edu	37	7	150698406	150698406	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:150698406T>A	ENST00000484524.1	+	10	1321	c.1321T>A	c.(1321-1323)Tgc>Agc	p.C441S	NOS3_ENST00000461406.1_Missense_Mutation_p.C235S|NOS3_ENST00000467517.1_Missense_Mutation_p.C441S|NOS3_ENST00000297494.3_Missense_Mutation_p.C441S	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGGGGGGCTGCCCTGCAGA	0.617																																							uc003wif.2		NA																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1321-1323)TGC>AGC		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						59.0	60.0	60.0					7																	150698406		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698406T>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1321T>A	7.37:g.150698406T>A	ENSP00000420215:p.Cys441Ser					NOS3_uc011kuy.1_Missense_Mutation_p.C235S|NOS3_uc011kuz.1_Missense_Mutation_p.C441S|NOS3_uc011kva.1_Missense_Mutation_p.C441S|NOS3_uc011kvb.1_Missense_Mutation_p.C441S	p.C441S	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1617	+	all_neural(206;0.219)		441			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1321T>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749450	0.89753	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.64402	D	0.000003	T	0.67618	0.2912	M	0.92784	3.345	0.54753	D	0.999983	D;D;D;D;D	0.89917	0.998;0.983;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.968;0.949;1.0;1.0;0.992	T	0.76225	-0.3037	10	0.87932	D	0	-20.378	12.8948	0.58093	0.0:0.0:0.0:1.0	.	441;441;441;235;441	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	S	441;235;441;441	ENSP00000297494:C441S;ENSP00000417143:C235S;ENSP00000420215:C441S;ENSP00000420551:C441S	ENSP00000297494:C441S	C	+	1	0	NOS3	150329339	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.035000	0.88872	1.923000	0.55706	0.459000	0.35465	TGC		0.617	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		57	67	0	0	0	0.00361	0	57	67				
ASIC3	9311	broad.mit.edu	37	7	150746083	150746083	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:150746083C>A	ENST00000349064.5	+	1	309	c.111C>A	c.(109-111)agC>agA	p.S37R	ASIC3_ENST00000357922.4_Missense_Mutation_p.S37R|ASIC3_ENST00000297512.8_Missense_Mutation_p.S37R	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	37					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										GGCCAGGCAGCCTGAGCCTGC	0.697																																							uc003win.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(109-111)AGC>AGA		amiloride-sensitive cation channel 3 isoform a							39.0	42.0	41.0					7																	150746083		2203	4298	6501	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746083C>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.111C>A	7.37:g.150746083C>A	ENSP00000344838:p.Ser37Arg					ACCN3_uc003wio.2_Missense_Mutation_p.S37R|ACCN3_uc003wip.2_Missense_Mutation_p.S37R|ACCN3_uc003wiq.2_RNA	p.S37R	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	479	+			37			Cytoplasmic (Potential).		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.111C>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.268917	0.01433	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.61742	0.08;0.08;0.08	4.98	0.687	0.18020	.	.	.	.	.	T	0.20861	0.0502	N	0.01505	-0.83	0.22199	N	0.999294	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.11329	0.002;0.003;0.006	T	0.32640	-0.9899	9	0.05620	T	0.96	-8.0406	4.132	0.10154	0.1524:0.3226:0.4339:0.0911	.	37;37;37	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	R	37	ENSP00000350600:S37R;ENSP00000344838:S37R;ENSP00000297512:S37R	ENSP00000297512:S37R	S	+	3	2	ACCN3	150377016	0.000000	0.05858	0.013000	0.15412	0.125000	0.20455	-0.048000	0.11944	0.576000	0.29452	-0.521000	0.04368	AGC		0.697	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		10	53	1	0	3.86212e-05	0.008291	4.67636e-05	10	53				
SLC4A2	6522	broad.mit.edu	37	7	150764060	150764060	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:150764060G>T	ENST00000485713.1	+	7	1986	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S	SLC4A2_ENST00000310317.5_Missense_Mutation_p.A234S|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A307S|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A302S|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A316S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	316	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGACCCCGGGCCCCCCACAA	0.632																																							uc003wit.3		NA																	0					0						c.(946-948)GCC>TCC		solute carrier family 4, anion exchanger, member							35.0	48.0	44.0					7																	150764060		2202	4299	6501	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150764060G>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.946G>T	7.37:g.150764060G>T	ENSP00000419412:p.Ala316Ser					SLC4A2_uc011kve.1_Missense_Mutation_p.A307S|SLC4A2_uc003wiu.3_Missense_Mutation_p.A302S	p.A316S	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1202	+			316			Cytoplasmic (Potential).|Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.946G>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850409	0.32699	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.9	4.65	2.49	0.30216	.	0.312841	0.31010	N	0.008425	T	0.51176	0.1659	N	0.22421	0.69	0.28327	N	0.921982	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.28138	-1.0053	10	0.08179	T	0.78	.	5.4312	0.16454	0.1262:0.2134:0.6604:0.0	.	307;302;316	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	S	316;316;234;307;302	ENSP00000419412:A316S;ENSP00000405600:A316S;ENSP00000311402:A234S;ENSP00000376571:A307S;ENSP00000419164:A302S	ENSP00000311402:A234S	A	+	1	0	SLC4A2	150394993	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.364000	0.44187	1.009000	0.39289	0.462000	0.41574	GCC		0.632	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		13	87	1	0	3.27435e-08	0.00245	4.64253e-08	13	87				
DLGAP2	9228	broad.mit.edu	37	8	1497162	1497162	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:1497162G>T	ENST00000421627.2	+	2	437	c.303G>T	c.(301-303)gcG>gcT	p.A101A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	180					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGGCCCACGCGGGCGCCAAGA	0.672																																							uc003wpl.2		NA																	0					0						c.(301-303)GCG>GCT		discs large-associated protein 2							13.0	15.0	14.0					8																	1497162		2195	4286	6481	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497162G>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.303G>T	8.37:g.1497162G>T						DLGAP2_uc003wpm.2_Silent_p.A101A	p.A101A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	400	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	180					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.303G>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	0.501	-0.870896	0.02570	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.13586	0.0329	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08617	-1.0713	4	.	.	.	0.1091	1.2828	0.02044	0.2142:0.3053:0.2912:0.1893	.	.	.	.	L	118	.	.	R	+	2	0	DLGAP2	1484569	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.830000	0.01699	-4.431000	0.00049	-1.083000	0.02208	CGG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		5	11	1	0	1.23904e-05	0.000602	1.53974e-05	5	11				
MYOM2	9172	broad.mit.edu	37	8	2077162	2077162	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:2077162C>G	ENST00000262113.4	+	32	3883	c.3742C>G	c.(3742-3744)Cga>Gga	p.R1248G	MYOM2_ENST00000523438.1_Missense_Mutation_p.R673G	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1248					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGAAGGAATACGACTTCAGTG	0.453																																							uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3742-3744)CGA>GGA		myomesin 2							86.0	82.0	83.0					8																	2077162		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2077162C>G		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3742C>G	8.37:g.2077162C>G	ENSP00000262113:p.Arg1248Gly					MYOM2_uc011kwi.1_Missense_Mutation_p.R673G	p.R1248G	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	32	3880	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1248					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.3742C>G	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	c	10.78	1.446499	0.25987	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.36699	1.24;1.24	5.6	-6.44	0.01920	Immunoglobulin-like fold (1);	0.057139	0.64402	D	0.000001	T	0.37128	0.0992	M	0.61703	1.905	0.09310	N	1	B	0.27416	0.178	B	0.30782	0.12	T	0.19647	-1.0299	10	0.72032	D	0.01	.	22.2077	0.99968	0.2044:0.7956:0.0:0.0	.	1248	P54296	MYOM2_HUMAN	G	1248;673	ENSP00000262113:R1248G;ENSP00000428396:R673G	ENSP00000262113:R1248G	R	+	1	2	MYOM2	2064569	0.444000	0.25649	0.000000	0.03702	0.440000	0.31957	0.115000	0.15540	-1.525000	0.01762	-0.603000	0.04100	CGA		0.453	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		8	18	0	0	0	0.004482	0	8	18				
CSMD1	64478	broad.mit.edu	37	8	2857553	2857553	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:2857553G>C	ENST00000520002.1	-	54	8688	c.8133C>G	c.(8131-8133)ttC>ttG	p.F2711L	CSMD1_ENST00000542608.1_Missense_Mutation_p.F2652L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F2653L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F2653L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F2711L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F2710L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2711	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACAAGCCGGAAACCAGGAT	0.532																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8131-8133)TTC>TTG		CUB and Sushi multiple domains 1 precursor							148.0	147.0	147.0					8																	2857553		1953	4153	6106	SO:0001583	missense	64478					integral to membrane		g.chr8:2857553G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8133C>G	8.37:g.2857553G>C	ENSP00000430733:p.Phe2711Leu					CSMD1_uc011kwj.1_Missense_Mutation_p.F2040L|CSMD1_uc010lrg.2_Missense_Mutation_p.F721L	p.F2711L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8523	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2711			Extracellular (Potential).|Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8133C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.315672|3.315672	0.60524|0.60524	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.31247|.	1.5;1.5;1.5;1.5|.	5.77|5.77	1.91|1.91	0.25777|0.25777	Complement control module (2);Sushi/SCR/CCP (3);|.	0.070141|.	0.64402|.	D|.	0.000014|.	T|T	0.69178|0.69178	0.3082|0.3082	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	D;P;P|.	0.59357|.	0.985;0.942;0.516|.	D;P;P|.	0.72338|.	0.977;0.868;0.452|.	T|T	0.66528|0.66528	-0.5901|-0.5901	10|5	0.72032|.	D|.	0.01|.	.|.	9.8941|9.8941	0.41306|0.41306	0.3922:0.0:0.6078:0.0|0.3922:0.0:0.6078:0.0	.|.	2711;2711;2652|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	L|A	2653;2711;2572;2710;2652|2128	ENSP00000383047:F2653L;ENSP00000430733:F2711L;ENSP00000441462:F2710L;ENSP00000446243:F2652L|.	ENSP00000320445:F2572L|.	F|P	-|-	3|1	2|0	CSMD1|CSMD1	2844960|2844960	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.220000|0.220000	0.24768|0.24768	1.556000|1.556000	0.36288|0.36288	0.437000|0.437000	0.26423|0.26423	0.655000|0.655000	0.94253|0.94253	TTC|CCG		0.532	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	72	0	0	0	0.012319	0	19	72				
CSMD1	64478	broad.mit.edu	37	8	2875998	2875998	+	Splice_Site	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:2875998C>A	ENST00000520002.1	-	53	8588		c.e53+1		CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATGAATTTACCCAGACATCG	0.438																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.e52+1		CUB and Sushi multiple domains 1 precursor							173.0	169.0	170.0					8																	2875998		1935	4145	6080	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2875998C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8032+1G>T	8.37:g.2875998C>A						CSMD1_uc011kwj.1_Splice_Site_p.A2007_splice|CSMD1_uc010lrg.2_Intron	p.A2678_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8422	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37	c.8032_splice		.	.	.	.	.	.	.	.	.	.	C	22.0	4.227845	0.79576	.	.	ENSG00000183117	ENST00000335551;ENST00000520002;ENST00000318252;ENST00000537824	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0734	0.93150	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2863405	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.612000	0.82975	2.574000	0.86865	0.650000	0.86243	.		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	30	97	1	0	1.39806e-14	0.008361	2.41289e-14	30	97				
HR	55806	broad.mit.edu	37	8	21978634	21978634	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:21978634A>G	ENST00000381418.4	-	10	3791	c.2311T>C	c.(2311-2313)Ttg>Ctg	p.L771L	HR_ENST00000312841.8_Silent_p.L771L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	771					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)		TCATGGCCCAAGCAGAGTTTG	0.652																																							uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2311-2313)TTG>CTG		hairless protein isoform a							82.0	89.0	87.0					8																	21978634		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21978634A>G	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.2311T>C	8.37:g.21978634A>G						HR_uc003xat.2_Silent_p.L771L	p.L771L	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)	10	2976	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	771					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.2311T>C	CCDS6022.1																																																																																				0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			15	61	0	0	0	0.003163	0	15	61				
PEBP4	157310	broad.mit.edu	37	8	22570953	22570953	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:22570953G>T	ENST00000256404.6	-	7	705	c.614C>A	c.(613-615)aCc>aAc	p.T205N	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	205						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		AGCCTGGAGGGTTGGTGAGTC	0.572																																							uc003xcn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(613-615)ACC>AAC		phosphatidylethanolamine-binding protein 4							86.0	94.0	91.0					8																	22570953		1990	4153	6143	SO:0001583	missense	157310					lysosome		g.chr8:22570953G>T	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.614C>A	8.37:g.22570953G>T	ENSP00000256404:p.Thr205Asn						p.T205N	NM_144962	NP_659399	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	7	706	-		Prostate(55;0.0453)|Breast(100;0.103)	205					Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	c.614C>A	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	G	3.830	-0.036005	0.07497	.	.	ENSG00000134020	ENST00000256404	T	0.44482	0.92	4.84	-9.69	0.00524	.	7.381340	0.00166	N	0.000005	T	0.15609	0.0376	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	10	0.17369	T	0.5	4.5663	3.8175	0.08821	0.2194:0.5006:0.1286:0.1513	.	205	Q96S96	PEBP4_HUMAN	N	205	ENSP00000256404:T205N	ENSP00000256404:T205N	T	-	2	0	PEBP4	22626898	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.424000	0.02448	-3.255000	0.00203	-0.304000	0.09214	ACC		0.572	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		10	18	1	0	1.08611e-07	0.010729	1.49384e-07	10	18				
ESCO2	157570	broad.mit.edu	37	8	27634552	27634552	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:27634552G>T	ENST00000305188.8	+	3	965	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	243					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGTCATTGAAGATTCTGATGT	0.388									SC Phocomelia syndrome																														uc003xgg.2		NA																	0				central_nervous_system(1)	1						c.(727-729)GAT>TAT		establishment of cohesion 1 homolog 2							54.0	58.0	56.0					8																	27634552		2203	4299	6502	SO:0001583	missense	157570	SC_Phocomelia_syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634552G>T	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.727G>T	8.37:g.27634552G>T	ENSP00000306999:p.Asp243Tyr					ESCO2_uc010luy.1_RNA|ESCO2_uc003xgh.2_Missense_Mutation_p.D243Y	p.D243Y	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	810	+		Ovarian(32;0.000953)	243					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.727G>T	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881761	0.33255	.	.	ENSG00000171320	ENST00000305188	T	0.66638	-0.22	5.83	3.73	0.42828	.	0.840303	0.11006	N	0.609976	T	0.75332	0.3835	L	0.56769	1.78	0.44677	D	0.997665	D;D	0.69078	0.997;0.986	D;P	0.63192	0.912;0.671	T	0.72571	-0.4253	10	0.62326	D	0.03	-5.7482	8.9813	0.35966	0.1935:0.0:0.8065:0.0	.	243;243	E5RFE4;Q56NI9	.;ESCO2_HUMAN	Y	243	ENSP00000306999:D243Y	ENSP00000306999:D243Y	D	+	1	0	ESCO2	27690471	0.810000	0.29049	0.857000	0.33713	0.254000	0.26022	2.256000	0.43231	1.480000	0.48289	0.591000	0.81541	GAT		0.388	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		4	30	1	0	0.00024832	0.009096	0.000286393	4	30				
ZNF703	80139	broad.mit.edu	37	8	37556059	37556059	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:37556059C>G	ENST00000331569.4	+	2	1869	c.1640C>G	c.(1639-1641)cCc>cGc	p.P547R		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	547					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CGGTACCACCCCTATGGCAAG	0.677																																							uc003xjy.1		NA																	0				breast(1)|pancreas(1)	2						c.(1639-1641)CCC>CGC		zinc finger protein 703							19.0	19.0	19.0					8																	37556059		2200	4294	6494	SO:0001583	missense	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37556059C>G	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1640C>G	8.37:g.37556059C>G	ENSP00000332325:p.Pro547Arg						p.P547R	NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		2	1837	+			547					Q5XG76	Missense_Mutation	SNP	ENST00000331569.4	37	c.1640C>G	CCDS6094.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911008	0.72983	.	.	ENSG00000183779	ENST00000331569;ENST00000397235	T	0.71817	-0.6	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.81451	0.4825	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.84982	0.0889	10	0.87932	D	0	-15.63	15.6509	0.77091	0.0:1.0:0.0:0.0	.	547	Q9H7S9	ZN703_HUMAN	R	547;120	ENSP00000332325:P547R	ENSP00000332325:P547R	P	+	2	0	ZNF703	37675217	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.485000	0.81204	1.889000	0.54706	0.313000	0.20887	CCC		0.677	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		3	9	0	0	0	0.004672	0	3	9				
C8orf86	389649	broad.mit.edu	37	8	38369939	38369939	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:38369939C>A	ENST00000358138.1	-	3	662	c.638G>T	c.(637-639)gGg>gTg	p.G213V	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	213										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cacctgtgccccagaaagcac	0.547																																							uc003xlx.1		NA																	0					0						c.(637-639)GGG>GTG		hypothetical protein LOC389649							43.0	45.0	44.0					8																	38369939		2203	4300	6503	SO:0001583	missense	389649							g.chr8:38369939C>A	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.638G>T	8.37:g.38369939C>A	ENSP00000350856:p.Gly213Val						p.G213V	NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN			3	663	-			213					A4QPB7	Missense_Mutation	SNP	ENST00000358138.1	37	c.638G>T	CCDS6108.1	.	.	.	.	.	.	.	.	.	.	C	1.207	-0.630786	0.03584	.	.	ENSG00000196166	ENST00000358138	T	0.59224	0.28	1.54	0.354	0.16063	.	.	.	.	.	T	0.31420	0.0796	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.14023	0.01	T	0.21381	-1.0247	9	0.87932	D	0	.	3.1487	0.06480	0.0:0.2829:0.0:0.7171	.	213	Q6ZUL3	CH086_HUMAN	V	213	ENSP00000350856:G213V	ENSP00000350856:G213V	G	-	2	0	C8orf86	38489096	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.034000	0.13776	0.069000	0.16605	-0.339000	0.08088	GGG		0.547	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		9	26	1	0	0.000274275	0.004482	0.000314197	9	26				
ADAM32	203102	broad.mit.edu	37	8	39044509	39044509	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:39044509G>T	ENST00000379907.4	+	11	1124	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATCATATGACGACCCAAAGAA	0.348																																							uc003xmt.3		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(997-999)GAC>TAC		a disintegrin and metalloprotease domain 32							87.0	86.0	87.0					8																	39044509		1824	4088	5912	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39044509G>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.997G>T	8.37:g.39044509G>T	ENSP00000369238:p.Asp333Tyr					ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	p.D333Y	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		11	1242	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	333			Peptidase M12B.|Extracellular (Potential).		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.997G>T	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239437	0.58995	.	.	ENSG00000197140	ENST00000379907	T	0.10960	2.82	5.47	4.58	0.56647	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.475254	0.15536	U	0.257203	T	0.38506	0.1043	M	0.90922	3.16	0.29690	N	0.840991	D	0.63880	0.993	D	0.66847	0.947	T	0.45308	-0.9270	10	0.62326	D	0.03	.	10.9095	0.47099	0.0887:0.0:0.9113:0.0	.	333	Q8TC27	ADA32_HUMAN	Y	333	ENSP00000369238:D333Y	ENSP00000369238:D333Y	D	+	1	0	ADAM32	39163666	1.000000	0.71417	0.980000	0.43619	0.816000	0.46133	1.826000	0.39092	1.421000	0.47157	0.650000	0.86243	GAC		0.348	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		9	25	1	0	5.4927e-09	0.004482	8.0151e-09	9	25				
SLC20A2	6575	broad.mit.edu	37	8	42294897	42294897	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:42294897C>A	ENST00000342228.3	-	8	1502	c.1133G>T	c.(1132-1134)cGg>cTg	p.R378L	SLC20A2_ENST00000520262.1_Missense_Mutation_p.R378L|SLC20A2_ENST00000520179.1_Missense_Mutation_p.R378L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	378					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCGCAGCAGCCGGTAGTTGCT	0.597																																							uc010lxl.2		NA																	0				ovary(2)	2						c.(1132-1134)CGG>CTG		solute carrier family 20, member 2							111.0	110.0	110.0					8																	42294897		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42294897C>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1133G>T	8.37:g.42294897C>A	ENSP00000340465:p.Arg378Leu					SLC20A2_uc010lxm.2_Missense_Mutation_p.R378L|SLC20A2_uc003xpe.2_Missense_Mutation_p.R378L|SLC20A2_uc011lcu.1_Missense_Mutation_p.R180L	p.R378L	NM_006749	NP_006740	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		8	1827	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	378			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342228.3	37	c.1133G>T	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482069	0.44147	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91351	-2.83;-2.83;-2.83	5.63	3.59	0.41128	.	0.129175	0.53938	D	0.000043	D	0.82990	0.5157	L	0.35341	1.055	0.34219	D	0.67518	B	0.13145	0.007	B	0.28784	0.094	T	0.76192	-0.3049	10	0.10636	T	0.68	-15.6136	7.9415	0.29961	0.0:0.7612:0.0:0.2388	.	378	Q08357	S20A2_HUMAN	L	378	ENSP00000340465:R378L;ENSP00000429754:R378L;ENSP00000429712:R378L	ENSP00000340465:R378L	R	-	2	0	SLC20A2	42414054	1.000000	0.71417	0.003000	0.11579	0.039000	0.13416	3.846000	0.55888	1.375000	0.46248	0.655000	0.94253	CGG		0.597	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			30	78	1	0	8.4185e-14	0.012213	1.42261e-13	30	78				
SPIDR	23514	broad.mit.edu	37	8	48614372	48614372	+	Silent	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:48614372C>T	ENST00000297423.4	+	13	2247	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Silent_p.P96P|SPIDR_ENST00000541342.1_Silent_p.P551P|SPIDR_ENST00000518074.1_Silent_p.P561P	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	621					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											ACGAAGACCCCATTTATAAGC	0.413																																							uc003xqd.2		NA																	0					0						c.(1861-1863)CCC>CCT		hypothetical protein LOC23514							179.0	170.0	173.0					8																	48614372		1883	4101	5984	SO:0001819	synonymous_variant	23514							g.chr8:48614372C>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1863C>T	8.37:g.48614372C>T						KIAA0146_uc011ldb.1_Silent_p.P621P|KIAA0146_uc010lxs.2_Silent_p.P96P|KIAA0146_uc011ldc.1_Silent_p.P551P|KIAA0146_uc011ldd.1_Silent_p.P561P|KIAA0146_uc003xqe.2_Silent_p.P96P|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Silent_p.P310P|KIAA0146_uc010lxt.2_Silent_p.P310P|KIAA0146_uc011ldf.1_Silent_p.P126P|KIAA0146_uc011ldg.1_Silent_p.P111P|KIAA0146_uc010lxv.1_Silent_p.P115P	p.P621P	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			13	1872	+		Lung NSC(58;0.175)	621					B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.1863C>T	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	2.017	-0.425659	0.04701	.	.	ENSG00000164808	ENST00000519401	.	.	.	5.37	-2.73	0.05950	.	1.019140	0.07799	N	0.956255	T	0.23330	0.0564	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36114	-0.9761	6	0.46703	T	0.11	.	0.2568	0.00213	0.2269:0.2321:0.1945:0.3465	.	.	.	.	L	303	.	ENSP00000429193:P303L	P	+	2	0	KIAA0146	48776925	0.000000	0.05858	0.004000	0.12327	0.362000	0.29581	-0.336000	0.07863	-0.018000	0.14079	0.650000	0.86243	CCA		0.413	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		31	123	0	0	0	0.010818	0	31	123				
RB1CC1	9821	broad.mit.edu	37	8	53555277	53555277	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:53555277T>C	ENST00000025008.5	-	17	4606	c.4083A>G	c.(4081-4083)caA>caG	p.Q1361Q	RB1CC1_ENST00000539297.1_Silent_p.Q1361Q|RB1CC1_ENST00000435644.2_Silent_p.Q1361Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1361					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TATCCCGTTCTTGTTGCTGCA	0.274																																					GBM(180;1701 2102 13475 42023 52570)	GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NA																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(4081-4083)CAA>CAG		Rb1-inducible coiled coil protein 1 isoform 1							128.0	120.0	123.0					8																	53555277		2201	4300	6501	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53555277T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4083A>G	8.37:g.53555277T>C						RB1CC1_uc003xrf.3_Silent_p.Q1361Q	p.Q1361Q	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			17	4641	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1361			Potential.		Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.4083A>G	CCDS34892.1																																																																																				0.274	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		12	18	0	0	0	0.001368	0	12	18				
CHD7	55636	broad.mit.edu	37	8	61766937	61766937	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:61766937G>A	ENST00000423902.2	+	32	7270	c.6791G>A	c.(6790-6792)aGa>aAa	p.R2264K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2264					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGTCTCTAGAGGGAAGAAT	0.413																																							uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6790-6792)AGA>AAA		chromodomain helicase DNA binding protein 7							97.0	89.0	92.0					8																	61766937		1841	4096	5937	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61766937G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6791G>A	8.37:g.61766937G>A	ENSP00000392028:p.Arg2264Lys						p.R2264K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		32	7268	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2264					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6791G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981387	0.53827	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.80653	-1.4	5.56	4.58	0.56647	.	0.241821	0.35615	N	0.003099	T	0.57051	0.2027	N	0.14661	0.345	0.29961	N	0.819378	B	0.06786	0.001	B	0.11329	0.006	T	0.48958	-0.8988	10	0.07325	T	0.83	-17.4098	3.6309	0.08131	0.3492:0.0:0.6508:0.0	.	2264	Q9P2D1	CHD7_HUMAN	K	2264	ENSP00000392028:R2264K	ENSP00000307304:R2264K	R	+	2	0	CHD7	61929491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.073000	0.57570	2.609000	0.88269	0.655000	0.94253	AGA		0.413	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	30	0	0	0	0.004672	0	3	30				
VCPIP1	80124	broad.mit.edu	37	8	67578701	67578701	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:67578701C>A	ENST00000310421.4	-	1	751	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	165					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGGCGCGGTCACCCAGTAAG	0.552																																					NSCLC(179;265 2915 6144 43644)	NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NA																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(493-495)GAC>TAC		valosin containing protein (p97)/p47 complex							117.0	107.0	110.0					8																	67578701		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578701C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.493G>T	8.37:g.67578701C>A	ENSP00000309031:p.Asp165Tyr					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.D165Y	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	752	-		Lung NSC(129;0.142)|all_lung(136;0.227)	165					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.493G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932163	0.73442	.	.	ENSG00000175073	ENST00000310421	T	0.38560	1.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.64812	-0.6319	10	0.87932	D	0	-12.5561	20.422	0.99049	0.0:1.0:0.0:0.0	.	165	Q96JH7	VCIP1_HUMAN	Y	165	ENSP00000309031:D165Y	ENSP00000309031:D165Y	D	-	1	0	VCPIP1	67741255	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAC		0.552	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			21	74	1	0	1.9806e-07	0.002299	2.71096e-07	21	74				
PRDM14	63978	broad.mit.edu	37	8	70981464	70981464	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:70981464G>T	ENST00000276594.2	-	2	833	c.632C>A	c.(631-633)cCc>cAc	p.P211H		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCCAGGCTGGGAGTGACCCC	0.592																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(631-633)CCC>CAC		PR domain containing 14							78.0	81.0	80.0					8																	70981464		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981464G>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.632C>A	8.37:g.70981464G>T	ENSP00000276594:p.Pro211His						p.P211H	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	834	-	Breast(64;0.193)		211					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.632C>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030514	0.54790	.	.	ENSG00000147596	ENST00000276594	T	0.10960	2.82	4.98	0.989	0.19802	.	0.597706	0.18380	N	0.142986	T	0.09949	0.0244	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22695	-1.0209	10	0.66056	D	0.02	-6.5006	4.2928	0.10886	0.0889:0.4099:0.3566:0.1447	.	211	Q9GZV8	PRD14_HUMAN	H	211	ENSP00000276594:P211H	ENSP00000276594:P211H	P	-	2	0	PRDM14	71144018	0.396000	0.25262	0.334000	0.25495	0.356000	0.29392	0.627000	0.24506	0.680000	0.31366	0.655000	0.94253	CCC		0.592	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			50	39	1	0	1.22102e-19	0.00361	2.24403e-19	50	39				
PI15	51050	broad.mit.edu	37	8	75737725	75737725	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:75737725G>C	ENST00000260113.2	+	2	420	c.241G>C	c.(241-243)Gtg>Ctg	p.V81L	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.V81L|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	81	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TCGGGGCAAAGTGTTCCCACC	0.388																																							uc003yal.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(241-243)GTG>CTG		protease inhibitor 15 preproprotein							49.0	44.0	46.0					8																	75737725		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737725G>C	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.241G>C	8.37:g.75737725G>C	ENSP00000260113:p.Val81Leu					uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.V81L	p.V81L	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	420	+	Breast(64;0.137)		81					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.241G>C	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325006	0.81580	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.10960	2.82;2.82	5.25	5.25	0.73442	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08513	-1.0718	10	0.87932	D	0	.	19.4069	0.94651	0.0:0.0:1.0:0.0	.	81	O43692	PI15_HUMAN	L	81	ENSP00000260113:V81L;ENSP00000428567:V81L	ENSP00000260113:V81L	V	+	1	0	PI15	75900280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.166000	0.94766	2.894000	0.99253	0.591000	0.81541	GTG		0.388	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		6	27	0	0	0	0.001168	0	6	27				
ZFHX4	79776	broad.mit.edu	37	8	77617528	77617528	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:77617528C>T	ENST00000521891.2	+	2	1653	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P402L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P402L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P402L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCCAAATGCCAAAGGCTGAA	0.527										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1204-1206)CCA>CTA		zinc finger homeodomain 4							33.0	32.0	32.0					8																	77617528		1864	4113	5977	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617528C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1205C>T	8.37:g.77617528C>T	ENSP00000430497:p.Pro402Leu	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.P402L|ZFHX4_uc003yau.1_Missense_Mutation_p.P402L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P402L	p.P402L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1592	+			402					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1205C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862805	0.51482	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.71103	-0.5;-0.49;-0.53;-0.54	5.38	5.38	0.77491	.	0.000000	0.44285	U	0.000480	T	0.78997	0.4372	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.997;0.999;0.999;0.923	T	0.80585	-0.1317	10	0.87932	D	0	.	19.3331	0.94299	0.0:1.0:0.0:0.0	.	402;402;402;402	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	402	ENSP00000430497:P402L;ENSP00000399605:P402L;ENSP00000050961:P402L;ENSP00000430848:P402L	ENSP00000050961:P402L	P	+	2	0	ZFHX4	77780083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.309000	0.78937	2.802000	0.96397	0.655000	0.94253	CCA		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	12	0	0	0	0.008291	0	11	12				
PEX2	5828	broad.mit.edu	37	8	77895554	77895554	+	Silent	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:77895554T>G	ENST00000419564.2	-	4	1325	c.861A>C	c.(859-861)gtA>gtC	p.V287V	PEX2_ENST00000520103.1_Silent_p.V287V|PEX2_ENST00000357039.4_Silent_p.V287V|PEX2_ENST00000522527.1_Silent_p.V287V	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	287					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GCAGACTGTGTACTTCTGTGC	0.383																																							uc003yax.2		NA																	0				ovary(1)	1						c.(859-861)GTA>GTC		peroxin 2							89.0	92.0	91.0					8																	77895554		2203	4300	6503	SO:0001819	synonymous_variant	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895554T>G	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.861A>C	8.37:g.77895554T>G						PEX2_uc003yay.2_Silent_p.V287V|PEX2_uc003yaz.2_Silent_p.V287V	p.V287V	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	1319	-			287					Q567S6|Q9BW41	Silent	SNP	ENST00000419564.2	37	c.861A>C	CCDS6221.1																																																																																				0.383	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		21	96	0	0	0	0.00278	0	21	96				
PEX2	5828	broad.mit.edu	37	8	77895675	77895675	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:77895675C>A	ENST00000419564.2	-	4	1204	c.740G>T	c.(739-741)tGt>tTt	p.C247F	PEX2_ENST00000520103.1_Missense_Mutation_p.C247F|PEX2_ENST00000357039.4_Missense_Mutation_p.C247F|PEX2_ENST00000522527.1_Missense_Mutation_p.C247F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	247					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CCACTCTCCACATAGAGCGCA	0.428																																							uc003yax.2		NA																	0				ovary(1)	1						c.(739-741)TGT>TTT		peroxin 2							95.0	85.0	88.0					8																	77895675		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895675C>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.740G>T	8.37:g.77895675C>A	ENSP00000400984:p.Cys247Phe					PEX2_uc003yay.2_Missense_Mutation_p.C247F|PEX2_uc003yaz.2_Missense_Mutation_p.C247F	p.C247F	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	1198	-			247			RING-type.		Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.740G>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923904	0.52653	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77	5.24	4.37	0.52481	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97045	0.9760	10	0.87932	D	0	-19.2022	13.9036	0.63821	0.0:0.9271:0.0:0.0729	.	247	P28328	PEX2_HUMAN	F	247	ENSP00000349543:C247F;ENSP00000400984:C247F;ENSP00000428590:C247F;ENSP00000428638:C247F	ENSP00000349543:C247F	C	-	2	0	PEX2	78058230	1.000000	0.71417	0.990000	0.47175	0.508000	0.34012	7.320000	0.79064	1.456000	0.47831	0.557000	0.71058	TGT		0.428	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		7	45	1	0	0.00198382	0.001984	0.00217721	7	45				
PSKH2	85481	broad.mit.edu	37	8	87076652	87076652	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:87076652G>C	ENST00000276616.2	-	2	468	c.394C>G	c.(394-396)Caa>Gaa	p.Q132E	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> R (in dbSNP:rs16879427). {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATGTAAACTTGATCCTCAGTC	0.542																																							uc011lfy.1		NA																	0				stomach(2)|lung(2)|ovary(1)	5						c.(394-396)CAA>GAA		protein serine kinase H2							87.0	82.0	84.0					8																	87076652		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076652G>C	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.394C>G	8.37:g.87076652G>C	ENSP00000276616:p.Gln132Glu						p.Q132E	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	394	-			132			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.394C>G	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	G	9.676	1.148103	0.21288	.	.	ENSG00000147613	ENST00000276616	T	0.63744	-0.06	5.22	2.29	0.28610	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.38852	0.1056	N	0.17278	0.47	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.22103	-1.0226	9	0.14252	T	0.57	.	5.1035	0.14772	0.1957:0.0:0.6417:0.1625	.	132	Q96QS6	KPSH2_HUMAN	E	132	ENSP00000276616:Q132E	ENSP00000276616:Q132E	Q	-	1	0	PSKH2	87145768	0.984000	0.35163	0.001000	0.08648	0.204000	0.24138	2.991000	0.49409	0.137000	0.18759	0.655000	0.94253	CAA		0.542	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		16	38	0	0	0	0.004007	0	16	38				
DCAF4L2	138009	broad.mit.edu	37	8	88885086	88885086	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:88885086G>T	ENST00000319675.3	-	1	1210	c.1114C>A	c.(1114-1116)Ctc>Atc	p.L372I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	372										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGCCCCCGAGGCGAGAAGAG	0.592																																							uc003ydz.2		NA																	0				ovary(1)	1						c.(1114-1116)CTC>ATC		WD repeat domain 21C							60.0	66.0	64.0					8																	88885086		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885086G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1114C>A	8.37:g.88885086G>T	ENSP00000316496:p.Leu372Ile						p.L372I	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1211	-			372						Missense_Mutation	SNP	ENST00000319675.3	37	c.1114C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434158	0.43224	.	.	ENSG00000176566	ENST00000319675	T	0.38722	1.12	1.37	1.37	0.22104	.	0.067189	0.64402	D	0.000012	T	0.35711	0.0941	L	0.46157	1.445	0.31427	N	0.673578	B	0.31859	0.343	B	0.38803	0.282	T	0.38415	-0.9662	10	0.33141	T	0.24	.	8.2535	0.31741	0.0:0.0:1.0:0.0	.	372	Q8NA75	DC4L2_HUMAN	I	372	ENSP00000316496:L372I	ENSP00000316496:L372I	L	-	1	0	DCAF4L2	88954202	1.000000	0.71417	0.046000	0.18839	0.125000	0.20455	4.321000	0.59209	0.735000	0.32537	0.467000	0.42956	CTC		0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		9	39	1	0	2.17888e-05	0.006214	2.68607e-05	9	39				
MMP16	4325	broad.mit.edu	37	8	89068387	89068387	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:89068387C>A	ENST00000286614.6	-	8	1623	c.1342G>T	c.(1342-1344)Gtc>Ttc	p.V448F		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	448					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V448I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GTTTTCCCGACGTCCTCCCAC	0.413																																							uc003yeb.3		NA																	1	Substitution - Missense(1)		endometrium(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1342-1344)GTC>TTC		matrix metalloproteinase 16 isoform 1							118.0	110.0	113.0					8																	89068387		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89068387C>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1342G>T	8.37:g.89068387C>A	ENSP00000286614:p.Val448Phe						p.V448F	NM_005941	NP_005932	P51512	MMP16_HUMAN			8	1624	-			448			Extracellular (Potential).|Hemopexin-like 3.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1342G>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895345	0.72639	.	.	ENSG00000156103	ENST00000286614	T	0.07800	3.16	5.91	5.91	0.95273	Hemopexin/matrixin (2);	0.053759	0.64402	D	0.000001	T	0.12305	0.0299	L	0.39514	1.22	0.80722	D	1	B	0.18013	0.025	B	0.28139	0.086	T	0.08186	-1.0734	10	0.48119	T	0.1	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	448	P51512	MMP16_HUMAN	F	448	ENSP00000286614:V448F	ENSP00000286614:V448F	V	-	1	0	MMP16	89137503	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.066000	0.71185	2.793000	0.96121	0.655000	0.94253	GTC		0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		10	32	1	0	2.17888e-05	0.006214	2.68607e-05	10	32				
MMP16	4325	broad.mit.edu	37	8	89086929	89086929	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:89086929C>G	ENST00000286614.6	-	7	1407	c.1126G>C	c.(1126-1128)Gga>Cga	p.G376R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	376					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATTGGGTATCCATCCATCACC	0.463																																							uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1126-1128)GGA>CGA		matrix metalloproteinase 16 isoform 1							165.0	157.0	160.0					8																	89086929		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89086929C>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1126G>C	8.37:g.89086929C>G	ENSP00000286614:p.Gly376Arg					MMP16_uc003yec.2_Missense_Mutation_p.G376R	p.G376R	NM_005941	NP_005932	P51512	MMP16_HUMAN			7	1408	-			376			Extracellular (Potential).|Hemopexin-like 1.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1126G>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009905	0.93346	.	.	ENSG00000156103	ENST00000286614	T	0.03889	3.77	4.88	4.88	0.63580	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.81914	0.995;0.983	T	0.15178	-1.0446	10	0.45353	T	0.12	.	18.4198	0.90586	0.0:1.0:0.0:0.0	.	376;376	P51512-2;P51512	.;MMP16_HUMAN	R	376	ENSP00000286614:G376R	ENSP00000286614:G376R	G	-	1	0	MMP16	89156045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.397000	0.81536	0.650000	0.86243	GGA		0.463	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		13	63	0	0	0	0.001368	0	13	63				
SLC26A7	115111	broad.mit.edu	37	8	92375762	92375762	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:92375762A>T	ENST00000276609.3	+	13	1723	c.1484A>T	c.(1483-1485)gAc>gTc	p.D495V	SLC26A7_ENST00000309536.2_Missense_Mutation_p.D495V|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.D495V	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACAGAAATGGACAGTGTAAGT	0.249																																							uc003yex.2		NA																	0				ovary(2)	2						c.(1483-1485)GAC>GTC		solute carrier family 26, member 7 isoform a							70.0	78.0	75.0					8																	92375762		2194	4290	6484	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92375762A>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1484A>T	8.37:g.92375762A>T	ENSP00000276609:p.Asp495Val					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.D495V|SLC26A7_uc003yfa.2_Missense_Mutation_p.D495V	p.D495V	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		14	1762	+			495			STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.1484A>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816353	0.32145	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.89050	-2.46;-2.46;-2.46	5.68	5.68	0.88126	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.562904	0.17720	N	0.164271	D	0.85965	0.5820	L	0.51422	1.61	0.18873	N	0.999988	B;B	0.30973	0.302;0.175	B;B	0.28465	0.086;0.09	T	0.78976	-0.1991	10	0.46703	T	0.11	.	14.1457	0.65349	1.0:0.0:0.0:0.0	.	495;495	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	V	495	ENSP00000428849:D495V;ENSP00000276609:D495V;ENSP00000309504:D495V	ENSP00000276609:D495V	D	+	2	0	SLC26A7	92444938	0.541000	0.26417	0.021000	0.16686	0.769000	0.43574	5.291000	0.65667	2.163000	0.67991	0.482000	0.46254	GAC		0.249	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			7	22	0	0	0	0.00308	0	7	22				
RBM12B	389677	broad.mit.edu	37	8	94746596	94746596	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:94746596C>A	ENST00000399300.2	-	3	2256	c.2043G>T	c.(2041-2043)gaG>gaT	p.E681D	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	681							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCCTAAAGTCCTCCTCTGGGG	0.617																																							uc003yfz.2		NA																	0					0						c.(2041-2043)GAG>GAT		RNA binding motif protein 12B							85.0	89.0	88.0					8																	94746596		1831	4072	5903	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746596C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2043G>T	8.37:g.94746596C>A	ENSP00000382239:p.Glu681Asp						p.E681D	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2236	-	Breast(36;4.14e-07)		681					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2043G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	8.974	0.973709	0.18736	.	.	ENSG00000183808	ENST00000399300	T	0.08008	3.14	4.02	-6.58	0.01836	.	0.415630	0.22740	N	0.056206	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	10	0.21014	T	0.42	.	5.2983	0.15764	0.3523:0.1638:0.0:0.4839	.	681	Q8IXT5	RB12B_HUMAN	D	681	ENSP00000382239:E681D	ENSP00000382239:E681D	E	-	3	2	RBM12B	94815772	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-8.666000	0.00018	-1.620000	0.01564	-0.145000	0.13849	GAG		0.617	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		42	75	1	0	6.68952e-21	0.013114	1.2415e-20	42	75				
DPY19L4	286148	broad.mit.edu	37	8	95792642	95792642	+	Splice_Site	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:95792642A>T	ENST00000414645.2	+	15	1730	c.1631A>T	c.(1630-1632)gAg>gTg	p.E544V		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	544						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTATGGAAAGAGGtaaaaaaa	0.299																																							uc003ygx.2		NA																	0				ovary(2)	2						c.(1630-1632)GAG>GTG		dpy-19-like 4							41.0	41.0	41.0					8																	95792642		2198	4292	6490	SO:0001630	splice_region_variant	286148					integral to membrane		g.chr8:95792642A>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1632+1A>T	8.37:g.95792642A>T							p.E544V	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			15	1755	+	Breast(36;3.85e-06)		544					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.1631A>T	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725528	0.68959	.	.	ENSG00000156162	ENST00000414645	T	0.56275	0.47	5.25	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	L	0.54323	1.7	0.80722	D	1	P	0.40000	0.698	B	0.43413	0.419	T	0.47787	-0.9090	10	0.44086	T	0.13	-3.8751	9.9706	0.41752	0.9223:0.0:0.0777:0.0	.	544	Q7Z388	D19L4_HUMAN	V	544	ENSP00000389630:E544V	ENSP00000389630:E544V	E	+	2	0	DPY19L4	95861818	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.272000	0.78516	0.930000	0.37217	0.528000	0.53228	GAG		0.299	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787	Missense_Mutation	5	15	0	0	0	0.000602	0	5	15				
PTDSS1	9791	broad.mit.edu	37	8	97307406	97307406	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:97307406G>T	ENST00000517309.1	+	5	848	c.522G>T	c.(520-522)tgG>tgT	p.W174C	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.W28C|PTDSS1_ENST00000522072.1_5'Flank	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	174					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GACATTTCTGGGGCTGGGCCA	0.468																																							uc003yht.1		NA																	0				ovary(1)	1						c.(520-522)TGG>TGT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						118.0	111.0	113.0					8																	97307406		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97307406G>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.522G>T	8.37:g.97307406G>T	ENSP00000430548:p.Trp174Cys					PTDSS1_uc003yhu.1_Missense_Mutation_p.W28C	p.W174C	NM_014754	NP_055569	P48651	PTSS1_HUMAN			5	624	+	Breast(36;6.18e-05)		174			Helical; (Potential).		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.522G>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894691	0.33442	.	.	ENSG00000156471	ENST00000517309;ENST00000455950	T;T	0.42900	0.96;0.96	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	N	0.20685	0.6	0.80722	D	1	B	0.12630	0.006	B	0.17979	0.02	T	0.10019	-1.0648	10	0.49607	T	0.09	-8.6155	16.2007	0.82071	0.0:0.0:1.0:0.0	.	174	P48651	PTSS1_HUMAN	C	174;28	ENSP00000430548:W174C;ENSP00000401248:W28C	ENSP00000401248:W28C	W	+	3	0	PTDSS1	97376582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.788000	0.55446	2.323000	0.78572	0.555000	0.69702	TGG		0.468	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			5	38	1	0	0.000602214	0.000602	0.000676645	5	38				
SDC2	6383	broad.mit.edu	37	8	97605770	97605770	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:97605770A>T	ENST00000302190.4	+	2	1044	c.123A>T	c.(121-123)tcA>tcT	p.S41S	SDC2_ENST00000519914.1_Silent_p.S12S|SDC2_ENST00000518385.1_Intron|SDC2_ENST00000522911.1_Silent_p.S12S	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	41					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	AAGAAGCTTCAGGAGTGTATC	0.488																																							uc003yhv.1		NA																	0				ovary(2)	2						c.(121-123)TCA>TCT		syndecan 2 precursor	Sargramostim(DB00020)						150.0	117.0	128.0					8																	97605770		2203	4300	6503	SO:0001819	synonymous_variant	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97605770A>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.123A>T	8.37:g.97605770A>T						SDC2_uc011lgu.1_Silent_p.S12S	p.S41S	NM_002998	NP_002989	P34741	SDC2_HUMAN			2	741	+	Breast(36;3.41e-05)		41			Extracellular (Potential).		B3KQA3|Q6PIS6|Q9H6V1	Silent	SNP	ENST00000302190.4	37	c.123A>T	CCDS6272.1																																																																																				0.488	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		8	28	0	0	0	0.00308	0	8	28				
RIMS2	9699	broad.mit.edu	37	8	104898412	104898412	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:104898412G>A	ENST00000436393.2	+	2	1160	c.919G>A	c.(919-921)Gat>Aat	p.D307N	RIMS2_ENST00000406091.3_Missense_Mutation_p.D529N|RIMS2_ENST00000507740.1_Missense_Mutation_p.D337N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D337N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	560					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAAGTTGTGATGATGTTGA	0.363										HNSCC(12;0.0054)																													uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(919-921)GAT>AAT		regulating synaptic membrane exocytosis 2							57.0	52.0	53.0					8																	104898412		1923	4121	6044	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898412G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.919G>A	8.37:g.104898412G>A	ENSP00000390665:p.Asp307Asn	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.D529N|RIMS2_uc003ylw.2_Missense_Mutation_p.D337N|RIMS2_uc003ylq.2_Missense_Mutation_p.D337N|RIMS2_uc003ylr.2_Missense_Mutation_p.D337N	p.D307N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1160	+			560					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.919G>A		.	.	.	.	.	.	.	.	.	.	G	25.2	4.614355	0.87359	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.20069	2.1;2.57;2.19;2.28;2.25;2.15;2.55	5.69	4.8	0.61643	.	.	.	.	.	T	0.32346	0.0826	L	0.34521	1.04	0.42968	D	0.994424	P;P;P;D;D	0.61697	0.945;0.773;0.855;0.99;0.984	P;B;P;P;P	0.59288	0.573;0.445;0.709;0.855;0.763	T	0.10613	-1.0622	9	0.72032	D	0.01	.	16.0044	0.80349	0.0:0.0:0.8643:0.1357	.	560;307;337;337;529	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	N	529;560;529;560;337;337;337;337;307	ENSP00000427018:D529N;ENSP00000384892:D529N;ENSP00000425205:D337N;ENSP00000262231:D337N;ENSP00000423559:D337N;ENSP00000386228:D337N;ENSP00000390665:D307N	ENSP00000262231:D337N	D	+	1	0	RIMS2	104967588	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.820000	0.99359	1.375000	0.46248	0.563000	0.77884	GAT		0.363	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		5	15	0	0	0	0.004482	0	5	15				
RIMS2	9699	broad.mit.edu	37	8	105161047	105161047	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:105161047G>T	ENST00000436393.2	+	23	3600	c.3359G>T	c.(3358-3360)aGt>aTt	p.S1120I	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACGGAAAAGTCGCAGTGCT	0.453										HNSCC(12;0.0054)																													uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3358-3360)AGT>ATT		regulating synaptic membrane exocytosis 2							133.0	125.0	127.0					8																	105161047		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105161047G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3359G>T	8.37:g.105161047G>T	ENSP00000390665:p.Ser1120Ile	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1109I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.S1120I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3600	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3359G>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.654184	0.88056	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.35605	1.3;1.73	5.69	5.69	0.88448	.	.	.	.	.	T	0.63780	0.2540	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	T	0.66532	-0.5900	8	0.87932	D	0	.	19.8262	0.96618	0.0:0.0:1.0:0.0	.	1120	D6RA03	.	I	1109;1120	ENSP00000386228:S1109I;ENSP00000390665:S1120I	ENSP00000386228:S1109I	S	+	2	0	RIMS2	105230223	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.792000	0.99085	2.676000	0.91093	0.655000	0.94253	AGT		0.453	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		31	40	1	0	9.93527e-08	0.002836	1.38556e-07	31	40				
DCSTAMP	81501	broad.mit.edu	37	8	105361495	105361495	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:105361495G>T	ENST00000297581.2	+	2	764	c.715G>T	c.(715-717)Ggt>Tgt	p.G239C	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G239C|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	239					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GGGCCCTTGTGGTTGGAAGTA	0.502																																							uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(715-717)GGT>TGT		dendritic cell-specific transmembrane protein							101.0	95.0	97.0					8																	105361495		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361495G>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.715G>T	8.37:g.105361495G>T	ENSP00000297581:p.Gly239Cys						p.G239C	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	764	+			239					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.715G>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492087	0.64074	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.30981	1.51	5.52	4.54	0.55810	.	0.244995	0.47455	D	0.000222	T	0.38692	0.1050	L	0.57536	1.79	0.09310	N	0.999995	D	0.71674	0.998	P	0.57324	0.818	T	0.37126	-0.9719	9	.	.	.	-11.4723	4.1733	0.10339	0.2497:0.0:0.7503:0.0	.	239	Q9H295	TM7S4_HUMAN	C	239	ENSP00000297581:G239C	.	G	+	1	0	TM7SF4	105430671	0.893000	0.30496	0.132000	0.22025	0.969000	0.65631	2.523000	0.45580	2.624000	0.88883	0.555000	0.69702	GGT		0.502	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		32	29	1	0	6.04164e-23	0.010818	1.13867e-22	32	29				
ZFPM2	23414	broad.mit.edu	37	8	106813771	106813771	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:106813771T>A	ENST00000407775.2	+	8	1711	c.1461T>A	c.(1459-1461)aaT>aaA	p.N487K	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N218K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N355K|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N355K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	487					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCAGCCTAATATTGGGCCTT	0.438																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1459-1461)AAT>AAA		zinc finger protein, multitype 2							113.0	115.0	114.0					8																	106813771		1875	4104	5979	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813771T>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1461T>A	8.37:g.106813771T>A	ENSP00000384179:p.Asn487Lys					ZFPM2_uc011lhs.1_Missense_Mutation_p.N218K	p.N487K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1484	+			487					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1461T>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247050	0.22796	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19250	2.16;2.65;2.65;3.85	5.97	-4.91	0.03085	.	0.286511	0.43416	D	0.000571	T	0.08268	0.0206	N	0.19112	0.55	0.18873	N	0.999986	B	0.28713	0.22	B	0.21708	0.036	T	0.40059	-0.9583	10	0.06236	T	0.91	.	11.7741	0.51975	0.0981:0.5897:0.0:0.3122	.	487	Q8WW38	FOG2_HUMAN	K	487;355;355;218	ENSP00000384179:N487K;ENSP00000430757:N355K;ENSP00000428720:N355K;ENSP00000367733:N218K	ENSP00000367733:N218K	N	+	3	2	ZFPM2	106882947	0.862000	0.29867	0.001000	0.08648	0.909000	0.53808	0.385000	0.20685	-0.762000	0.04664	-0.899000	0.02877	AAT		0.438	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			49	50	0	0	0	0.013114	0	49	50				
ZFPM2	23414	broad.mit.edu	37	8	106813782	106813782	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:106813782C>A	ENST00000407775.2	+	8	1722	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S222Y|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S359Y|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S359Y	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	491					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATTGGGCCTTCTTTCCCTGTG	0.443																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1471-1473)TCT>TAT		zinc finger protein, multitype 2							117.0	119.0	119.0					8																	106813782		1883	4106	5989	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813782C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1472C>A	8.37:g.106813782C>A	ENSP00000384179:p.Ser491Tyr					ZFPM2_uc011lhs.1_Missense_Mutation_p.S222Y	p.S491Y	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1495	+			491					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1472C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770070	0.69992	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20598	2.06;2.54;2.54;3.75	5.97	5.97	0.96955	.	0.049834	0.85682	D	0.000000	T	0.32585	0.0834	L	0.40543	1.245	0.80722	D	1	D	0.62365	0.991	P	0.51999	0.687	T	0.00912	-1.1517	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	491	Q8WW38	FOG2_HUMAN	Y	491;359;359;222	ENSP00000384179:S491Y;ENSP00000430757:S359Y;ENSP00000428720:S359Y;ENSP00000367733:S222Y	ENSP00000367733:S222Y	S	+	2	0	ZFPM2	106882958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.980000	0.70516	2.836000	0.97738	0.655000	0.94253	TCT		0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			17	90	1	0	3.32936e-07	0.006122	4.48132e-07	17	90				
PKHD1L1	93035	broad.mit.edu	37	8	110457187	110457187	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:110457187C>T	ENST00000378402.5	+	38	5193	c.5089C>T	c.(5089-5091)Cat>Tat	p.H1697Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1697	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTATGGGTCATTTCCCATG	0.438										HNSCC(38;0.096)																													uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5089-5091)CAT>TAT		fibrocystin L precursor							158.0	152.0	154.0					8																	110457187		1874	4116	5990	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457187C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5089C>T	8.37:g.110457187C>T	ENSP00000367655:p.His1697Tyr	HNSCC(38;0.096)					p.H1697Y	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5193	+			1697			IPT/TIG 9.|Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5089C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522176	0.13066	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	6.17	2.19	0.27852	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.016690	0.07833	N	0.961732	T	0.70596	0.3242	L	0.43152	1.355	0.09310	N	1	B	0.22604	0.072	B	0.23574	0.047	T	0.53968	-0.8363	10	0.23302	T	0.38	.	10.7286	0.46083	0.0:0.3253:0.5914:0.0833	.	1697	Q86WI1	PKHL1_HUMAN	Y	1697	ENSP00000367655:H1697Y	ENSP00000367655:H1697Y	H	+	1	0	PKHD1L1	110526363	0.528000	0.26314	0.031000	0.17742	0.352000	0.29268	0.651000	0.24873	0.449000	0.26747	-0.175000	0.13238	CAT		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		53	77	0	0	0	0.00361	0	53	77				
CSMD3	114788	broad.mit.edu	37	8	113293519	113293519	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:113293519G>T	ENST00000297405.5	-	59	9636	c.9392C>A	c.(9391-9393)aCa>aAa	p.T3131K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3091K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2962K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3061K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3131	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAAATGTTGTGCCATCAAT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9391-9393)ACA>AAA		CUB and Sushi multiple domains 3 isoform 1							123.0	107.0	112.0					8																	113293519		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293519G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9392C>A	8.37:g.113293519G>T	ENSP00000297405:p.Thr3131Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T2333K|CSMD3_uc003ynt.2_Missense_Mutation_p.T3091K|CSMD3_uc011lhx.1_Missense_Mutation_p.T2962K	p.T3131K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9551	-			3131			Extracellular (Potential).|Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9392C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044083	0.55110	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.72	3.94	0.45596	Complement control module (2);Sushi/SCR/CCP (3);	0.066173	0.64402	D	0.000014	T	0.74351	0.3705	M	0.66560	2.04	0.44780	D	0.997789	D;D;B	0.69078	0.997;0.996;0.356	D;D;B	0.78314	0.99;0.991;0.239	T	0.71237	-0.4652	10	0.29301	T	0.29	.	12.4565	0.55708	0.136:0.0:0.864:0.0	.	2962;3131;3091	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3091;3131;2401;2962;3061	ENSP00000345799:T3091K;ENSP00000297405:T3131K;ENSP00000341558:T2401K;ENSP00000412263:T2962K;ENSP00000343124:T3061K	ENSP00000297405:T3131K	T	-	2	0	CSMD3	113362695	1.000000	0.71417	0.990000	0.47175	0.293000	0.27360	4.304000	0.59104	0.775000	0.33450	-0.145000	0.13849	ACA		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	14	1	0	0.00010058	0.001368	0.000118575	12	14				
CSMD3	114788	broad.mit.edu	37	8	113293559	113293559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:113293559C>A	ENST00000297405.5	-	59	9596	c.9352G>T	c.(9352-9354)Gga>Tga	p.G3118*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3078*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G2949*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3048*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3118	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGTGGTTCCTGGGTTACCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9352-9354)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1							91.0	77.0	81.0					8																	113293559		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113293559C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9352G>T	8.37:g.113293559C>A	ENSP00000297405:p.Gly3118*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G2320*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3078*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G2949*	p.G3118*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9511	-			3118			Extracellular (Potential).|Sushi 23.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.9352G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	51	18.599147	0.99907	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.72	5.72	0.89469	.	0.071377	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	.	.	.	X	3078;3118;2388;2949;3048	.	ENSP00000297405:G3118X	G	-	1	0	CSMD3	113362735	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.773000	0.85462	2.695000	0.91970	0.650000	0.86243	GGA		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	9	1	0	0.000157383	0.00308	0.000182879	6	9				
CSMD3	114788	broad.mit.edu	37	8	113504867	113504867	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:113504867C>A	ENST00000297405.5	-	31	5373	c.5129G>T	c.(5128-5130)gGc>gTc	p.G1710V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1670V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1606V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1710V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1710	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTCTGGTGCCATTCATTAT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5128-5130)GGC>GTC		CUB and Sushi multiple domains 3 isoform 1							160.0	145.0	150.0					8																	113504867		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113504867C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5129G>T	8.37:g.113504867C>A	ENSP00000297405:p.Gly1710Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G982V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1670V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1606V	p.G1710V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			31	5288	-			1710			Extracellular (Potential).|Sushi 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5129G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600173	0.87055	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	4.9	4.9	0.64082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.88923	0.6569	H	0.97874	4.095	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.78314	0.984;0.991;0.984	D	0.92782	0.6241	10	0.72032	D	0.01	.	18.6241	0.91331	0.0:1.0:0.0:0.0	.	1606;1710;1670	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1670;1710;1050;1606;1710	ENSP00000345799:G1670V;ENSP00000297405:G1710V;ENSP00000341558:G1050V;ENSP00000412263:G1606V;ENSP00000343124:G1710V	ENSP00000297405:G1710V	G	-	2	0	CSMD3	113574043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.493000	0.81493	2.704000	0.92352	0.585000	0.79938	GGC		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	51	1	0	2.32078e-09	0.003163	3.44872e-09	14	51				
CSMD3	114788	broad.mit.edu	37	8	113569024	113569024	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:113569024C>A	ENST00000297405.5	-	25	4446	c.4202G>T	c.(4201-4203)aGg>aTg	p.R1401M	CSMD3_ENST00000343508.3_Missense_Mutation_p.R1361M|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1297M|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1401M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1401	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCCATGCCCTTCTCTCCCC	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4201-4203)AGG>ATG		CUB and Sushi multiple domains 3 isoform 1							109.0	98.0	102.0					8																	113569024		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113569024C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4202G>T	8.37:g.113569024C>A	ENSP00000297405:p.Arg1401Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R673M|CSMD3_uc003ynt.2_Missense_Mutation_p.R1361M|CSMD3_uc011lhx.1_Missense_Mutation_p.R1297M	p.R1401M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			25	4361	-			1401			Extracellular (Potential).|Sushi 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4202G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624945	0.87560	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.11	5.11	0.69529	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	M	0.80746	2.51	0.42668	D	0.993502	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.73708	0.967;0.981;0.976	T	0.78309	-0.2254	10	0.32370	T	0.25	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	1297;1401;1361	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	1361;1401;741;1297;1401	ENSP00000345799:R1361M;ENSP00000297405:R1401M;ENSP00000341558:R741M;ENSP00000412263:R1297M;ENSP00000343124:R1401M	ENSP00000297405:R1401M	R	-	2	0	CSMD3	113638200	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.651000	0.83577	2.660000	0.90430	0.655000	0.94253	AGG		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	27	1	0	2.89027e-11	0.002299	4.53689e-11	19	27				
TRPS1	7227	broad.mit.edu	37	8	116599565	116599565	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:116599565C>T	ENST00000220888.5	-	4	2483	c.2324G>A	c.(2323-2325)gGg>gAg	p.G775E	TRPS1_ENST00000395715.3_Missense_Mutation_p.G788E|TRPS1_ENST00000519076.1_Missense_Mutation_p.G529E|TRPS1_ENST00000520276.1_Missense_Mutation_p.G779E|TRPS1_ENST00000519674.1_Missense_Mutation_p.G775E			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	775	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTCTTTGAGCCCGTCCTTCTC	0.507									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2323-2325)GGG>GAG		zinc finger transcription factor TRPS1							292.0	300.0	297.0					8																	116599565		1951	4141	6092	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599565C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2324G>A	8.37:g.116599565C>T	ENSP00000220888:p.Gly775Glu					TRPS1_uc011lhy.1_Missense_Mutation_p.G779E|TRPS1_uc003yny.2_Missense_Mutation_p.G788E|TRPS1_uc010mcy.2_Missense_Mutation_p.G775E	p.G775E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2783	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		775			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2324G>A		.	.	.	.	.	.	.	.	.	.	C	12.10	1.836886	0.32421	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98329	-4.87;-4.84;-4.84;-4.84;0.94	5.76	5.76	0.90799	.	0.351400	0.30419	N	0.009675	D	0.94358	0.8186	N	0.24115	0.695	0.31464	N	0.669212	P;B;P	0.35272	0.493;0.361;0.493	B;B;B	0.29942	0.109;0.051;0.109	D	0.94140	0.7396	10	0.72032	D	0.01	.	10.0368	0.42133	0.1456:0.6175:0.2369:0.0	.	779;775;788	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	E	788;775;529;779;775	ENSP00000379065:G788E;ENSP00000220888:G775E;ENSP00000428910:G529E;ENSP00000428680:G779E;ENSP00000429174:G775E	ENSP00000220888:G775E	G	-	2	0	TRPS1	116668740	0.986000	0.35501	0.957000	0.39632	0.611000	0.37282	0.881000	0.28173	2.726000	0.93360	0.655000	0.94253	GGG		0.507	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		128	154	0	0	0	0.00361	0	128	154				
DEPTOR	64798	broad.mit.edu	37	8	121021350	121021350	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:121021350C>T	ENST00000286234.5	+	8	1209	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	DEPTOR_ENST00000523492.1_Missense_Mutation_p.P259L|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	360	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CCCAGTGGCCCTGCAGCCGCA	0.507																																							uc003yow.3		NA																	0					0						c.(1078-1080)CCT>CTT		DEP domain containing 6							109.0	79.0	89.0					8																	121021350		2203	4300	6503	SO:0001583	missense	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:121021350C>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.1079C>T	8.37:g.121021350C>T	ENSP00000286234:p.Pro360Leu					DEPDC6_uc011lid.1_Missense_Mutation_p.P259L	p.P360L	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	1266	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		360			PDZ.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	c.1079C>T	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034314	0.75617	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.35973	1.28;1.28	5.83	5.83	0.93111	PDZ/DHR/GLGF (3);	0.051756	0.85682	D	0.000000	T	0.58552	0.2130	M	0.91300	3.195	0.80722	D	1	D;P	0.53885	0.963;0.822	P;B	0.47118	0.538;0.142	T	0.69518	-0.5124	10	0.66056	D	0.02	-23.1738	20.1338	0.98010	0.0:1.0:0.0:0.0	.	259;360	E7EV87;Q8TB45	.;DPTOR_HUMAN	L	259;360	ENSP00000430457:P259L;ENSP00000286234:P360L	ENSP00000286234:P360L	P	+	2	0	DEPTOR	121090531	1.000000	0.71417	0.964000	0.40570	0.255000	0.26057	7.721000	0.84768	2.770000	0.95276	0.655000	0.94253	CCT		0.507	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		27	32	0	0	0	0.003954	0	27	32				
COL14A1	7373	broad.mit.edu	37	8	121239003	121239003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:121239003G>T	ENST00000297848.3	+	16	2272	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.E668*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.E573*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAAGACTGAGGAGGTGAGTTT	0.448																																							uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2002-2004)GAG>TAG		collagen, type XIV, alpha 1 precursor							65.0	60.0	61.0					8																	121239003		2203	4300	6503	SO:0001587	stop_gained	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121239003G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2002G>T	8.37:g.121239003G>T	ENSP00000297848:p.Glu668*					COL14A1_uc003yoy.2_Nonsense_Mutation_p.E346*	p.E668*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		16	2267	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		668			Fibronectin type-III 5.			Nonsense_Mutation	SNP	ENST00000297848.3	37	c.2002G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167332	0.94768	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.	.	.	5.9	4.99	0.66335	.	0.164295	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.0441	0.80707	0.0:0.1341:0.8659:0.0	.	.	.	.	X	668;668;573;481	.	ENSP00000247781:E573X	E	+	1	0	COL14A1	121308184	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.735000	0.68587	2.808000	0.96608	0.650000	0.86243	GAG		0.448	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		6	28	1	0	0.00116845	0.001168	0.00129404	6	28				
CYP11B2	1585	broad.mit.edu	37	8	143999226	143999226	+	Missense_Mutation	SNP	C	C	T	rs574581657		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:143999226C>T	ENST00000323110.2	-	1	33	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	11					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCGCTGCCACGCACACCTCT	0.612									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0	0.0	5008	,	,		19374	0.001		0.0	False		,,,				2504	0.0						uc003yxk.1		NA																	0					0						c.(31-33)GTG>ATG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						103.0	104.0	104.0					8																	143999226		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999226C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.31G>A	8.37:g.143999226C>T	ENSP00000325822:p.Val11Met						p.V11M	NM_000498	NP_000489	P19099	C11B2_HUMAN			1	34	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		11					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.31G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	3.307	-0.141650	0.06669	.	.	ENSG00000179142	ENST00000323110	T	0.75589	-0.95	2.94	-5.88	0.02290	.	.	.	.	.	T	0.35595	0.0937	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	9	0.26408	T	0.33	.	3.4951	0.07651	0.137:0.1127:0.5396:0.2107	.	11	P19099	C11B2_HUMAN	M	11	ENSP00000325822:V11M	ENSP00000325822:V11M	V	-	1	0	CYP11B2	143996228	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.974000	0.03794	-1.354000	0.02188	-1.246000	0.01523	GTG		0.612	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			50	59	0	0	0	0.00361	0	50	59				
EEF1D	1936	broad.mit.edu	37	8	144662227	144662227	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:144662227C>A	ENST00000529272.1	-	7	1162	c.762G>T	c.(760-762)gtG>gtT	p.V254V	EEF1D_ENST00000528610.1_Silent_p.V230V|EEF1D_ENST00000532741.1_Silent_p.V670V|EEF1D_ENST00000419152.2_Silent_p.V254V|EEF1D_ENST00000532400.1_Missense_Mutation_p.W70L|EEF1D_ENST00000526838.1_Silent_p.V235V|EEF1D_ENST00000524624.1_Silent_p.V230V|RP11-661A12.9_ENST00000531730.1_RNA|EEF1D_ENST00000423316.2_Silent_p.V620V|NAPRT1_ENST00000449291.2_5'Flank|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000531621.1_Silent_p.V211V|EEF1D_ENST00000395119.3_Silent_p.V254V|EEF1D_ENST00000317198.6_Silent_p.V254V|NAPRT1_ENST00000426292.3_5'Flank|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000442189.2_Silent_p.V620V|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	254	Catalytic (GEF).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGTCTGTCCCCACCTTGTCGT	0.632																																							uc011lki.1		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(760-762)GTG>GTT		eukaryotic translation elongation factor 1 delta							58.0	58.0	58.0					8																	144662227		2203	4300	6503	SO:0001819	synonymous_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144662227C>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.762G>T	8.37:g.144662227C>A						NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.V596V|EEF1D_uc003yyq.1_Silent_p.V670V|EEF1D_uc011lkj.1_Silent_p.V619V|EEF1D_uc003yyr.2_Silent_p.V620V|EEF1D_uc003yyt.2_Silent_p.V620V|EEF1D_uc011lkk.1_Silent_p.V254V|EEF1D_uc003yys.2_Silent_p.V254V|EEF1D_uc003yyv.2_Silent_p.V230V|EEF1D_uc003yyu.2_Silent_p.V254V|EEF1D_uc011lkl.1_Silent_p.V235V	p.V254V	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		7	1031	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		254					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.762G>T	CCDS6405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.54|11.54	1.670530|1.670530	0.29693|0.29693	.|.	.|.	ENSG00000104529|ENSG00000104529	ENST00000530109;ENST00000337369|ENST00000532400	.|.	.|.	.|.	4.94|4.94	3.07|3.07	0.35406|0.35406	.|.	.|.	.|.	.|.	.|.	T|T	0.66297|0.66297	0.2775|0.2775	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66945|0.66945	-0.5795|-0.5795	5|5	0.87932|0.87932	D|D	0|0	.|.	9.9124|9.9124	0.41415|0.41415	0.1351:0.4451:0.4199:0.0|0.1351:0.4451:0.4199:0.0	.|.	.|.	.|.	.|.	W|L	129;620|70	.|.	ENSP00000338323:G620W|ENSP00000433784:W70L	G|W	-|-	1|2	0|0	EEF1D|EEF1D	144733370|144733370	0.972000|0.972000	0.33761|0.33761	0.998000|0.998000	0.56505|0.56505	0.820000|0.820000	0.46376|0.46376	0.198000|0.198000	0.17217|0.17217	0.564000|0.564000	0.29238|0.29238	-0.182000|-0.182000	0.12963|0.12963	GGG|TGG		0.632	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		17	24	1	0	1.5739e-10	0.004007	2.42797e-10	17	24				
CPSF1	29894	broad.mit.edu	37	8	145622131	145622131	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:145622131T>C	ENST00000349769.3	-	24	2700	c.2606A>G	c.(2605-2607)cAa>cGa	p.Q869R	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	869					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AAGCAGCTCTTGGTCCACATG	0.612																																					NSCLC(133;1088 1848 27708 34777 35269)	NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	0				skin(1)	1						c.(2605-2607)CAA>CGA		cleavage and polyadenylation specific factor 1,							47.0	39.0	42.0					8																	145622131		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622131T>C	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2606A>G	8.37:g.145622131T>C	ENSP00000339353:p.Gln869Arg						p.Q869R	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		24	2681	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		869					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2606A>G	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	t	10.05	1.243401	0.22796	.	.	ENSG00000071894	ENST00000349769	T	0.43688	0.94	4.78	3.63	0.41609	.	0.270472	0.36703	N	0.002447	T	0.25901	0.0631	L	0.33485	1.01	0.41908	D	0.990457	B	0.18863	0.031	B	0.17098	0.017	T	0.06991	-1.0796	10	0.17369	T	0.5	-7.6694	4.7619	0.13111	0.0:0.0978:0.1918:0.7104	.	869	Q10570	CPSF1_HUMAN	R	869	ENSP00000339353:Q869R	ENSP00000339353:Q869R	Q	-	2	0	CPSF1	145592939	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.443000	0.66581	0.877000	0.35895	0.392000	0.25879	CAA		0.612	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		11	12	0	0	0	0.001368	0	11	12				
ZNF252P	286101	broad.mit.edu	37	8	146220657	146220657	+	RNA	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:146220657G>C	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						ATGAAGCATGGAGTGGAGGTG	0.418																																							uc003zey.2		NA																	0					0						c.(385-387)GGA>GCA		Homo sapiens mRNA for Tmp21-II putative transcribed pseudogene.																																						286102							g.chr8:146220657G>C	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220657G>C						ZNF252_uc003zew.3_Intron|ZNF252_uc011llo.1_Intron	p.G129A	NR_002807						1	407	+									Missense_Mutation	SNP	ENST00000426361.2	37	c.386G>C																																																																																					0.418	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		6	34	0	0	0	0.001168	0	6	34				
DMRT2	10655	broad.mit.edu	37	9	1057240	1057240	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:1057240G>A	ENST00000358146.2	+	3	1653	c.1653G>A	c.(1651-1653)agG>agA	p.R551R	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Silent_p.R551R|DMRT2_ENST00000302441.6_Silent_p.R551R			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	551					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTCTTAAGAGGCCTTCATCTG	0.398																																							uc003zha.2		NA																	0					0						c.(1651-1653)AGG>AGA		doublesex and mab-3 related transcription factor							69.0	69.0	69.0					9																	1057240		2203	4300	6503	SO:0001819	synonymous_variant	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1057240G>A	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1653G>A	9.37:g.1057240G>A						DMRT2_uc003zgx.3_Silent_p.R318R|DMRT2_uc010mgz.2_Silent_p.R318R|DMRT2_uc003zgy.3_Silent_p.R395R|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.R551R	p.R551R	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1853	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	551					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	ENST00000358146.2	37	c.1653G>A	CCDS6444.1																																																																																				0.398	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		15	37	0	0	0	0.004007	0	15	37				
INSL4	3641	broad.mit.edu	37	9	5233662	5233662	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:5233662T>C	ENST00000239316.4	+	2	310	c.205T>C	c.(205-207)Tca>Cca	p.S69P		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	69					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		AGAAATGGTGTCAACCTCCAA	0.403																																							uc003ziy.2		NA																	0					0						c.(205-207)TCA>CCA		insulin-like 4 precursor							60.0	57.0	58.0					9																	5233662		2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5233662T>C		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.205T>C	9.37:g.5233662T>C	ENSP00000239316:p.Ser69Pro						p.S69P	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	2	310	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	69					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.205T>C	CCDS6459.1	.	.	.	.	.	.	.	.	.	.	T	6.710	0.499596	0.12762	.	.	ENSG00000120211	ENST00000239316	T	0.17370	2.28	1.77	-2.14	0.07123	.	.	.	.	.	T	0.05135	0.0137	N	0.04018	-0.295	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.40327	-0.9569	9	0.02654	T	1	.	6.247	0.20825	0.0:0.6234:0.0:0.3766	.	69	Q14641	INSL4_HUMAN	P	69	ENSP00000239316:S69P	ENSP00000239316:S69P	S	+	1	0	INSL4	5223662	0.000000	0.05858	0.048000	0.18961	0.037000	0.13140	-2.827000	0.00746	-0.620000	0.05641	0.358000	0.22013	TCA		0.403	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		14	21	0	0	0	0.001855	0	14	21				
RLN2	6019	broad.mit.edu	37	9	5300235	5300235	+	Missense_Mutation	SNP	C	C	A	rs61738985	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:5300235C>A	ENST00000381627.3	-	2	809	c.421G>T	c.(421-423)Gca>Tca	p.A141S	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	141					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTGCTGTCTGCGGCTTCACTT	0.368																																							uc003zja.1		NA																	0					0						c.(421-423)GCA>TCA		relaxin 2 isoform 1 preproprotein							126.0	125.0	125.0					9																	5300235		2203	4300	6503	SO:0001583	missense	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300235C>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.421G>T	9.37:g.5300235C>A	ENSP00000371040:p.Ala141Ser					RLN2_uc003ziz.1_3'UTR	p.A141S	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	421	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	141					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	c.421G>T	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108334	0.20714	.	.	ENSG00000107014	ENST00000381627	D	0.88664	-2.41	3.33	0.306	0.15806	Insulin-like (3);	1.252590	0.05682	N	0.590621	T	0.81763	0.4891	L	0.29908	0.895	0.09310	N	1	B	0.25850	0.136	B	0.29524	0.103	T	0.68372	-0.5426	10	0.54805	T	0.06	.	3.2518	0.06818	0.2002:0.5704:0.0:0.2294	.	141	P04090	REL2_HUMAN	S	141	ENSP00000371040:A141S	ENSP00000371040:A141S	A	-	1	0	RLN2	5290235	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	1.303000	0.33470	0.036000	0.15547	-1.023000	0.02433	GCA		0.368	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		13	80	1	0	7.03913e-09	0.001368	1.02453e-08	13	80				
PTPRD	5789	broad.mit.edu	37	9	8521291	8521291	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:8521291T>C	ENST00000381196.4	-	17	1490	c.947A>G	c.(946-948)cAg>cGg	p.Q316R	PTPRD_ENST00000397611.3_Missense_Mutation_p.Q313R|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q303R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q316R|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q313R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q316R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q316R|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q306R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q316R|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q306R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q303R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	316	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACAGTGATCTGTGCTATTGC	0.418										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(946-948)CAG>CGG		protein tyrosine phosphatase, receptor type, D							134.0	116.0	122.0					9																	8521291		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521291T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.947A>G	9.37:g.8521291T>C	ENSP00000370593:p.Gln316Arg	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.Q316R|PTPRD_uc003zkq.2_Missense_Mutation_p.Q316R|PTPRD_uc003zkr.2_Missense_Mutation_p.Q310R|PTPRD_uc003zks.2_Missense_Mutation_p.Q306R|PTPRD_uc003zkl.2_Missense_Mutation_p.Q316R|PTPRD_uc003zkm.2_Missense_Mutation_p.Q303R|PTPRD_uc003zkn.2_Missense_Mutation_p.Q316R|PTPRD_uc003zko.2_Missense_Mutation_p.Q313R	p.Q316R	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	19	1658	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	316			Extracellular (Potential).|Ig-like C2-type 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.947A>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509328	0.64522	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	6.06	6.06	0.98353	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	L	0.31420	0.93	0.80722	D	1	D;D;D;D;B;D;P;D;D	0.76494	0.996;0.996;0.989;0.999;0.299;0.973;0.929;0.982;0.995	D;D;D;D;B;P;P;D;D	0.85130	0.963;0.997;0.943;0.997;0.085;0.879;0.853;0.989;0.945	T	0.71938	-0.4441	9	.	.	.	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	306;310;316;316;313;313;303;316;316	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	316;316;303;303;316;306;313;313;316;316;316;306	ENSP00000370593:Q316R;ENSP00000348812:Q316R;ENSP00000353187:Q303R;ENSP00000351293:Q303R;ENSP00000347373:Q316R;ENSP00000380741:Q306R;ENSP00000380735:Q313R;ENSP00000440515:Q313R;ENSP00000438164:Q316R;ENSP00000417093:Q316R;ENSP00000380731:Q306R	.	Q	-	2	0	PTPRD	8511291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.324000	0.78689	0.533000	0.62120	CAG		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			10	41	0	0	0	0.006214	0	10	41				
CCDC171	203238	broad.mit.edu	37	9	15971664	15971664	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:15971664G>A	ENST00000380701.3	+	26	4139	c.3811G>A	c.(3811-3813)Gac>Aac	p.D1271N	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1271																	TCTTCCTGCTGACACAACTGG	0.368																																							uc003zmd.2		NA																	0					0						c.(3811-3813)GAC>AAC		hypothetical protein LOC203238							185.0	174.0	178.0					9																	15971664		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15971664G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3811G>A	9.37:g.15971664G>A	ENSP00000370077:p.Asp1271Asn					C9orf93_uc003zme.2_Missense_Mutation_p.D1186N|C9orf93_uc011lmu.1_Missense_Mutation_p.D1279N	p.D1271N	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	26	4126	+			1271					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3811G>A	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039711	0.55003	.	.	ENSG00000164989	ENST00000380701	T	0.17370	2.28	4.95	4.95	0.65309	.	0.090020	0.44285	D	0.000468	T	0.12220	0.0297	N	0.24115	0.695	0.80722	D	1	B;B	0.17268	0.021;0.008	B;B	0.19946	0.027;0.018	T	0.07424	-1.0773	10	0.38643	T	0.18	-6.1098	11.0383	0.47816	0.0849:0.0:0.9151:0.0	.	1279;1271	B7ZM22;Q6TFL3	.;CI093_HUMAN	N	1271	ENSP00000370077:D1271N	ENSP00000370077:D1271N	D	+	1	0	C9orf93	15961664	1.000000	0.71417	0.992000	0.48379	0.927000	0.56198	4.484000	0.60271	2.566000	0.86566	0.655000	0.94253	GAC		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		18	113	0	0	0	0.007413	0	18	113				
IFNA7	3444	broad.mit.edu	37	9	21201913	21201913	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:21201913G>A	ENST00000239347.3	-	1	291	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	84					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTCTGCTGGATCATCTCAT	0.478																																							uc003zop.1		NA																	0					0						c.(250-252)ATC>ATT		interferon, alpha 7 precursor							88.0	87.0	87.0					9																	21201913		2203	4298	6501	SO:0001819	synonymous_variant	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201913G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.252C>T	9.37:g.21201913G>A						IFNA14_uc003zoo.1_Intron	p.I84I	NM_021057	NP_066401	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	292	-			84					Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	c.252C>T	CCDS34995.1																																																																																				0.478	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		22	148	0	0	0	0.003954	0	22	148				
IFNK	56832	broad.mit.edu	37	9	27524686	27524686	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:27524686C>A	ENST00000276943.2	+	1	375	c.352C>A	c.(352-354)Ctt>Att	p.L118I	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	118					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CCAAATAGGACTTGATCAGCA	0.408																																							uc003zqp.2		NA																	0					0						c.(352-354)CTT>ATT		interferon kappa precursor							141.0	147.0	145.0					9																	27524686		2203	4300	6503	SO:0001583	missense	56832				cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:27524686C>A	AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.352C>A	9.37:g.27524686C>A	ENSP00000276943:p.Leu118Ile					MOBKL2B_uc003zqn.2_Intron	p.L118I	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)	1	375	+		all_neural(11;7.9e-11)	118			Potential.		Q5T166	Missense_Mutation	SNP	ENST00000276943.2	37	c.352C>A	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387941	0.61956	.	.	ENSG00000147896	ENST00000276943	T	0.38240	1.15	6.16	4.23	0.50019	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.162998	0.41194	D	0.000921	T	0.56688	0.2002	M	0.80028	2.48	0.22266	N	0.999241	D	0.76494	0.999	D	0.71656	0.974	T	0.51132	-0.8744	10	0.72032	D	0.01	-12.7676	7.8918	0.29682	0.0:0.7549:0.1615:0.0836	.	118	Q9P0W0	IFNK_HUMAN	I	118	ENSP00000276943:L118I	ENSP00000276943:L118I	L	+	1	0	IFNK	27514686	0.877000	0.30153	0.307000	0.25127	0.008000	0.06430	0.394000	0.20834	1.617000	0.50277	0.650000	0.86243	CTT		0.408	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124		17	146	1	0	1.01871e-10	0.008871	1.57581e-10	17	146				
C9orf72	203228	broad.mit.edu	37	9	27548256	27548256	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:27548256C>A	ENST00000380003.3	-	11	1487	c.1424G>T	c.(1423-1425)cGa>cTa	p.R475L	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	475					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TAGAACATCTCGTTCTTGCAC	0.403																																							uc003zqq.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1423-1425)CGA>CTA		hypothetical protein LOC203228 isoform a							93.0	88.0	89.0					9																	27548256		2203	4300	6503	SO:0001583	missense	203228							g.chr9:27548256C>A	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1424G>T	9.37:g.27548256C>A	ENSP00000369339:p.Arg475Leu						p.R475L	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	11	1521	-		all_neural(11;7.57e-10)	475					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	c.1424G>T	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592682	0.66219	.	.	ENSG00000147894	ENST00000380003	T	0.53423	0.62	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	N	0.19112	0.55	0.80722	D	1	B	0.23990	0.095	B	0.28011	0.085	T	0.12528	-1.0544	9	.	.	.	.	14.3811	0.66911	0.0:0.9298:0.0:0.0702	.	475	Q96LT7	CI072_HUMAN	L	475	ENSP00000369339:R475L	.	R	-	2	0	C9orf72	27538256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.774000	0.68906	2.792000	0.96026	0.555000	0.69702	CGA		0.403	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		23	21	1	0	1.10513e-12	0.002299	1.81519e-12	23	21				
LINGO2	158038	broad.mit.edu	37	9	27949889	27949889	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:27949889G>T	ENST00000379992.2	-	6	1230	c.781C>A	c.(781-783)Ctg>Atg	p.L261M	LINGO2_ENST00000308675.3_Missense_Mutation_p.L261M	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	261						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ACAGTAGACAGATTGGTGTTG	0.463																																							uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(781-783)CTG>ATG		leucine rich repeat and Ig domain containing 2							259.0	235.0	243.0					9																	27949889		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949889G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.781C>A	9.37:g.27949889G>T	ENSP00000369328:p.Leu261Met					LINGO2_uc010mjf.1_Missense_Mutation_p.L261M|LINGO2_uc003zqv.1_Missense_Mutation_p.L261M	p.L261M	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	975	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	261			LRR 9.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.781C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	6.224	0.409473	0.11812	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.83992	-1.79;-1.79	5.96	0.859	0.19036	.	0.000000	0.64402	D	0.000001	D	0.89504	0.6734	M	0.83384	2.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87440	0.2394	9	.	.	.	.	9.9808	0.41813	0.3359:0.0:0.6641:0.0	.	261	Q7L985	LIGO2_HUMAN	M	261	ENSP00000369328:L261M;ENSP00000310126:L261M	.	L	-	1	2	LINGO2	27939889	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	1.465000	0.35299	0.108000	0.17862	-0.136000	0.14681	CTG		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		26	183	1	0	1.42536e-11	0.004656	2.26458e-11	26	183				
NFX1	4799	broad.mit.edu	37	9	33364755	33364755	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:33364755G>A	ENST00000379540.3	+	21	3084	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NFX1_ENST00000379521.4_Missense_Mutation_p.V1008M	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1008	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GGAAACCCTCGTGGAGGCCGT	0.423																																							uc003zsq.2		NA																	0				ovary(1)	1						c.(3022-3024)GTG>ATG		nuclear transcription factor, X-box binding 1							82.0	76.0	78.0					9																	33364755		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33364755G>A	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.3022G>A	9.37:g.33364755G>A	ENSP00000368856:p.Val1008Met					SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsp.1_Missense_Mutation_p.V1008M|NFX1_uc010mjr.1_Missense_Mutation_p.V1009M|NFX1_uc003zsr.2_Missense_Mutation_p.V1009M	p.V1008M	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	21	3083	+			1008			R3H.		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.3022G>A	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847477	0.91277	.	.	ENSG00000086102	ENST00000379540;ENST00000379521	T;T	0.48836	0.8;1.33	5.98	5.98	0.97165	Single-stranded nucleic acid binding R3H (2);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.98;0.983	T	0.73500	-0.3963	10	0.72032	D	0.01	-3.4903	17.95	0.89050	0.0:0.0:1.0:0.0	.	1008;1008	Q12986;Q12986-2	NFX1_HUMAN;.	M	1008	ENSP00000368856:V1008M;ENSP00000368836:V1008M	ENSP00000368836:V1008M	V	+	1	0	NFX1	33354755	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.524000	0.81866	2.847000	0.97988	0.591000	0.81541	GTG		0.423	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			4	29	0	0	0	0.001168	0	4	29				
VCP	7415	broad.mit.edu	37	9	35065277	35065277	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:35065277G>A	ENST00000358901.6	-	5	1442	c.547C>T	c.(547-549)Cac>Tac	p.H183Y		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	183					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCTTCGCAGTGGATCACTGTG	0.473																																							uc003zvy.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(547-549)CAC>TAC		valosin-containing protein							125.0	109.0	114.0					9																	35065277		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35065277G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.547C>T	9.37:g.35065277G>A	ENSP00000351777:p.His183Tyr					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.H138Y	p.H183Y	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	936	-			183					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.547C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.558840	0.65538	.	.	ENSG00000165280	ENST00000358901;ENST00000448530	D;D	0.95137	-3.62;-3.62	6.07	6.07	0.98685	Cell division protein 48, Cdc48, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	L	0.56280	1.765	0.80722	D	1	B	0.12630	0.006	B	0.17433	0.018	D	0.88415	0.3024	10	0.19147	T	0.46	-28.7483	20.6593	0.99626	0.0:0.0:1.0:0.0	.	183	P55072	TERA_HUMAN	Y	183;138	ENSP00000351777:H183Y;ENSP00000392088:H138Y	ENSP00000351777:H183Y	H	-	1	0	VCP	35055277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.682000	0.98655	2.885000	0.99019	0.655000	0.94253	CAC		0.473	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		19	42	0	0	0	0.007413	0	19	42				
RECK	8434	broad.mit.edu	37	9	36117143	36117143	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:36117143G>T	ENST00000377966.3	+	17	2788	c.2222G>T	c.(2221-2223)gGa>gTa	p.G741V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	741	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TACCAAAGAGGAAAAAGCCTC	0.438																																							uc003zyv.2		NA																	0				skin(2)|ovary(1)	3						c.(2221-2223)GGA>GTA		RECK protein precursor							118.0	106.0	110.0					9																	36117143		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36117143G>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2222G>T	9.37:g.36117143G>T	ENSP00000367202:p.Gly741Val					RECK_uc003zyw.2_Missense_Mutation_p.G613V|RECK_uc003zyx.2_RNA	p.G741V	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		17	2308	+			741			Kazal-like 2.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2222G>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787939	0.90367	.	.	ENSG00000122707	ENST00000377966	T	0.04119	3.7	5.76	5.76	0.90799	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.060100	0.64402	D	0.000003	T	0.21801	0.0525	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.00022	-1.2339	10	0.72032	D	0.01	-12.9518	17.4698	0.87642	0.0:0.0:1.0:0.0	.	741;741	A8K9D8;O95980	.;RECK_HUMAN	V	741	ENSP00000367202:G741V	ENSP00000367202:G741V	G	+	2	0	RECK	36107143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.174000	0.94824	2.713000	0.92767	0.655000	0.94253	GGA		0.438	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			7	28	1	0	5.18039e-06	0.00308	6.58689e-06	7	28				
MELK	9833	broad.mit.edu	37	9	36633107	36633107	+	Silent	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:36633107A>T	ENST00000298048.2	+	10	928	c.744A>T	c.(742-744)ccA>ccT	p.P248P	MELK_ENST00000538311.1_Silent_p.P54P|MELK_ENST00000536329.1_Silent_p.P177P|MELK_ENST00000541717.1_Silent_p.P248P|MELK_ENST00000536987.1_Silent_p.P117P|MELK_ENST00000536860.1_Silent_p.P200P|MELK_ENST00000543751.1_Silent_p.P216P|MELK_ENST00000545008.1_Silent_p.P177P	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AGGTGGACCCAAAGAAACGGA	0.363																																					Ovarian(82;980 1317 7225 14391 18624)	Ovarian(82;980 1317 7225 14391 18624)	uc003zzn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(742-744)CCA>CCT		maternal embryonic leucine zipper kinase							83.0	83.0	83.0					9																	36633107		2203	4300	6503	SO:0001819	synonymous_variant	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36633107A>T	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.744A>T	9.37:g.36633107A>T						MELK_uc011lpm.1_Silent_p.P117P|MELK_uc011lpn.1_Silent_p.P248P|MELK_uc011lpo.1_Silent_p.P54P|MELK_uc010mll.2_Silent_p.P216P|MELK_uc011lpp.1_Silent_p.P200P|MELK_uc010mlm.2_Silent_p.P177P|MELK_uc011lpq.1_Silent_p.P54P|MELK_uc011lpr.1_Silent_p.P177P|MELK_uc011lps.1_Silent_p.P168P	p.P248P	NM_014791	NP_055606	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		10	882	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	248			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	c.744A>T	CCDS6606.1																																																																																				0.363	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		19	42	0	0	0	0.006122	0	19	42				
TRPM3	80036	broad.mit.edu	37	9	73255569	73255569	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:73255569A>T	ENST00000377111.2	-	10	1596	c.1353T>A	c.(1351-1353)aaT>aaA	p.N451K	TRPM3_ENST00000377105.1_Missense_Mutation_p.N298K|TRPM3_ENST00000360823.2_Missense_Mutation_p.N323K|TRPM3_ENST00000377110.3_Missense_Mutation_p.N451K|TRPM3_ENST00000396292.4_Missense_Mutation_p.N323K|TRPM3_ENST00000357533.2_Missense_Mutation_p.N453K|TRPM3_ENST00000358082.3_Missense_Mutation_p.N323K|TRPM3_ENST00000408909.2_Missense_Mutation_p.N298K|TRPM3_ENST00000423814.3_Missense_Mutation_p.N478K|TRPM3_ENST00000396285.1_Missense_Mutation_p.N298K|TRPM3_ENST00000396280.5_Missense_Mutation_p.N298K|TRPM3_ENST00000377106.1_Missense_Mutation_p.N323K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	476					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGCCGAGGCATTGGCTCCTG	0.522											OREG0019249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1351-1353)AAT>AAA		transient receptor potential cation channel,							75.0	66.0	69.0					9																	73255569		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73255569A>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1353T>A	9.37:g.73255569A>T	ENSP00000366315:p.Asn451Lys		OREG0019249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1143	TRPM3_uc004ahu.2_Missense_Mutation_p.N281K|TRPM3_uc004ahv.2_Missense_Mutation_p.N281K|TRPM3_uc004ahw.2_Missense_Mutation_p.N323K|TRPM3_uc004ahx.2_Missense_Mutation_p.N298K|TRPM3_uc004ahy.2_Missense_Mutation_p.N323K|TRPM3_uc004ahz.2_Missense_Mutation_p.N298K|TRPM3_uc004aia.2_Missense_Mutation_p.N298K|TRPM3_uc004aib.2_Missense_Mutation_p.N298K|TRPM3_uc004aic.2_Missense_Mutation_p.N451K|TRPM3_uc010mor.2_Missense_Mutation_p.N451K	p.N451K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			10	1597	-			476			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1353T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.03|16.03	3.007492|3.007492	0.54361|0.54361	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.26810	.|1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.85|5.85	2.22|2.22	0.28083|0.28083	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42291|0.42291	0.1196|0.1196	M|M	0.62088|0.62088	1.915|1.915	0.42422|0.42422	D|D	0.992648|0.992648	.|B;P;B;D;B;B;D;P;B	.|0.67145	.|0.11;0.756;0.367;0.996;0.127;0.027;0.996;0.725;0.003	.|B;P;B;D;B;B;D;B;B	.|0.78314	.|0.046;0.461;0.141;0.991;0.028;0.04;0.991;0.439;0.012	T|T	0.14254|0.14254	-1.0479|-1.0479	5|10	.|0.30078	.|T	.|0.28	-20.5067|-20.5067	10.2838|10.2838	0.43556|0.43556	0.7449:0.0:0.2551:0.0|0.7449:0.0:0.2551:0.0	.|.	.|476;451;451;451;453;323;298;451;298	.|Q9HCF6;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.	S|K	298|451;451;323;323;298;453;298;298;323;323;478	.|ENSP00000366315:N451K;ENSP00000366314:N451K;ENSP00000366310:N323K;ENSP00000354066:N323K;ENSP00000366309:N298K;ENSP00000350140:N453K;ENSP00000386127:N298K;ENSP00000379581:N298K;ENSP00000379587:N323K;ENSP00000350791:N323K;ENSP00000389542:N478K	.|ENSP00000350140:N453K	C|N	-|-	1|3	0|2	TRPM3|TRPM3	72445389|72445389	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.374000|0.374000	0.20501|0.20501	0.490000|0.490000	0.27771|0.27771	0.533000|0.533000	0.62120|0.62120	TGC|AAT		0.522	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		3	11	0	0	0	0.004672	0	3	11				
TRPM3	80036	broad.mit.edu	37	9	73442800	73442800	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:73442800T>C	ENST00000377111.2	-	6	1179	c.936A>G	c.(934-936)caA>caG	p.Q312Q	TRPM3_ENST00000377105.1_Silent_p.Q159Q|TRPM3_ENST00000360823.2_Silent_p.Q159Q|TRPM3_ENST00000377101.1_Silent_p.Q159Q|TRPM3_ENST00000377110.3_Silent_p.Q312Q|TRPM3_ENST00000396283.1_Silent_p.Q159Q|TRPM3_ENST00000396292.4_Silent_p.Q159Q|TRPM3_ENST00000357533.2_Silent_p.Q314Q|TRPM3_ENST00000358082.3_Silent_p.Q159Q|TRPM3_ENST00000408909.2_Silent_p.Q159Q|TRPM3_ENST00000423814.3_Silent_p.Q314Q|TRPM3_ENST00000396285.1_Silent_p.Q159Q|TRPM3_ENST00000396280.5_Silent_p.Q159Q|TRPM3_ENST00000361823.5_Silent_p.Q159Q|TRPM3_ENST00000377106.1_Silent_p.Q159Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	312					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTTTTCCAGTTGTCTTCGAA	0.448																																							uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(934-936)CAA>CAG		transient receptor potential cation channel,							229.0	203.0	211.0					9																	73442800		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73442800T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.936A>G	9.37:g.73442800T>C						TRPM3_uc004ahu.2_Silent_p.Q142Q|TRPM3_uc004ahv.2_Silent_p.Q142Q|TRPM3_uc004ahw.2_Silent_p.Q159Q|TRPM3_uc004ahx.2_Silent_p.Q159Q|TRPM3_uc004ahy.2_Silent_p.Q159Q|TRPM3_uc004ahz.2_Silent_p.Q159Q|TRPM3_uc004aia.2_Silent_p.Q159Q|TRPM3_uc004aib.2_Silent_p.Q159Q|TRPM3_uc004aic.2_Silent_p.Q312Q|TRPM3_uc010mor.2_Silent_p.Q312Q|TRPM3_uc004aie.2_Silent_p.Q159Q|TRPM3_uc004aif.2_Silent_p.Q159Q|TRPM3_uc004aig.2_Silent_p.Q159Q|TRPM3_uc004aii.2_Silent_p.Q314Q	p.Q312Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			6	1180	-			312			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.936A>G		.	.	.	.	.	.	.	.	.	.	T	9.834	1.189264	0.21954	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.53	3.2	0.36748	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37197	-0.9716	4	.	.	.	-24.8765	3.8024	0.08764	0.0:0.2813:0.1916:0.5271	.	.	.	.	A	159	.	.	T	-	1	0	TRPM3	72632620	0.966000	0.33281	1.000000	0.80357	0.998000	0.95712	0.150000	0.16263	0.946000	0.37632	0.528000	0.53228	ACT		0.448	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		20	71	0	0	0	0.010504	0	20	71				
PRUNE2	158471	broad.mit.edu	37	9	79325548	79325548	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:79325548T>G	ENST00000376718.3	-	8	1765	c.1642A>C	c.(1642-1644)Aat>Cat	p.N548H	PRUNE2_ENST00000428286.1_Missense_Mutation_p.N189H	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	548					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATGAATAATTAGACATGTTG	0.502																																							uc010mpk.2		NA																	0					0						c.(1642-1644)AAT>CAT		prune homolog 2							37.0	33.0	34.0					9																	79325548		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325548T>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1642A>C	9.37:g.79325548T>G	ENSP00000365908:p.Asn548His						p.N548H	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	1766	-			548					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1642A>C	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273179	0.23221	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.53423	0.62;0.66	5.71	5.71	0.89125	.	0.347790	0.24818	N	0.035359	T	0.34279	0.0892	N	0.20986	0.625	0.80722	D	1	P	0.37441	0.595	B	0.34931	0.192	T	0.32025	-0.9922	10	0.87932	D	0	-5.5041	11.9116	0.52743	0.0:0.0:0.1453:0.8547	.	548	Q8WUY3	PRUN2_HUMAN	H	548;189;547	ENSP00000365908:N548H;ENSP00000397425:N189H	ENSP00000365908:N548H	N	-	1	0	PRUNE2	78515368	0.990000	0.36364	0.622000	0.29159	0.012000	0.07955	2.489000	0.45285	2.186000	0.69663	0.533000	0.62120	AAT		0.502	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		8	11	0	0	0	0.00308	0	8	11				
FOXB2	442425	broad.mit.edu	37	9	79635203	79635203	+	Silent	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:79635203G>C	ENST00000376708.1	+	1	633	c.633G>C	c.(631-633)ccG>ccC	p.P211P		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	211					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CTCAGCAGCCGTCTCACCCCG	0.736																																							uc004ako.1		NA																	0					0						c.(631-633)CCG>CCC		forkhead box B2							7.0	9.0	8.0					9																	79635203		1932	3831	5763	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding	g.chr9:79635203G>C		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.633G>C	9.37:g.79635203G>C							p.P211P	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	633	+			211						Silent	SNP	ENST00000376708.1	37	c.633G>C	CCDS35045.1																																																																																				0.736	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		3	6	0	0	0	0.004672	0	3	6				
SPATA31D1	389763	broad.mit.edu	37	9	84607054	84607054	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:84607054A>C	ENST00000344803.2	+	4	1716	c.1669A>C	c.(1669-1671)Agt>Cgt	p.S557R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	557					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCCTTGCCTAGTACCCAACC	0.512																																							uc004amn.2		NA																	0					0						c.(1669-1671)AGT>CGT		hypothetical protein LOC389763							137.0	129.0	132.0					9																	84607054		1932	4122	6054	SO:0001583	missense	389763					integral to membrane		g.chr9:84607054A>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1669A>C	9.37:g.84607054A>C	ENSP00000341988:p.Ser557Arg						p.S557R	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1716	+			557						Missense_Mutation	SNP	ENST00000344803.2	37	c.1669A>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604959	0.28623	.	.	ENSG00000214929	ENST00000344803	T	0.06608	3.28	3.47	-1.2	0.09554	.	1.768680	0.02627	N	0.103825	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.21753	0.06	B	0.17979	0.02	T	0.39121	-0.9629	10	0.45353	T	0.12	-0.9176	3.56	0.07878	0.3765:0.1984:0.425:0.0	.	557	Q6ZQQ2	F75D1_HUMAN	R	557	ENSP00000341988:S557R	ENSP00000341988:S557R	S	+	1	0	FAM75D1	83796874	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.004000	0.12878	-0.022000	0.13986	-0.456000	0.05471	AGT		0.512	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		21	57	0	0	0	0.00278	0	21	57				
SPATA31E1	286234	broad.mit.edu	37	9	90500556	90500556	+	Missense_Mutation	SNP	G	G	A	rs201505051		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:90500556G>A	ENST00000325643.5	+	4	1220	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	385					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAAGAAAACGGGCCGACCAC	0.572																																							uc004app.3		NA																	0				ovary(3)	3						c.(1153-1155)CGG>CAG		chromosome 9 open reading frame 79							67.0	65.0	66.0					9																	90500556		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90500556G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1154G>A	9.37:g.90500556G>A	ENSP00000322640:p.Arg385Gln					C9orf79_uc004apo.1_Missense_Mutation_p.R197Q	p.R385Q	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1189	+			385					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1154G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	4.783	0.145615	0.09134	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03242	4.0	1.92	1.92	0.25849	.	3.181030	0.01039	N	0.004266	T	0.02610	0.0079	N	0.22421	0.69	0.09310	N	1	P;P	0.49090	0.834;0.919	B;B	0.34418	0.182;0.096	T	0.38714	-0.9648	10	0.10902	T	0.67	.	7.4161	0.27044	0.0:0.0:1.0:0.0	.	385;37	Q6ZUB1;Q8NA33	CI079_HUMAN;.	Q	385;37	ENSP00000322640:R385Q	ENSP00000322640:R385Q	R	+	2	0	C9orf79	89690376	0.002000	0.14202	0.003000	0.11579	0.010000	0.07245	1.055000	0.30467	1.435000	0.47434	0.644000	0.83932	CGG		0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		10	44	0	0	0	0.008291	0	10	44				
SPATA31C2	645961	broad.mit.edu	37	9	90744806	90744806	+	IGR	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:90744806C>T								U6 (131556 upstream) : U3 (244377 downstream)																							AGCTTCAGCACTGCTGCCGTA	0.463																																							uc011lti.1		NA																	0					NA						c.(3145-3147)AGT>AAT		SubName: Full=cDNA FLJ59639;							38.0	37.0	37.0					9																	90744806		692	1591	2283	SO:0001628	intergenic_variant	0							g.chr9:90744806C>T																													9.37:g.90744806C>T						uc004apx.1_5'Flank	p.S1049N							4	3175	-									Missense_Mutation	SNP		37	c.3146G>A																																																																																				0	0.463									27	62	0	0	0	0.009535	0	27	62				
ZNF484	83744	broad.mit.edu	37	9	95608877	95608877	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:95608877T>C	ENST00000375495.3	-	5	2340	c.2192A>G	c.(2191-2193)cAg>cGg	p.Q731R	ZNF484_ENST00000332591.6_Missense_Mutation_p.Q695R|ZNF484_ENST00000395506.3_Missense_Mutation_p.Q733R|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.Q695R	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	731					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTGTGACTTCTGGATGAAGGA	0.378																																							uc004asu.1		NA																	0					0						c.(2191-2193)CAG>CGG		zinc finger protein 484 isoform a							69.0	72.0	71.0					9																	95608877		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608877T>C	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2192A>G	9.37:g.95608877T>C	ENSP00000364645:p.Gln731Arg					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.Q733R|ZNF484_uc010mrb.1_Missense_Mutation_p.Q695R|ZNF484_uc004asv.1_Missense_Mutation_p.Q695R	p.Q731R	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	2341	-			731			C2H2-type 17.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2192A>G	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	4.925	0.171832	0.09391	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	2.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05181	0.0138	N	0.17594	0.5	0.09310	N	1	P;P	0.43392	0.805;0.805	B;B	0.41646	0.362;0.273	T	0.24476	-1.0159	9	0.10377	T	0.69	.	9.0893	0.36601	0.0:0.0:0.0:1.0	.	733;731	B4DRI2;Q5JVG2	.;ZN484_HUMAN	R	695;733;731;695	ENSP00000378881:Q695R;ENSP00000378882:Q733R;ENSP00000364645:Q731R;ENSP00000364646:Q695R	ENSP00000364646:Q695R	Q	-	2	0	ZNF484	94648698	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-0.554000	0.06006	1.451000	0.47736	0.450000	0.29827	CAG		0.378	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		11	33	0	0	0	0.008291	0	11	33				
BAAT	570	broad.mit.edu	37	9	104133520	104133520	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:104133520C>A	ENST00000395051.3	-	1	237	c.167G>T	c.(166-168)gGt>gTt	p.G56V	BAAT_ENST00000259407.2_Missense_Mutation_p.G56V			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	56					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GTCCACCTCACCGAATTCATT	0.463																																							uc010mtd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(166-168)GGT>GTT		bile acid Coenzyme A: amino acid	Glycine(DB00145)						112.0	107.0	109.0					9																	104133520		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133520C>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.167G>T	9.37:g.104133520C>A	ENSP00000378491:p.Gly56Val					BAAT_uc004bbd.3_Missense_Mutation_p.G56V	p.G56V	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			2	276	-		Acute lymphoblastic leukemia(62;0.0559)	56					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.167G>T	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861712	0.51482	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	D;D	0.95788	-3.81;-3.81	4.41	4.41	0.53225	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.090757	0.46758	D	0.000268	D	0.98314	0.9441	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99323	1.0907	10	0.87932	D	0	-21.0141	14.5612	0.68136	0.0:1.0:0.0:0.0	.	56	Q14032	BAAT_HUMAN	V	56	ENSP00000259407:G56V;ENSP00000378491:G56V	ENSP00000259407:G56V	G	-	2	0	BAAT	103173341	1.000000	0.71417	0.718000	0.30602	0.142000	0.21351	6.848000	0.75409	2.262000	0.75019	0.655000	0.94253	GGT		0.463	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			13	37	1	0	2.68362e-12	0.001368	4.34905e-12	13	37				
GRIN3A	116443	broad.mit.edu	37	9	104448970	104448970	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:104448970G>T	ENST00000361820.3	-	2	1812	c.1212C>A	c.(1210-1212)acC>acA	p.T404T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	404					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTTGGATCATGGTGGCTGTGG	0.468																																							uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1210-1212)ACC>ACA		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						138.0	108.0	118.0					9																	104448970		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104448970G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1212C>A	9.37:g.104448970G>T						GRIN3A_uc004bbq.1_Silent_p.T404T	p.T404T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	1813	-		Acute lymphoblastic leukemia(62;0.0568)	404			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1212C>A	CCDS6758.1																																																																																				0.468	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			19	30	1	0	2.35188e-11	0.006122	3.71235e-11	19	30				
SVEP1	79987	broad.mit.edu	37	9	113169173	113169173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:113169173C>A	ENST00000401783.2	-	38	9043	c.8707G>T	c.(8707-8709)Gaa>Taa	p.E2903*	SVEP1_ENST00000297826.5_Nonsense_Mutation_p.E829*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E2880*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2903	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCAGGCCTTCCGTCACCCCA	0.552																																							uc010mtz.2		NA																	0				ovary(7)	7						c.(8707-8709)GAA>TAA		polydom							79.0	82.0	81.0					9																	113169173		2055	4208	6263	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169173C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8707G>T	9.37:g.113169173C>A	ENSP00000384917:p.Glu2903*					SVEP1_uc010mty.2_Nonsense_Mutation_p.E829*	p.E2903*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	9044	-			2903			Sushi 25.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.8707G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	51	18.331629	0.99903	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	.	.	.	5.66	3.59	0.41128	.	0.839205	0.11107	N	0.599036	.	.	.	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.0593	0.09831	0.0:0.5215:0.0:0.4785	.	.	.	.	X	2903;2880;829	.	ENSP00000297826:E829X	E	-	1	0	SVEP1	112208994	0.000000	0.05858	0.991000	0.47740	0.900000	0.52787	0.429000	0.21412	1.396000	0.46663	0.591000	0.81541	GAA		0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	43	1	0	1.08611e-07	0.010729	1.49384e-07	12	43				
SVEP1	79987	broad.mit.edu	37	9	113217973	113217973	+	Silent	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:113217973A>G	ENST00000401783.2	-	22	4020	c.3684T>C	c.(3682-3684)tgT>tgC	p.C1228C	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.C1228C|SVEP1_ENST00000374469.1_Silent_p.C1205C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1228	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTCTGTTTCACACTTTAAGC	0.403																																							uc010mtz.2		NA																	0				ovary(7)	7						c.(3682-3684)TGT>TGC		polydom							59.0	55.0	56.0					9																	113217973		1910	4129	6039	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113217973A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3684T>C	9.37:g.113217973A>G						SVEP1_uc010mua.1_Silent_p.C1228C	p.C1228C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			22	4021	-			1228			EGF-like 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.3684T>C	CCDS48004.1																																																																																				0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	11	0	0	0	0.000602	0	5	11				
BSPRY	54836	broad.mit.edu	37	9	116132008	116132008	+	Silent	SNP	C	C	T	rs201947061		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:116132008C>T	ENST00000374183.4	+	6	834	c.795C>T	c.(793-795)ggC>ggT	p.G265G	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	265	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GTGCAGATGGCCCGGAGCGCT	0.557																																							uc004bhg.3		NA																	0				breast(1)	1						c.(793-795)GGC>GGT		B-box and SPRY domain containing							57.0	61.0	60.0					9																	116132008		2036	4190	6226	SO:0001819	synonymous_variant	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116132008C>T	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.795C>T	9.37:g.116132008C>T						BSPRY_uc010muw.2_3'UTR	p.G265G	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			6	843	+			265			B30.2/SPRY.		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Silent	SNP	ENST00000374183.4	37	c.795C>T	CCDS43868.1																																																																																				0.557	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		14	37	0	0	0	0.00245	0	14	37				
LHX6	26468	broad.mit.edu	37	9	124976256	124976256	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:124976256G>T	ENST00000373755.2	-	6	897	c.789C>A	c.(787-789)atC>atA	p.I263I	LHX6_ENST00000394319.4_Silent_p.I292I|LHX6_ENST00000559895.1_Silent_p.I76I|LHX6_ENST00000464484.2_5'Flank|LHX6_ENST00000541397.2_Silent_p.I281I|LHX6_ENST00000373754.2_Silent_p.I263I|LHX6_ENST00000340587.3_Silent_p.I292I|LHX6_ENST00000482062.1_5'Flank	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	263					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						GTCCCACCTGGATGACTCTCC	0.716																																							uc010mvw.2		NA																	0					0						c.(787-789)ATC>ATA		LIM homeobox protein 6 isoform 1							19.0	21.0	21.0					9																	124976256		2191	4282	6473	SO:0001819	synonymous_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124976256G>T	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.789C>A	9.37:g.124976256G>T						LHX6_uc004blx.3_Silent_p.I292I|LHX6_uc004bly.3_Silent_p.I292I	p.I263I	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN			6	898	-			263			Homeobox.		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	c.789C>A	CCDS56583.1																																																																																				0.716	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		4	13	1	0	0.00024832	0.009096	0.000286393	4	13				
TOR1B	27348	broad.mit.edu	37	9	132569606	132569606	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:132569606G>C	ENST00000259339.2	+	3	665	c.605G>C	c.(604-606)gGa>gCa	p.G202A		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	202					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CAGGTTGACGGAGTGTCTTAC	0.473																																							uc004byk.1		NA																	0					0						c.(604-606)GGA>GCA		torsin family 1, member B (torsin B) precursor							213.0	204.0	207.0					9																	132569606		2203	4300	6503	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132569606G>C	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.605G>C	9.37:g.132569606G>C	ENSP00000259339:p.Gly202Ala						p.G202A	NM_014506	NP_055321	O14657	TOR1B_HUMAN			3	665	+		Ovarian(14;0.0586)	202						Missense_Mutation	SNP	ENST00000259339.2	37	c.605G>C	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772200	0.49680	.	.	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.29142	1.58	5.28	4.37	0.52481	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.56543	0.1992	M	0.89095	3.005	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.62877	-0.6761	10	0.48119	T	0.1	-16.4148	12.1073	0.53820	0.0839:0.0:0.9161:0.0	.	202	O14657	TOR1B_HUMAN	A	202;171	ENSP00000259339:G202A	ENSP00000259339:G202A	G	+	2	0	TOR1B	131609427	1.000000	0.71417	0.123000	0.21794	0.420000	0.31355	5.214000	0.65236	1.198000	0.43158	0.561000	0.74099	GGA		0.473	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		34	94	0	0	0	0.003755	0	34	94				
C9orf171	389799	broad.mit.edu	37	9	135357749	135357749	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:135357749C>T	ENST00000343036.2	+	2	296	c.248C>T	c.(247-249)gCg>gTg	p.A83V	C9orf171_ENST00000393216.2_Intron|C9orf171_ENST00000393215.3_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	83								p.A83E(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTCCTCAGCGGTGCAGAAA	0.493																																							uc004cbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(247-249)GCG>GTG		hypothetical protein LOC389799							98.0	92.0	94.0					9																	135357749		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135357749C>T	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.248C>T	9.37:g.135357749C>T	ENSP00000343290:p.Ala83Val					C9orf171_uc004cbo.2_Intron	p.A83V	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			2	296	+			83					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.248C>T	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057363	0.36277	.	.	ENSG00000188523	ENST00000343036	T	0.24350	1.86	4.99	-0.882	0.10604	.	1.184190	0.06333	N	0.706615	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31110	-0.9955	10	0.18710	T	0.47	.	3.6507	0.08202	0.4339:0.2864:0.0:0.2798	.	83	Q6ZQR2	CI171_HUMAN	V	83	ENSP00000343290:A83V	ENSP00000343290:A83V	A	+	2	0	C9orf171	134347570	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.245000	0.02899	-0.388000	0.07797	-0.169000	0.13324	GCG		0.493	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		14	25	0	0	0	0.003163	0	14	25				
AK8	158067	broad.mit.edu	37	9	135739083	135739083	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:135739083G>C	ENST00000298545.3	-	4	823	c.302C>G	c.(301-303)aCc>aGc	p.T101S	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	101	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCTGGCTTCGGTGGCCGTATA	0.542																																							uc004cbu.1		NA																	0					0						c.(301-303)ACC>AGC		putative adenylate kinase-like protein C9orf98							95.0	89.0	91.0					9																	135739083		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135739083G>C	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.302C>G	9.37:g.135739083G>C	ENSP00000298545:p.Thr101Ser					C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	p.T101S	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	4	858	-			101					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.302C>G	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096881	0.07010	.	.	ENSG00000165695	ENST00000298545	T	0.75938	-0.98	5.05	-9.43	0.00607	.	3.088790	0.00738	N	0.000995	T	0.47838	0.1467	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.44997	-0.9291	10	0.09084	T	0.74	7.4856	7.701	0.28623	0.1501:0.0768:0.0898:0.6833	.	101	Q96MA6	KAD8_HUMAN	S	101	ENSP00000298545:T101S	ENSP00000298545:T101S	T	-	2	0	AK8	134728904	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.223000	0.02962	-1.792000	0.01259	0.563000	0.77884	ACC		0.542	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		8	29	0	0	0	0.004482	0	8	29				
DBH	1621	broad.mit.edu	37	9	136501680	136501680	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:136501680T>C	ENST00000393056.2	+	1	199	c.187T>C	c.(187-189)Tgg>Cgg	p.W63R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	63	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGAGCTCTCATGGAATGTCAG	0.652																																							uc004cel.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(187-189)TGG>CGG		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						46.0	40.0	42.0					9																	136501680		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501680T>C	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.187T>C	9.37:g.136501680T>C	ENSP00000376776:p.Trp63Arg						p.W63R	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	196	+			63			DOMON.|Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.187T>C	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376328	0.61735	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	D;D	0.84070	-1.8;-1.8	5.59	5.59	0.84812	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94368	0.7593	10	0.87932	D	0	-11.3191	15.7557	0.78021	0.0:0.0:0.0:1.0	.	63	P09172	DOPO_HUMAN	R	63;49;49	ENSP00000376776:W63R;ENSP00000263611:W49R	ENSP00000263611:W49R	W	+	1	0	DBH	135491501	1.000000	0.71417	0.980000	0.43619	0.347000	0.29111	7.575000	0.82447	2.135000	0.66039	0.459000	0.35465	TGG		0.652	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		3	14	0	0	0	0.009096	0	3	14				
COL5A1	1289	broad.mit.edu	37	9	137660255	137660255	+	Splice_Site	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:137660255G>T	ENST00000371817.3	+	25	2646		c.e25-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTTTGTTCTAGGGTCCCTTGG	0.597																																							uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.e25-1		alpha 1 type V collagen preproprotein							147.0	154.0	152.0					9																	137660255		2203	4300	6503	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137660255G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2233-1G>T	9.37:g.137660255G>T							p.G745_splice	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	25	2615	+		Myeloproliferative disorder(178;0.0341)						Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.2233_splice	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681358	0.68042	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5593	0.56271	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136800076	1.000000	0.71417	0.977000	0.42913	0.955000	0.61496	6.429000	0.73387	2.027000	0.59764	0.561000	0.74099	.		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron	24	45	1	0	1.64293e-13	0.00333	2.7436e-13	24	45				
FCN2	2220	broad.mit.edu	37	9	137779182	137779182	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:137779182C>G	ENST00000291744.6	+	8	873	c.863C>G	c.(862-864)gCa>gGa	p.A288G	FCN2_ENST00000350339.2_Missense_Mutation_p.A250G	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	288	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGCAGCTTTGCAAATGGCATC	0.517																																							uc004cfg.1		NA																	0				large_intestine(1)	1						c.(862-864)GCA>GGA		ficolin 2 isoform a precursor							79.0	78.0	78.0					9																	137779182		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137779182C>G	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.863C>G	9.37:g.137779182C>G	ENSP00000291744:p.Ala288Gly					FCN2_uc004cfh.1_Missense_Mutation_p.A250G	p.A288G	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	8	873	+		Myeloproliferative disorder(178;0.0333)	288			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.863C>G	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222881	0.58668	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.77098	-1.07;-1.07	4.05	3.13	0.36017	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.167338	0.27966	N	0.017138	T	0.69922	0.3165	L	0.39326	1.205	0.09310	N	1	B;B	0.17268	0.003;0.021	B;B	0.28638	0.012;0.092	T	0.61662	-0.7017	10	0.48119	T	0.1	.	10.7075	0.45962	0.1928:0.8072:0.0:0.0	.	250;288	Q15485-2;Q15485	.;FCN2_HUMAN	G	250;288	ENSP00000291741:A250G;ENSP00000291744:A288G	ENSP00000291744:A288G	A	+	2	0	FCN2	136919003	0.981000	0.34729	0.001000	0.08648	0.738000	0.42128	3.035000	0.49759	0.661000	0.30985	0.563000	0.77884	GCA		0.517	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		11	30	0	0	0	0.008291	0	11	30				
ABCA2	20	broad.mit.edu	37	9	139911094	139911094	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:139911094C>A	ENST00000371605.3	-	19	2999	c.2852G>T	c.(2851-2853)tGg>tTg	p.W951L	ABCA2_ENST00000341511.6_Missense_Mutation_p.W952L|ABCA2_ENST00000265662.5_Missense_Mutation_p.W952L|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	951					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGTGCGTGCCCACGGCCAGCT	0.672																																							uc011mem.1		NA																	0					0						c.(2851-2853)TGG>TTG		ATP-binding cassette, sub-family A, member 2							21.0	27.0	25.0					9																	139911094		2065	4172	6237	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139911094C>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2852G>T	9.37:g.139911094C>A	ENSP00000360666:p.Trp951Leu					ABCA2_uc011mel.1_Missense_Mutation_p.W952L|ABCA2_uc004ckl.1_Missense_Mutation_p.W882L|ABCA2_uc004ckm.1_Missense_Mutation_p.W982L|ABCA2_uc004ckn.1_RNA	p.W951L	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	19	3000	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	951					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2852G>T		.	.	.	.	.	.	.	.	.	.	c	11.07	1.532079	0.27387	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.86097	-2.07;-2.07;-2.07	3.71	3.71	0.42584	.	1.466420	0.03601	N	0.233422	T	0.79052	0.4381	N	0.17082	0.46	0.58432	D	0.999994	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43956	-0.9359	10	0.26408	T	0.33	.	15.627	0.76867	0.0:1.0:0.0:0.0	.	951;982	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	L	952;951;982;952	ENSP00000265662:W952L;ENSP00000360666:W951L;ENSP00000344155:W952L	ENSP00000265662:W952L	W	-	2	0	ABCA2	139030915	1.000000	0.71417	0.685000	0.30070	0.889000	0.51656	2.156000	0.42310	1.898000	0.54952	0.306000	0.20318	TGG		0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		8	23	1	0	0.000157383	0.00308	0.000182879	8	23				
EHMT1	79813	broad.mit.edu	37	9	140671225	140671225	+	Silent	SNP	G	G	A	rs139206060	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:140671225G>A	ENST00000460843.1	+	12	1974	c.1947G>A	c.(1945-1947)tcG>tcA	p.S649S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.S649S|EHMT1_ENST00000334856.6_Silent_p.S618S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	649					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACACCACCTCGACCGTGACAC	0.627													G|||	3	0.000599042	0.0008	0.0	5008	,	,		16332	0.0		0.0	False		,,,				2504	0.002						uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(1945-1947)TCG>TCA		euchromatic histone-lysine N-methyltransferase 1		G	,	3,4403	8.1+/-20.4	0,3,2200	106.0	90.0	95.0		1947,1947	-1.4	0.6	9	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EHMT1	NM_001145527.1,NM_024757.4	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	649/809,649/1299	140671225	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140671225G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1947G>A	9.37:g.140671225G>A						EHMT1_uc004coa.2_Silent_p.S649S|EHMT1_uc004cob.1_Silent_p.S618S	p.S649S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	12	1984	+	all_cancers(76;0.164)		649					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.1947G>A	CCDS7050.2																																																																																				0.627	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		8	34	0	0	0	0.00308	0	8	34				
MXRA5	25878	broad.mit.edu	37	X	3241306	3241306	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:3241306G>A	ENST00000217939.6	-	5	2574	c.2420C>T	c.(2419-2421)aCc>aTc	p.T807I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	807						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGACTTGTGGTTTTAATCAA	0.478																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2419-2421)ACC>ATC		adlican precursor							153.0	149.0	150.0					X																	3241306		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241306G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2420C>T	X.37:g.3241306G>A	ENSP00000217939:p.Thr807Ile						p.T807I	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	2577	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	807					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2420C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	9.899	1.206391	0.22205	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67865	-0.29	3.63	2.76	0.32466	.	0.355912	0.19988	U	0.101640	T	0.40546	0.1121	N	0.08118	0	0.09310	N	1	P	0.40875	0.731	B	0.31390	0.129	T	0.25882	-1.0119	10	0.59425	D	0.04	.	10.792	0.46438	0.0976:0.0:0.9023:0.0	.	807	Q9NR99	MXRA5_HUMAN	I	807	ENSP00000217939:T807I	ENSP00000217939:T807I	T	-	2	0	MXRA5	3251306	0.071000	0.21146	0.004000	0.12327	0.077000	0.17291	0.335000	0.19806	0.420000	0.25954	0.529000	0.55759	ACC		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	33	0	0	0	0.012319	0	20	33				
CLCN4	1183	broad.mit.edu	37	X	10176261	10176261	+	Silent	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:10176261C>G	ENST00000380833.4	+	9	1411	c.1020C>G	c.(1018-1020)gtC>gtG	p.V340V	CLCN4_ENST00000421085.2_Silent_p.V246V|CLCN4_ENST00000380829.1_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	340					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTTGGGGTCTTCGGGGGCT	0.577																																					Melanoma(74;1050 1296 1576 30544 38374)	Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1018-1020)GTC>GTG		chloride channel 4							121.0	118.0	119.0					X																	10176261		2203	4300	6503	SO:0001819	synonymous_variant	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176261C>G	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1020C>G	X.37:g.10176261C>G						CLCN4_uc011mid.1_Silent_p.V246V	p.V340V	NM_001830	NP_001821	P51793	CLCN4_HUMAN			9	1450	+			340			Helical; (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	c.1020C>G	CCDS14137.1																																																																																				0.577	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			48	62	0	0	0	0.00361	0	48	62				
GRPR	2925	broad.mit.edu	37	X	16170424	16170424	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:16170424G>T	ENST00000380289.2	+	3	1209	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	271					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGTGTTTGTGGGCCTGTTCGC	0.532																																							uc004cxj.2		NA																	0				ovary(3)|lung(1)	4						c.(811-813)GGC>TGC		gastrin-releasing peptide receptor							136.0	116.0	123.0					X																	16170424		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170424G>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.811G>T	X.37:g.16170424G>T	ENSP00000369643:p.Gly271Cys						p.G271C	NM_005314	NP_005305	P30550	GRPR_HUMAN			3	1464	+	Hepatocellular(33;0.183)		271			Helical; Name=6; (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.811G>T	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220296	0.39201	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.38077	1.16	5.47	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.338132	0.34314	N	0.004066	T	0.36663	0.0975	M	0.74881	2.28	0.44175	D	0.996984	B	0.15473	0.013	B	0.17722	0.019	T	0.17289	-1.0374	10	0.54805	T	0.06	-5.3212	7.3649	0.26768	0.0831:0.0:0.6034:0.3135	.	271	P30550	GRPR_HUMAN	C	271;60	ENSP00000369643:G271C	ENSP00000369643:G271C	G	+	1	0	GRPR	16080345	1.000000	0.71417	0.970000	0.41538	0.918000	0.54935	4.288000	0.59007	0.470000	0.27294	0.600000	0.82982	GGC		0.532	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		40	39	1	0	1.96642e-18	0.006999	3.55251e-18	40	39				
BEND2	139105	broad.mit.edu	37	X	18189297	18189297	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:18189297A>T	ENST00000380033.4	-	13	2141	c.2009T>A	c.(2008-2010)aTa>aAa	p.I670K	BEND2_ENST00000380030.3_Missense_Mutation_p.I579K	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	670	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGGCATCCGTATATTTCTCCA	0.363																																							uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2008-2010)ATA>AAA		BEN domain containing 2							98.0	86.0	90.0					X																	18189297		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18189297A>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2009T>A	X.37:g.18189297A>T	ENSP00000369372:p.Ile670Lys					BEND2_uc010nfb.2_Missense_Mutation_p.I579K	p.I670K	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			13	2163	-			670			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2009T>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534971	0.64972	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.32753	1.44;1.46	5.49	5.49	0.81192	BEN domain (1);	0.374423	0.23208	N	0.050708	T	0.46014	0.1371	L	0.44542	1.39	0.24949	N	0.991809	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	T	0.38802	-0.9644	10	0.87932	D	0	-11.6528	12.3909	0.55358	1.0:0.0:0.0:0.0	.	579;670	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	K	670;579	ENSP00000369372:I670K;ENSP00000369369:I579K	ENSP00000369369:I579K	I	-	2	0	BEND2	18099218	0.691000	0.27709	0.007000	0.13788	0.106000	0.19336	5.728000	0.68531	1.831000	0.53308	0.451000	0.29950	ATA		0.363	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		14	54	0	0	0	0.001855	0	14	54				
SCML2	10389	broad.mit.edu	37	X	18276333	18276333	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:18276333G>A	ENST00000251900.4	-	10	1263	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	SCML2_ENST00000398048.3_Silent_p.G104G	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	368					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCAGATGAGGGCCAAAGTTTC	0.463																																					Esophageal Squamous(100;1252 1965 19021 35517)	Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2		NA																	0					0						c.(1102-1104)GGC>GGT		sex comb on midleg-like 2							93.0	89.0	90.0					X																	18276333		2203	4300	6503	SO:0001819	synonymous_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18276333G>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1104C>T	X.37:g.18276333G>A						SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.G368G|SCML2_uc011miz.1_Silent_p.G302G|SCML2_uc010nfc.2_Silent_p.G104G	p.G368G	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			10	1261	-	Hepatocellular(33;0.183)		368					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	c.1104C>T	CCDS14185.1																																																																																				0.463	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		16	53	0	0	0	0.003163	0	16	53				
MAGEB18	286514	broad.mit.edu	37	X	26157881	26157881	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:26157881C>A	ENST00000325250.1	+	2	966	c.779C>A	c.(778-780)cCc>cAc	p.P260H		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	260	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGCAAGTGCCCAACAGTGAT	0.488																																							uc004dbq.1		NA																	0				central_nervous_system(1)	1						c.(778-780)CCC>CAC		melanoma antigen family B, 18							86.0	72.0	77.0					X																	26157881		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157881C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.779C>A	X.37:g.26157881C>A	ENSP00000314543:p.Pro260His						p.P260H	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	966	+			260			MAGE.			Missense_Mutation	SNP	ENST00000325250.1	37	c.779C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059296	0.19987	.	.	ENSG00000176774	ENST00000325250	T	0.06294	3.32	4.56	2.67	0.31697	.	0.236610	0.43747	D	0.000527	T	0.27134	0.0665	M	0.94063	3.49	0.09310	N	0.999997	D	0.89917	1.0	D	0.77557	0.99	T	0.13495	-1.0507	10	0.87932	D	0	.	4.7409	0.13012	0.0:0.6592:0.2124:0.1284	.	260	Q96M61	MAGBI_HUMAN	H	260	ENSP00000314543:P260H	ENSP00000314543:P260H	P	+	2	0	MAGEB18	26067802	0.025000	0.19082	0.266000	0.24541	0.031000	0.12232	1.230000	0.32612	0.569000	0.29329	0.600000	0.82982	CCC		0.488	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		11	30	1	0	1.08611e-07	0.010729	1.49384e-07	11	30				
MAGEB4	4115	broad.mit.edu	37	X	30261205	30261205	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:30261205G>A	ENST00000378982.2	+	1	1149	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	318										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCTGGAGCCCGGCCCAGAGTT	0.532																																							uc004dcb.2		NA																	0				ovary(1)	1						c.(952-954)CGG>CAG		melanoma antigen family B, 4							46.0	44.0	45.0					X																	30261205		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261205G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.953G>A	X.37:g.30261205G>A	ENSP00000368266:p.Arg318Gln					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.R318Q	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	1037	+			318					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.953G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	9.091	1.001740	0.19121	.	.	ENSG00000120289	ENST00000378982	T	0.01887	4.58	1.96	-3.92	0.04155	.	12.712200	0.00879	U	0.002114	T	0.04407	0.0121	M	0.83223	2.63	0.09310	N	1	B	0.25007	0.116	B	0.09377	0.004	T	0.35251	-0.9796	10	0.38643	T	0.18	.	5.4598	0.16610	0.6399:0.1695:0.1906:0.0	.	318	O15481	MAGB4_HUMAN	Q	318	ENSP00000368266:R318Q	ENSP00000368266:R318Q	R	+	2	0	MAGEB4	30171126	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.506000	0.06359	-1.908000	0.01086	-0.698000	0.03680	CGG		0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		12	17	0	0	0	0.010729	0	12	17				
FAM47B	170062	broad.mit.edu	37	X	34961513	34961513	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:34961513C>A	ENST00000329357.5	+	1	601	c.565C>A	c.(565-567)Ccg>Acg	p.P189T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	189	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAATCCTGCCCGCGGCCTCC	0.647																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(565-567)CCG>ACG		hypothetical protein LOC170062							26.0	29.0	28.0					X																	34961513		2202	4294	6496	SO:0001583	missense	170062							g.chrX:34961513C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.565C>A	X.37:g.34961513C>A	ENSP00000328307:p.Pro189Thr						p.P189T	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	583	+			189			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.565C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	1.013	-0.687197	0.03328	.	.	ENSG00000189132	ENST00000329357	T	0.22539	1.95	0.602	0.602	0.17535	.	.	.	.	.	T	0.20210	0.0486	M	0.71581	2.175	0.09310	N	1	B	0.30146	0.27	B	0.26693	0.072	T	0.17868	-1.0355	9	0.32370	T	0.25	.	6.8182	0.23843	0.0:0.9999:0.0:1.0E-4	.	189	Q8NA70	FA47B_HUMAN	T	189	ENSP00000328307:P189T	ENSP00000328307:P189T	P	+	1	0	FAM47B	34871434	0.879000	0.30193	0.002000	0.10522	0.018000	0.09664	2.317000	0.43770	0.543000	0.28864	0.292000	0.19580	CCG		0.647	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		11	19	1	0	1.58986e-06	0.008291	2.08065e-06	11	19				
FAM47B	170062	broad.mit.edu	37	X	34962866	34962866	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:34962866G>T	ENST00000329357.5	+	1	1954	c.1918G>T	c.(1918-1920)Gat>Tat	p.D640Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	640										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGACGTCACAGATGCATCAAA	0.383																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(1918-1920)GAT>TAT		hypothetical protein LOC170062							106.0	95.0	99.0					X																	34962866		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962866G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1918G>T	X.37:g.34962866G>T	ENSP00000328307:p.Asp640Tyr						p.D640Y	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1936	+			640					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1918G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	8.702	0.910030	0.17833	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.664	0.664	0.17890	.	.	.	.	.	T	0.39118	0.1066	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	D	0.65874	0.939	T	0.11743	-1.0575	8	0.87932	D	0	.	.	.	.	.	640	Q8NA70	FA47B_HUMAN	Y	640	ENSP00000328307:D640Y	ENSP00000328307:D640Y	D	+	1	0	FAM47B	34872787	0.007000	0.16637	0.013000	0.15412	0.024000	0.10985	0.362000	0.20284	0.580000	0.29522	0.292000	0.19580	GAT		0.383	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		25	24	1	0	9.86323e-18	0.003954	1.77434e-17	25	24				
CXorf22	170063	broad.mit.edu	37	X	35971832	35971832	+	Missense_Mutation	SNP	C	C	G	rs137975595	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:35971832C>G	ENST00000297866.5	+	7	1236	c.1170C>G	c.(1168-1170)atC>atG	p.I390M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	390										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATAAAACCATCAAAAGTAAGT	0.294													C|||	1	0.000264901	0.0	0.0	3775	,	,		11666	0.0		0.001	False		,,,				2504	0.0						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1168-1170)ATC>ATG		hypothetical protein LOC170063		C	MET/ILE	0,3833		0,0,0,1631,571	59.0	55.0	56.0		1170	1.2	0.2	X	dbSNP_134	56	3,6722		0,2,1,2426,1868	yes	missense	CXorf22	NM_152632.3	10	0,2,1,4057,2439	GG,GC,G,CC,C		0.0446,0.0,0.0284	benign	390/977	35971832	3,10555	2202	4297	6499	SO:0001583	missense	170063							g.chrX:35971832C>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1170C>G	X.37:g.35971832C>G	ENSP00000297866:p.Ile390Met					CXorf22_uc010ngv.2_RNA	p.I390M	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			7	1229	+			390					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1170C>G	CCDS14237.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	1.879	-0.458287	0.04508	0.0	4.46E-4	ENSG00000165164	ENST00000297866	T	0.54279	0.58	5.69	1.24	0.21308	.	1.499850	0.03352	N	0.196383	T	0.42426	0.1202	L	0.36672	1.1	0.09310	N	1	B	0.24920	0.114	B	0.17979	0.02	T	0.17410	-1.0370	10	0.30854	T	0.27	0.0756	6.5288	0.22316	0.0:0.5312:0.2247:0.2441	.	390	Q6ZTR5	CX022_HUMAN	M	390	ENSP00000297866:I390M	ENSP00000297866:I390M	I	+	3	3	CXorf22	35881753	0.005000	0.15991	0.202000	0.23494	0.326000	0.28443	-0.062000	0.11674	0.168000	0.19655	-0.269000	0.10298	ATC		0.294	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		5	13	0	0	0	0.000602	0	5	13				
CXorf22	170063	broad.mit.edu	37	X	36007542	36007542	+	Silent	SNP	G	G	T	rs191671988		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:36007542G>T	ENST00000297866.5	+	16	2886	c.2820G>T	c.(2818-2820)gcG>gcT	p.A940A		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	940										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAGGAAACGCGTTGAAGCTAA	0.373																																							uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2818-2820)GCG>GCT		hypothetical protein LOC170063							148.0	119.0	129.0					X																	36007542		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:36007542G>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2820G>T	X.37:g.36007542G>T						CXorf22_uc010ngv.2_RNA	p.A940A	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			16	2879	+			940					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.2820G>T	CCDS14237.2																																																																																				0.373	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		8	14	1	0	1.12685e-05	0.004482	1.40753e-05	8	14				
ZNF157	7712	broad.mit.edu	37	X	47269737	47269737	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:47269737C>A	ENST00000377073.3	+	2	221	c.135C>A	c.(133-135)gaC>gaA	p.D45E		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACAGACTGGACCCTGCTCAGA	0.527																																							uc004dhr.1		NA																	0					0						c.(133-135)GAC>GAA		zinc finger protein 157							180.0	128.0	146.0					X																	47269737		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47269737C>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.135C>A	X.37:g.47269737C>A	ENSP00000366273:p.Asp45Glu						p.D45E	NM_003446	NP_003437	P51786	ZN157_HUMAN			2	204	+			45			KRAB.		Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.135C>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114688	0.37339	.	.	ENSG00000147117	ENST00000377073	T	0.02606	4.23	2.9	-3.51	0.04696	Krueppel-associated box (4);	.	.	.	.	T	0.09069	0.0224	M	0.65677	2.01	0.09310	N	1	D	0.65815	0.995	P	0.62382	0.901	T	0.01413	-1.1361	9	0.54805	T	0.06	.	9.7402	0.40413	0.0:0.4478:0.0:0.5522	.	45	P51786	ZN157_HUMAN	E	45	ENSP00000366273:D45E	ENSP00000366273:D45E	D	+	3	2	ZNF157	47154681	0.000000	0.05858	0.027000	0.17364	0.971000	0.66376	-0.691000	0.05133	-1.228000	0.02568	-0.448000	0.05591	GAC		0.527	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		24	42	1	0	5.35356e-11	0.00278	8.33429e-11	24	42				
ZNF41	7592	broad.mit.edu	37	X	47308150	47308150	+	Nonsense_Mutation	SNP	G	G	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:47308150G>C	ENST00000377065.4	-	5	1658	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.S340*|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.S350*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AATGAGGTTTGATTTGAGGGT	0.413																																							uc004dhs.3		NA																	0				ovary(3)	3						c.(1144-1146)TCA>TGA		zinc finger protein 41							59.0	61.0	60.0					X																	47308150		2202	4297	6499	SO:0001587	stop_gained	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308150G>C	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1019C>G	X.37:g.47308150G>C	ENSP00000366265:p.Ser340*					ZNF41_uc004dhu.3_Nonsense_Mutation_p.S374*|ZNF41_uc004dht.3_Nonsense_Mutation_p.S254*|ZNF41_uc004dhv.3_Nonsense_Mutation_p.S350*|ZNF41_uc004dhw.3_Nonsense_Mutation_p.S342*|ZNF41_uc004dhy.3_Nonsense_Mutation_p.S340*|ZNF41_uc004dhx.3_Nonsense_Mutation_p.S340*|ZNF41_uc011mlm.1_Nonsense_Mutation_p.S254*	p.S382*	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1212	-		all_lung(315;0.000129)	382			C2H2-type 3.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Nonsense_Mutation	SNP	ENST00000377065.4	37	c.1145C>G	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786799	0.70337	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	.	.	.	3.68	1.8	0.24995	.	0.000000	0.29501	N	0.011978	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6924	0.17837	0.0:0.1906:0.4152:0.3942	.	.	.	.	X	340;340;350	.	ENSP00000315173:S340X	S	-	2	0	ZNF41	47193094	0.005000	0.15991	0.003000	0.11579	0.137000	0.21094	1.264000	0.33015	0.342000	0.23796	0.594000	0.82650	TCA		0.413	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		23	53	0	0	0	0.00278	0	23	53				
ARAF	369	broad.mit.edu	37	X	47424443	47424443	+	Silent	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:47424443T>C	ENST00000377045.4	+	5	557	c.363T>C	c.(361-363)caT>caC	p.H121H	ARAF_ENST00000377039.2_Silent_p.H121H|ARAF_ENST00000290277.6_Silent_p.H121H	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	121					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTCTGTTCCATGGCTTCCGTT	0.522																																							uc011mlq.1		NA																	0				large_intestine(3)|lung(2)|ovary(1)|skin(1)	7						c.(361-363)CAT>CAC		v-raf murine sarcoma 3611 viral oncogene	Adenosine triphosphate(DB00171)						169.0	125.0	140.0					X																	47424443		2203	4300	6503	SO:0001819	synonymous_variant	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47424443T>C	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.363T>C	X.37:g.47424443T>C						ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Missense_Mutation_p.M1T|ARAF_uc011mlp.1_Silent_p.H121H|ARAF_uc004dic.1_5'Flank	p.H121H	NM_001654	NP_001645	P10398	ARAF_HUMAN			5	496	+			121			Phorbol-ester/DAG-type.		P07557|Q5H9B2|Q5H9B3	Silent	SNP	ENST00000377045.4	37	c.363T>C	CCDS35232.1																																																																																				0.522	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			14	47	0	0	0	0.00499	0	14	47				
FAM120C	54954	broad.mit.edu	37	X	54161386	54161386	+	Silent	SNP	G	G	A	rs377417670		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:54161386G>A	ENST00000375180.2	-	7	1550	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	FAM120C_ENST00000328235.4_Silent_p.S498S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	498							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGAGTCATAGGAGACAGCCC	0.512																																							uc004dsz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1492-1494)TCC>TCT		hypothetical protein LOC54954							84.0	71.0	75.0					X																	54161386		2203	4300	6503	SO:0001819	synonymous_variant	54954							g.chrX:54161386G>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1494C>T	X.37:g.54161386G>A						FAM120C_uc011moh.1_Silent_p.S498S	p.S498S	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			7	1577	-			498					B2RMT7	Silent	SNP	ENST00000375180.2	37	c.1494C>T	CCDS14356.1																																																																																				0.512	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		4	11	0	0	0	0.009096	0	4	11				
SLC16A2	6567	broad.mit.edu	37	X	73641730	73641730	+	Silent	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:73641730C>A	ENST00000587091.1	+	1	435	c.258C>A	c.(256-258)cgC>cgA	p.R86R	SLC16A2_ENST00000276033.5_Silent_p.R160R	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	86					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TAGAGACCCGCGGCACCGCGC	0.697																																							uc004ebt.2		NA																	0				breast(2)|ovary(1)	3						c.(478-480)CGC>CGA		solute carrier family 16, member 2	Pyruvic acid(DB00119)						13.0	14.0	14.0					X																	73641730		2187	4270	6457	SO:0001819	synonymous_variant	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73641730C>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.258C>A	X.37:g.73641730C>A							p.R160R	NM_006517	NP_006508	P36021	MOT8_HUMAN			1	646	+			86			Cytoplasmic (Potential).		Q7Z797	Silent	SNP	ENST00000587091.1	37	c.480C>A	CCDS14426.2																																																																																				0.697	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			11	14	1	0	6.40141e-05	0.010729	7.65288e-05	11	14				
KIAA2022	340533	broad.mit.edu	37	X	73961331	73961331	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:73961331C>T	ENST00000055682.6	-	3	3672	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1021					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGTGATATCATCATCGCCA	0.478																																							uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3061-3063)GAT>AAT		hypothetical protein LOC340533							78.0	72.0	74.0					X																	73961331		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961331C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3061G>A	X.37:g.73961331C>T	ENSP00000055682:p.Asp1021Asn						p.D1021N	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3678	-			1021					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3061G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662536	0.88251	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.37058	1.22;1.22	5.58	5.58	0.84498	.	0.151648	0.64402	D	0.000016	T	0.47002	0.1422	L	0.40543	1.245	0.52501	D	0.999957	D	0.55800	0.973	P	0.54270	0.747	T	0.45760	-0.9239	10	0.72032	D	0.01	-6.1026	18.6356	0.91378	0.0:1.0:0.0:0.0	.	1021	Q5QGS0	K2022_HUMAN	N	1021	ENSP00000362567:D1021N;ENSP00000055682:D1021N	ENSP00000055682:D1021N	D	-	1	0	KIAA2022	73878056	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.487000	0.81328	2.344000	0.79699	0.600000	0.82982	GAT		0.478	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		18	49	0	0	0	0.007413	0	18	49				
ZDHHC15	158866	broad.mit.edu	37	X	74644564	74644564	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:74644564G>T	ENST00000373367.3	-	8	889	c.659C>A	c.(658-660)gCc>gAc	p.A220D	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.P180T|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.A211D	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	220					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AAACATGCAGGCCACAAAGAG	0.383																																							uc004ecg.2		NA																	0				ovary(2)	2						c.(658-660)GCC>GAC		zinc finger, DHHC-type containing 15 isoform 1							85.0	64.0	71.0					X																	74644564		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74644564G>T	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.659C>A	X.37:g.74644564G>T	ENSP00000362465:p.Ala220Asp					ZDHHC15_uc004ech.2_Missense_Mutation_p.A211D|ZDHHC15_uc011mqo.1_RNA	p.A220D	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			8	1137	-			220			Helical; (Potential).		B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.659C>A	CCDS14430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589443|3.589443	0.66105|0.66105	.|.	.|.	ENSG00000102383|ENSG00000102383	ENST00000373367;ENST00000541184|ENST00000373361	T;T|T	0.25912|0.56275	1.77;1.77|0.47	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.090906|.	0.85682|.	D|.	0.000000|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.85710|0.85710	2.77|2.77	0.38920|0.38920	D|D	0.957722|0.957722	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.80764|.	0.987;0.994|.	T|T	0.80308|0.80308	-0.1437|-0.1437	10|7	0.54805|0.72032	T|D	0.06|0.01	-27.6021|-27.6021	17.9971|17.9971	0.89187|0.89187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	211;220|.	B3KVG7;Q96MV8|.	.;ZDH15_HUMAN|.	D|T	220;211|180	ENSP00000362465:A220D;ENSP00000445420:A211D|ENSP00000362459:P180T	ENSP00000362465:A220D|ENSP00000362459:P180T	A|P	-|-	2|1	0|0	ZDHHC15|ZDHHC15	74561289|74561289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.257000|9.257000	0.95545|0.95545	2.471000|2.471000	0.83476|0.83476	0.600000|0.600000	0.82982|0.82982	GCC|CCT		0.383	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		4	4	1	0	0.00909568	0.009096	0.00964006	4	4				
ATRX	546	broad.mit.edu	37	X	76939494	76939494	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:76939494T>A	ENST00000373344.5	-	9	1468	c.1254A>T	c.(1252-1254)cgA>cgT	p.R418R	ATRX_ENST00000395603.3_Silent_p.R380R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	418					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CATCCATCGCTCGAAACTCGG	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(1252-1254)CGA>CGT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						162.0	160.0	160.0					X																	76939494		2203	4295	6498	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939494T>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1254A>T	X.37:g.76939494T>A						ATRX_uc004ecq.3_Silent_p.R380R|ATRX_uc004eco.3_Silent_p.R203R|ATRX_uc004ecr.2_Silent_p.R379R|ATRX_uc010nlx.1_Silent_p.R418R|ATRX_uc010nly.1_Silent_p.R363R	p.R418R	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	1486	-			418					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1254A>T	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		59	87	0	0	0	0.00361	0	59	87				
ZCCHC5	203430	broad.mit.edu	37	X	77913726	77913726	+	Silent	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:77913726G>T	ENST00000321110.1	-	2	487	c.192C>A	c.(190-192)ctC>ctA	p.L64L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	64	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGTGCTCTGGGAGCTTCTGGG	0.587																																							uc004edc.1		NA																	0				ovary(1)	1						c.(190-192)CTC>CTA		zinc finger, CCHC domain containing 5							28.0	27.0	27.0					X																	77913726		2203	4300	6503	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77913726G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.192C>A	X.37:g.77913726G>T							p.L64L	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	488	-			64			Pro-rich.		B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.192C>A	CCDS14440.1																																																																																				0.587	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		6	15	1	0	8.12818e-05	0.001984	9.60912e-05	6	15				
BRWD3	254065	broad.mit.edu	37	X	79999660	79999660	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:79999660C>A	ENST00000373275.4	-	8	900	c.684G>T	c.(682-684)atG>atT	p.M228I		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	228					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTTAACAGCCATGTCAGAAA	0.438																																							uc004edt.2		NA																	0				ovary(4)	4						c.(682-684)ATG>ATT		bromodomain and WD repeat domain containing 3							129.0	112.0	118.0					X																	79999660		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999660C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.684G>T	X.37:g.79999660C>A	ENSP00000362372:p.Met228Ile					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.M57I|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.M228I	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	947	-			228			WD 3.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.684G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645138	0.47258	.	.	ENSG00000165288	ENST00000373275	T	0.55234	0.53	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.095448	0.64402	D	0.000002	T	0.31167	0.0788	N	0.03930	-0.32	0.54753	D	0.999987	B	0.28128	0.201	B	0.31390	0.129	T	0.15954	-1.0419	9	.	.	.	-11.5585	16.6562	0.85229	0.0:1.0:0.0:0.0	.	228	Q6RI45	BRWD3_HUMAN	I	228	ENSP00000362372:M228I	.	M	-	3	0	BRWD3	79886316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.193000	0.70182	0.415000	0.27848	ATG		0.438	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		18	32	1	0	1.45105e-14	0.006122	2.49928e-14	18	32				
VDAC1	7416	broad.mit.edu	37	X	80185344	80185344	+	IGR	SNP	A	A	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:80185344A>T								RNU6-493P (28981 upstream) : RNU6-995P (6588 downstream)																							AAATCAAGACAGGGTACAAGC	0.507																																							uc004eec.1		NA																	0					NA						c.(241-243)ACA>ACT		SubName: Full=cDNA FLJ16670 fis, clone THYMU3001133, highly similar to Voltage-dependent anion-selective channel protein 1; SubName: Full=Voltage-dependent anion channel 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	0							g.chrX:80185344A>T																													X.37:g.80185344A>T							p.T81T							1	417	+									Silent	SNP		37	c.243A>T																																																																																				0	0.507									5	35	0	0	0	0.000602	0	5	35				
VDAC1	7416	broad.mit.edu	37	X	80185699	80185699	+	IGR	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:80185699G>T								RNU6-493P (29336 upstream) : RNU6-995P (6233 downstream)																							CTGCTTCTCGGCTAAAGTGAA	0.498																																							uc004eec.1		NA																	0					NA						c.(598-600)GCT>TCT		SubName: Full=cDNA FLJ16670 fis, clone THYMU3001133, highly similar to Voltage-dependent anion-selective channel protein 1; SubName: Full=Voltage-dependent anion channel 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	0							g.chrX:80185699G>T																													X.37:g.80185699G>T							p.A200S							1	772	+									Missense_Mutation	SNP		37	c.598G>T																																																																																				0	0.498									20	43	1	0	3.51602e-12	0.008871	5.67099e-12	20	43				
SATL1	340562	broad.mit.edu	37	X	84349161	84349161	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:84349161C>A	ENST00000395409.3	-	4	1848	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	SATL1_ENST00000509231.1_Missense_Mutation_p.D617Y|SATL1_ENST00000332921.5_Missense_Mutation_p.D430Y			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	430	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACATAAAAGTCCTCTAGGTAA	0.353																																							uc011mqx.1		NA																	0				breast(2)	2						c.(1849-1851)GAC>TAC		spermidine/spermine N1-acetyl transferase-like 1							112.0	94.0	100.0					X																	84349161		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84349161C>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1288G>T	X.37:g.84349161C>A	ENSP00000378804:p.Asp430Tyr					SATL1_uc004een.2_Missense_Mutation_p.D617Y	p.D617Y	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			4	1849	-			430			N-acetyltransferase.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1849G>T		.	.	.	.	.	.	.	.	.	.	C	19.52	3.842343	0.71488	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.49720	1.91;0.77;0.77	5.14	5.14	0.70334	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.33023	N	0.005372	T	0.74733	0.3755	M	0.92077	3.27	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81247	-0.1019	10	0.87932	D	0	-39.339	13.278	0.60198	0.0:1.0:0.0:0.0	.	430;617	Q86VE3;E9PB72	SATL1_HUMAN;.	Y	430;430;617	ENSP00000378804:D430Y;ENSP00000329115:D430Y;ENSP00000425421:D617Y	ENSP00000329115:D430Y	D	-	1	0	SATL1	84235817	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.477000	0.66799	2.287000	0.76781	0.600000	0.82982	GAC		0.353	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		5	31	1	0	5.9392e-07	0.001168	7.92515e-07	5	31				
ZNF711	7552	broad.mit.edu	37	X	84520185	84520185	+	Silent	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:84520185T>A	ENST00000373165.3	+	6	1146	c.840T>A	c.(838-840)ctT>ctA	p.L280L	ZNF711_ENST00000395402.1_Silent_p.L258L|ZNF711_ENST00000542798.1_Silent_p.L76L|ZNF711_ENST00000360700.4_Silent_p.L280L|ZNF711_ENST00000276123.3_Silent_p.L280L	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	280					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CTGGAGTGCTTGACCAGAGCC	0.398																																							uc004eeo.2		NA																	0				ovary(3)|skin(1)	4						c.(838-840)CTT>CTA		zinc finger protein 711							86.0	80.0	82.0					X																	84520185		2203	4300	6503	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84520185T>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.840T>A	X.37:g.84520185T>A						ZNF711_uc004eep.2_Silent_p.L280L|ZNF711_uc004eeq.2_Silent_p.L280L|ZNF711_uc011mqy.1_5'UTR	p.L280L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			6	1187	+			280					B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.840T>A	CCDS35344.1																																																																																				0.398	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		4	20	0	0	0	0.000602	0	4	20				
POF1B	79983	broad.mit.edu	37	X	84585958	84585958	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:84585958C>A	ENST00000262753.4	-	7	996	c.851G>T	c.(850-852)gGa>gTa	p.G284V	POF1B_ENST00000373145.3_Missense_Mutation_p.G284V	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	284						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACAGTACCTTCCTCCAATTCT	0.358																																							uc004eer.2		NA																	0					0						c.(850-852)GGA>GTA		premature ovarian failure, 1B							88.0	79.0	82.0					X																	84585958		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84585958C>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.851G>T	X.37:g.84585958C>A	ENSP00000262753:p.Gly284Val					POF1B_uc004ees.2_Missense_Mutation_p.G284V	p.G284V	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			7	997	-			284					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.851G>T	CCDS14452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.292063|3.292063	0.59976|0.59976	.|.	.|.	ENSG00000124429|ENSG00000124429	ENST00000276124|ENST00000262753;ENST00000373145	.|T;T	.|0.25749	.|1.78;1.78	5.62|5.62	4.75|4.75	0.60458|0.60458	.|.	.|0.066244	.|0.64402	.|D	.|0.000012	.|T	.|0.39911	.|0.1096	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63046	.|0.992;0.992	.|P;P	.|0.58130	.|0.833;0.833	.|T	.|0.22382	.|-1.0218	.|10	.|0.72032	.|D	.|0.01	.|.	11.9804|11.9804	0.53117|0.53117	0.0:0.6737:0.3263:0.0|0.0:0.6737:0.3263:0.0	.|.	.|284;284	.|Q8WVV4-1;Q8WVV4	.|.;POF1B_HUMAN	.|V	-1|284	.|ENSP00000262753:G284V;ENSP00000362238:G284V	.|ENSP00000262753:G284V	.|G	-|-	.|2	.|0	POF1B|POF1B	84472614|84472614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.947000|2.947000	0.49058|0.49058	1.123000|1.123000	0.41961|0.41961	0.600000|0.600000	0.82982|0.82982	.|GGA		0.358	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		4	26	1	0	0.00909568	0.009096	0.00964006	4	26				
KLHL4	56062	broad.mit.edu	37	X	86880684	86880684	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:86880684G>A	ENST00000373119.4	+	6	1357	c.1212G>A	c.(1210-1212)atG>atA	p.M404I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M404I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	404						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGGAAGCTATGAAGTATCATC	0.443																																							uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1210-1212)ATG>ATA		kelch-like 4 isoform 1							100.0	85.0	90.0					X																	86880684		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86880684G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1212G>A	X.37:g.86880684G>A	ENSP00000362211:p.Met404Ile					KLHL4_uc004efa.2_Missense_Mutation_p.M404I	p.M404I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			6	1394	+			404					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1212G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733454	0.89482	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.73897	-0.79;-0.76	4.89	4.89	0.63831	Galactose oxidase, beta-propeller (1);	0.184523	0.56097	D	0.000026	D	0.82921	0.5142	M	0.76328	2.33	0.80722	D	1	P;D	0.55172	0.805;0.97	P;P	0.56700	0.459;0.804	D	0.84797	0.0782	10	0.52906	T	0.07	.	16.3502	0.83202	0.0:0.0:1.0:0.0	.	404;404	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	404	ENSP00000362211:M404I;ENSP00000362206:M404I	ENSP00000362206:M404I	M	+	3	0	KLHL4	86767340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.062000	0.93920	2.145000	0.66743	0.513000	0.50165	ATG		0.443	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			7	28	0	0	0	0.00308	0	7	28				
TGIF2LX	90316	broad.mit.edu	37	X	89177226	89177226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:89177226G>T	ENST00000561129.2	+	1	272	c.142G>T	c.(142-144)Gag>Tag	p.E48*	TGIF2LX_ENST00000283891.5_Nonsense_Mutation_p.E48*			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGCCTTACCAGAGCACAAGAA	0.517																																							uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(142-144)GAG>TAG		TGFB-induced factor homeobox 2-like, X-linked							25.0	26.0	26.0					X																	89177226		2201	4276	6477	SO:0001587	stop_gained	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177226G>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.142G>T	X.37:g.89177226G>T	ENSP00000453704:p.Glu48*						p.E48*	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	191	+			48			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Nonsense_Mutation	SNP	ENST00000561129.2	37	c.142G>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447026	0.43429	.	.	ENSG00000153779	ENST00000283891	.	.	.	2.34	0.464	0.16706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1565	4.8237	0.13405	0.1482:0.219:0.6328:0.0	.	.	.	.	X	48	.	.	E	+	1	0	TGIF2LX	89063882	0.089000	0.21612	0.000000	0.03702	0.003000	0.03518	2.256000	0.43231	0.017000	0.15025	-0.319000	0.08680	GAG		0.517	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		4	30	1	0	0.00909568	0.009096	0.00964006	4	30				
PCDH11X	27328	broad.mit.edu	37	X	91873836	91873836	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:91873836G>T	ENST00000373094.1	+	7	4786	c.3941G>T	c.(3940-3942)aGt>aTt	p.S1314I	PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1277I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1306I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1296I|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1304I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1277I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1314					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTCATCCCAGTGATGATTCA	0.483																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(3940-3942)AGT>ATT		protocadherin 11 X-linked isoform c							177.0	162.0	167.0					X																	91873836		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873836G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3941G>T	X.37:g.91873836G>T	ENSP00000362186:p.Ser1314Ile					PCDH11X_uc004efl.1_Missense_Mutation_p.S1304I|PCDH11X_uc004efo.1_Missense_Mutation_p.S1277I|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.S1306I|PCDH11X_uc004efn.1_Missense_Mutation_p.S1296I	p.S1314I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4786	+			1314			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3941G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866161	0.32977	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.57436	0.42;0.43;0.48;0.4;0.42;0.48	4.58	0.576	0.17380	.	.	.	.	.	T	0.36991	0.0987	N	0.19112	0.55	0.09310	N	1	P;P;P;P;P	0.44195	0.828;0.828;0.828;0.828;0.736	B;B;B;B;B	0.41988	0.372;0.372;0.372;0.372;0.205	T	0.21449	-1.0245	9	0.87932	D	0	.	8.5157	0.33244	0.4806:0.0:0.5194:0.0	.	1277;1296;1306;1304;1314	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	I	1314;1304;1277;1296;1306;1314;1277	ENSP00000362186:S1314I;ENSP00000362189:S1304I;ENSP00000362180:S1277I;ENSP00000355105:S1296I;ENSP00000384758:S1306I;ENSP00000298274:S1277I	ENSP00000298274:S1277I	S	+	2	0	PCDH11X	91760492	0.002000	0.14202	0.948000	0.38648	0.538000	0.34931	-0.076000	0.11412	0.091000	0.17302	0.466000	0.42574	AGT		0.483	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		15	101	1	0	2.98522e-18	0.003163	5.38733e-18	15	101				
ARL13A	392509	broad.mit.edu	37	X	100243431	100243431	+	Intron	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:100243431T>A	ENST00000450049.2	+	7	857					NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A						small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GATGAACCCATGAAAGAAGGT	0.398																																							uc004ego.2		NA																	0				ovary(1)	1						c.(808-810)ATG>AAG		ADP-ribosylation factor-like 13 isoform a							58.0	52.0	54.0					X																	100243431		1869	4094	5963	SO:0001627	intron_variant	392509						GTP binding	g.chrX:100243431T>A		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.744+159T>A	X.37:g.100243431T>A						ARL13A_uc011mrf.1_Missense_Mutation_p.M270K|ARL13A_uc010nng.2_Intron	p.M270K	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			8	925	+			270					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.809T>A	CCDS55463.1																																																																																				0.398	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		4	3	0	0	0	0.009096	0	4	3				
COL4A5	1287	broad.mit.edu	37	X	107929351	107929351	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:107929351G>T	ENST00000361603.2	+	46	4533	c.4289G>T	c.(4288-4290)gGa>gTa	p.G1430V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1436V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1430	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTCTGCCAGGACAGCCAGGT	0.547									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4306-4308)GGA>GTA		type IV collagen alpha 5 isoform 2 precursor							79.0	61.0	67.0					X																	107929351		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107929351G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4289G>T	X.37:g.107929351G>T	ENSP00000354505:p.Gly1430Val					COL4A5_uc011mso.1_Missense_Mutation_p.G1433V|COL4A5_uc011msp.1_Missense_Mutation_p.G112V	p.G1436V	NM_033380	NP_203699	P29400	CO4A5_HUMAN			47	4509	+			1430			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4307G>T	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.739880|4.739880	0.89573|0.89573	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	.|D;D	.|0.99637	.|-6.29;-6.29	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99829|0.99829	0.9923|0.9923	H|H	0.98664|0.98664	4.295|4.295	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96569|0.96569	0.9421|0.9421	5|10	.|0.87932	.|D	.|0	.|.	18.1848|18.1848	0.89789|0.89789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1433;1430	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	Y|V	35|1436;1430;1436	.|ENSP00000331902:G1436V;ENSP00000354505:G1430V	.|ENSP00000331902:G1436V	D|G	+|+	1|2	0|0	COL4A5|COL4A5	107816007|107816007	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.945000|0.945000	0.59286|0.59286	9.507000|9.507000	0.97996|0.97996	2.318000|2.318000	0.78349|0.78349	0.600000|0.600000	0.82982|0.82982	GAC|GGA		0.547	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			6	15	1	0	3.59834e-05	0.001168	4.39136e-05	6	15				
IRS4	8471	broad.mit.edu	37	X	107976275	107976275	+	Silent	SNP	G	G	A	rs373443693		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:107976275G>A	ENST00000372129.2	-	1	3376	c.3300C>T	c.(3298-3300)gtC>gtT	p.V1100V	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1100	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAAAAGCAGAGACAGCGGCTC	0.572																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3298-3300)GTC>GTT		insulin receptor substrate 4							88.0	90.0	89.0					X																	107976275		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976275G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3300C>T	X.37:g.107976275G>A							p.V1100V	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3333	-			1100			Ala-rich.			Silent	SNP	ENST00000372129.2	37	c.3300C>T	CCDS14544.1																																																																																				0.572	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	90	0	0	0	0.00245	0	8	90				
IRS4	8471	broad.mit.edu	37	X	107976299	107976299	+	Silent	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:107976299G>A	ENST00000372129.2	-	1	3352	c.3276C>T	c.(3274-3276)ttC>ttT	p.F1092F	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1092					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGCTGCAAAGAAACTTTGAG	0.582																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3274-3276)TTC>TTT		insulin receptor substrate 4							99.0	97.0	98.0					X																	107976299		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976299G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3276C>T	X.37:g.107976299G>A							p.F1092F	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3309	-			1092						Silent	SNP	ENST00000372129.2	37	c.3276C>T	CCDS14544.1																																																																																				0.582	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		5	84	0	0	0	0.00245	0	5	84				
IRS4	8471	broad.mit.edu	37	X	107976307	107976307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:107976307G>A	ENST00000372129.2	-	1	3344	c.3268C>T	c.(3268-3270)Caa>Taa	p.Q1090*	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1090					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAGAAACTTTGAGAACGGCTT	0.567																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3268-3270)CAA>TAA		insulin receptor substrate 4							101.0	99.0	99.0					X																	107976307		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976307G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3268C>T	X.37:g.107976307G>A	ENSP00000361202:p.Gln1090*						p.Q1090*	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3301	-			1090						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.3268C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	39	7.755266	0.98471	.	.	ENSG00000133124	ENST00000372129	.	.	.	5.38	3.51	0.40186	.	0.417257	0.25055	N	0.033483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.5548	13.3773	0.60747	0.0:0.5901:0.4099:0.0	.	.	.	.	X	1090	.	ENSP00000361202:Q1090X	Q	-	1	0	IRS4	107862963	0.951000	0.32395	0.029000	0.17559	0.603000	0.37013	1.766000	0.38491	1.210000	0.43336	0.600000	0.82982	CAA		0.567	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		5	86	0	0	0	0.001368	0	5	86				
ZCCHC16	340595	broad.mit.edu	37	X	111698695	111698695	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:111698695C>A	ENST00000340433.2	+	1	969	c.739C>A	c.(739-741)Ccc>Acc	p.P247T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	247							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTCTTTAGCCCCACAGATCC	0.552																																							uc004epo.1		NA																	0				ovary(1)	1						c.(739-741)CCC>ACC		zinc finger, CCHC domain containing 16							156.0	152.0	153.0					X																	111698695		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698695C>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.739C>A	X.37:g.111698695C>A	ENSP00000340590:p.Pro247Thr						p.P247T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1180	+			247					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.739C>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405005	0.01155	.	.	ENSG00000187823	ENST00000340433	T	0.34472	1.36	4.01	-3.69	0.04450	.	0.942704	0.08684	N	0.908984	T	0.21801	0.0525	L	0.39245	1.2	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.26326	-1.0106	10	0.44086	T	0.13	0.6025	0.4378	0.00482	0.2759:0.2121:0.1344:0.3776	.	247	Q6ZR62	ZCH16_HUMAN	T	247	ENSP00000340590:P247T	ENSP00000340590:P247T	P	+	1	0	ZCCHC16	111585351	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.688000	0.05150	-1.188000	0.02705	-0.344000	0.07964	CCC		0.552	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		37	63	1	0	3.76114e-14	0.004289	6.41961e-14	37	63				
HTR2C	3358	broad.mit.edu	37	X	113965977	113965977	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:113965977C>A	ENST00000276198.1	+	4	1038	c.310C>A	c.(310-312)Cta>Ata	p.L104I	HTR2C_ENST00000371950.3_Missense_Mutation_p.L104I|HTR2C_ENST00000371951.1_Missense_Mutation_p.L104I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	104					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTAGTGGGACTACTTGTCAT	0.388																																							uc004epu.1		NA																	0				ovary(3)	3						c.(310-312)CTA>ATA		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						191.0	153.0	166.0					X																	113965977		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965977C>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.310C>A	X.37:g.113965977C>A	ENSP00000276198:p.Leu104Ile					HTR2C_uc010nqc.1_Missense_Mutation_p.L104I|HTR2C_uc004epv.1_Missense_Mutation_p.L104I	p.L104I	NM_000868	NP_000859	P28335	5HT2C_HUMAN			4	1038	+			104			Helical; Name=2; (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.310C>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760284	0.31137	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.41065	1.01;1.01;1.01	5.22	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.263119	0.29668	N	0.011512	T	0.25975	0.0633	N	0.17312	0.475	0.31468	N	0.668726	B;B	0.28470	0.213;0.004	B;B	0.37091	0.241;0.032	T	0.21759	-1.0236	10	0.19147	T	0.46	.	5.2975	0.15760	0.0:0.7731:0.0:0.2269	.	104;104	B1AMW4;P28335	.;5HT2C_HUMAN	I	104	ENSP00000276198:L104I;ENSP00000361019:L104I;ENSP00000361018:L104I	ENSP00000276198:L104I	L	+	1	2	HTR2C	113872233	0.731000	0.28111	1.000000	0.80357	0.799000	0.45148	0.076000	0.14712	2.425000	0.82216	0.594000	0.82650	CTA		0.388	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		16	16	1	0	1.33834e-09	0.007413	1.99227e-09	16	16				
GPR112	139378	broad.mit.edu	37	X	135426568	135426568	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:135426568A>G	ENST00000394143.1	+	6	994	c.703A>G	c.(703-705)Aca>Gca	p.T235A	GPR112_ENST00000412101.1_Missense_Mutation_p.T30A|GPR112_ENST00000394141.1_Missense_Mutation_p.T30A|GPR112_ENST00000287534.4_Missense_Mutation_p.T172A|GPR112_ENST00000370652.1_Missense_Mutation_p.T235A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	235					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAAAATATGACAATTCAAGA	0.318																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(703-705)ACA>GCA		G-protein coupled receptor 112							62.0	48.0	53.0					X																	135426568		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426568A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.703A>G	X.37:g.135426568A>G	ENSP00000377699:p.Thr235Ala					GPR112_uc010nsb.1_Missense_Mutation_p.T30A|GPR112_uc010nsc.1_Missense_Mutation_p.T2A	p.T235A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	994	+	Acute lymphoblastic leukemia(192;0.000127)		235			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.703A>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	6.103	0.387193	0.11581	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.32;1.32;1.17;1.47;1.17	4.41	1.9	0.25705	.	.	.	.	.	T	0.24084	0.0583	L	0.27053	0.805	0.09310	N	0.999992	P;B;B	0.40107	0.703;0.27;0.096	B;B;B	0.38562	0.276;0.136;0.036	T	0.11446	-1.0587	9	0.72032	D	0.01	.	5.9314	0.19140	0.7663:0.0:0.2337:0.0	.	172;30;235	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	235;235;30;172;30	ENSP00000377699:T235A;ENSP00000359686:T235A;ENSP00000416526:T30A;ENSP00000287534:T172A;ENSP00000377697:T30A	ENSP00000287534:T172A	T	+	1	0	GPR112	135254234	1.000000	0.71417	0.839000	0.33178	0.073000	0.16967	1.096000	0.30976	0.155000	0.19261	0.414000	0.27820	ACA		0.318	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	11	0	0	0	0.000602	0	5	11				
FGF13	2258	broad.mit.edu	37	X	137717645	137717645	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:137717645C>A	ENST00000315930.6	-	4	1235	c.574G>T	c.(574-576)Gct>Tct	p.A192S	FGF13_ENST00000441825.2_Missense_Mutation_p.A173S|FGF13_ENST00000305414.4_Missense_Mutation_p.A139S|FGF13_ENST00000370603.3_Missense_Mutation_p.A202S|FGF13_ENST00000541469.1_Missense_Mutation_p.A146S	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	192	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AGAAAATGAGCTGCAGGCTTG	0.388																																							uc004fam.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(574-576)GCT>TCT		fibroblast growth factor 13 isoform 1							197.0	170.0	179.0					X																	137717645		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137717645C>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.574G>T	X.37:g.137717645C>A	ENSP00000322390:p.Ala192Ser					FGF13_uc004fan.2_Missense_Mutation_p.A139S|FGF13_uc011mwi.1_Missense_Mutation_p.A173S|FGF13_uc004faq.2_Missense_Mutation_p.A202S|FGF13_uc004far.2_Missense_Mutation_p.A173S|FGF13_uc011mwj.1_Missense_Mutation_p.A202S|FGF13_uc011mwk.1_Missense_Mutation_p.A146S	p.A192S	NM_004114	NP_004105	Q92913	FGF13_HUMAN			4	1236	-	Acute lymphoblastic leukemia(192;0.000127)		192					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.574G>T	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052387	0.75960	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	N	0.05031	-0.125	0.80722	D	1	B;B;B;B	0.32573	0.376;0.35;0.068;0.224	P;P;B;P	0.48189	0.535;0.57;0.292;0.535	T	0.71384	-0.4609	10	0.15952	T	0.53	.	18.5888	0.91200	0.0:1.0:0.0:0.0	.	146;202;139;192	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	S	192;139;173;202;146;202	ENSP00000322390:A192S;ENSP00000303391:A139S;ENSP00000409276:A173S;ENSP00000359635:A202S;ENSP00000437903:A146S;ENSP00000396198:A202S	ENSP00000303391:A139S	A	-	1	0	FGF13	137545311	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.487000	0.81328	2.618000	0.88619	0.600000	0.82982	GCT		0.388	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		18	28	1	0	1.55795e-14	0.012319	2.67526e-14	18	28				
MCF2	4168	broad.mit.edu	37	X	138684576	138684576	+	Missense_Mutation	SNP	C	C	A	rs202133857		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:138684576C>A	ENST00000370576.4	-	16	2034	c.1825G>T	c.(1825-1827)Gca>Tca	p.A609S	MCF2_ENST00000338585.6_Missense_Mutation_p.A625S|MCF2_ENST00000370573.4_Missense_Mutation_p.A609S|MCF2_ENST00000520602.1_Missense_Mutation_p.A669S|MCF2_ENST00000536274.1_Missense_Mutation_p.A570S|MCF2_ENST00000370578.4_Missense_Mutation_p.A754S|MCF2_ENST00000519895.1_Missense_Mutation_p.A685S|MCF2_ENST00000414978.1_Missense_Mutation_p.A669S	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	609	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGGAAAAATGCGCATTCTGAA	0.294																																							uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(1825-1827)GCA>TCA		MCF.2 cell line derived transforming sequence							142.0	140.0	141.0					X																	138684576		2203	4299	6502	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138684576C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1825G>T	X.37:g.138684576C>A	ENSP00000359608:p.Ala609Ser					MCF2_uc004fav.2_Missense_Mutation_p.A625S|MCF2_uc011mwl.1_Missense_Mutation_p.A586S|MCF2_uc010nsh.1_Missense_Mutation_p.A609S|MCF2_uc011mwm.1_Missense_Mutation_p.A570S|MCF2_uc011mwn.1_Missense_Mutation_p.A754S|MCF2_uc004faw.2_Missense_Mutation_p.A669S|MCF2_uc011mwo.1_Missense_Mutation_p.A685S	p.A609S	NM_005369	NP_005360	P10911	MCF2_HUMAN			16	2119	-	Acute lymphoblastic leukemia(192;0.000127)		609			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1825G>T	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.809|6.809	0.518263|0.518263	0.13005|0.13005	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05|.	5.35|5.35	4.48|4.48	0.54585|0.54585	Dbl homology (DH) domain (5);|.	0.395304|.	0.30940|.	N|.	0.008571|.	T|T	0.37625|0.37625	0.1010|0.1010	L|L	0.45137|0.45137	1.4|1.4	0.20489|0.20489	N|N	0.999894|0.999894	B;B;B;B;B;B;B;B|.	0.32968|.	0.107;0.217;0.15;0.181;0.15;0.392;0.04;0.018|.	B;B;B;B;B;B;B;B|.	0.36885|.	0.235;0.085;0.151;0.235;0.151;0.235;0.073;0.235|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.22706|.	T|.	0.39|.	.|.	5.6306|5.6306	0.17508|0.17508	0.1717:0.668:0.0:0.1603|0.1717:0.668:0.0:0.1603	.|.	685;754;570;609;609;754;625;609|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	S|L	669;609;570;754;669;212;685;609;625|112	ENSP00000427745:A669S;ENSP00000359608:A609S;ENSP00000438155:A570S;ENSP00000359610:A754S;ENSP00000397055:A669S;ENSP00000405848:A212S;ENSP00000430276:A685S;ENSP00000359605:A609S;ENSP00000342204:A625S|.	ENSP00000342204:A625S|.	A|R	-|-	1|2	0|0	MCF2|MCF2	138512242|138512242	0.002000|0.002000	0.14202|0.14202	0.955000|0.955000	0.39395|0.39395	0.096000|0.096000	0.18686|0.18686	0.021000|0.021000	0.13489|0.13489	2.242000|2.242000	0.73789|0.73789	0.594000|0.594000	0.82650|0.82650	GCA|CGC		0.294	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		21	51	1	0	2.37509e-13	0.010504	3.95849e-13	21	51				
CXorf66	347487	broad.mit.edu	37	X	139047602	139047602	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:139047602C>A	ENST00000370540.1	-	1	77	c.54G>T	c.(52-54)atG>atT	p.M18I		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	18						integral component of membrane (GO:0016021)		p.M18I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTTTGTAGTCATGCAATTAT	0.318																																							uc004fbb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)ATG>ATT		hypothetical protein LOC347487 precursor							212.0	188.0	196.0					X																	139047602		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139047602C>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.54G>T	X.37:g.139047602C>A	ENSP00000359571:p.Met18Ile						p.M18I	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			1	76	-			18						Missense_Mutation	SNP	ENST00000370540.1	37	c.54G>T	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	7.277	0.608288	0.14002	.	.	ENSG00000203933	ENST00000370540	T	0.42513	0.97	3.67	-6.5	0.01884	.	.	.	.	.	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.19484	-1.0304	8	.	.	.	-0.1424	0.6606	0.00842	0.2594:0.2162:0.332:0.1924	.	18	Q5JRM2	CX066_HUMAN	I	18	ENSP00000359571:M18I	.	M	-	3	0	CXorf66	138875268	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.013000	0.13310	-1.431000	0.01982	-0.513000	0.04457	ATG		0.318	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		14	37	1	0	0.00244969	0.00245	0.00268503	14	37				
UBE2NL	389898	broad.mit.edu	37	X	142967330	142967330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:142967330C>A	ENST00000370494.1	+	1	158	c.128C>A	c.(127-129)tCa>tAa	p.S43*		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	43						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGGGAATCAAAGGATTCC	0.463																																							uc004fca.2		NA																	0					0						c.(127-129)TCA>TAA		ubiquitin-conjugating enzyme E2N-like							97.0	95.0	96.0					X																	142967330		2203	4300	6503	SO:0001587	stop_gained	389898						acid-amino acid ligase activity	g.chrX:142967330C>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.128C>A	X.37:g.142967330C>A	ENSP00000359525:p.Ser43*						p.S43*	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	158	+	Acute lymphoblastic leukemia(192;6.56e-05)		43					E9KL27	Nonsense_Mutation	SNP	ENST00000370494.1	37	c.128C>A	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	6.884	0.532541	0.13127	.	.	ENSG00000102069	ENST00000370494	.	.	.	1.1	-1.21	0.09524	.	0.458776	0.14227	U	0.333031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.4511	7.7815	0.29068	0.0:0.8003:0.0:0.1997	.	.	.	.	X	43	.	ENSP00000359525:S43X	S	+	2	0	UBE2NL	142794996	1.000000	0.71417	0.349000	0.25694	0.002000	0.02628	2.755000	0.47540	-0.525000	0.06391	-1.454000	0.01032	TCA		0.463	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		31	38	1	0	8.16721e-17	0.010818	1.44778e-16	31	38				
PASD1	139135	broad.mit.edu	37	X	150773156	150773156	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:150773156T>A	ENST00000370357.4	+	3	312	c.67T>A	c.(67-69)Tgg>Agg	p.W23R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	23						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTAAACTGGATTCCATC	0.333																																							uc004fev.3		NA																	0				ovary(3)	3						c.(67-69)TGG>AGG		PAS domain containing 1							99.0	82.0	88.0					X																	150773156		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150773156T>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.67T>A	X.37:g.150773156T>A	ENSP00000359382:p.Trp23Arg						p.W23R	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			3	399	+	Acute lymphoblastic leukemia(192;6.56e-05)		23					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.67T>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.558753	0.27827	.	.	ENSG00000166049	ENST00000370357	T	0.67865	-0.29	5.39	2.95	0.34219	.	.	.	.	.	T	0.76807	0.4039	M	0.77406	2.37	0.09310	N	1	D	0.62365	0.991	D	0.63793	0.918	T	0.64753	-0.6333	9	0.87932	D	0	.	5.1665	0.15088	0.1771:0.0:0.1914:0.6315	.	23	Q8IV76	PASD1_HUMAN	R	23	ENSP00000359382:W23R	ENSP00000359382:W23R	W	+	1	0	PASD1	150523812	0.050000	0.20438	0.001000	0.08648	0.004000	0.04260	1.399000	0.34566	0.205000	0.20568	0.405000	0.27470	TGG		0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		4	5	0	0	0	0.009096	0	4	5				
L1CAM	3897	broad.mit.edu	37	X	153133866	153133866	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:153133866C>A	ENST00000370060.1	-	14	1783	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	L1CAM_ENST00000538883.1_Missense_Mutation_p.G534C|L1CAM_ENST00000361699.4_Missense_Mutation_p.G532C|L1CAM_ENST00000543994.1_Missense_Mutation_p.G534C|L1CAM_ENST00000370055.1_Missense_Mutation_p.G527C|L1CAM_ENST00000370057.3_Missense_Mutation_p.G532C|L1CAM_ENST00000361981.3_Missense_Mutation_p.G527C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	532	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTGGAACCTTTCTTCTCG	0.612																																							uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(1594-1596)GGT>TGT		L1 cell adhesion molecule isoform 1 precursor							138.0	143.0	142.0					X																	153133866		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153133866C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1594G>T	X.37:g.153133866C>A	ENSP00000359077:p.Gly532Cys					L1CAM_uc004fjc.2_Missense_Mutation_p.G532C|L1CAM_uc010nuo.2_Missense_Mutation_p.G527C|L1CAM_uc004fjd.1_Missense_Mutation_p.G346C	p.G532C	NM_000425	NP_000416	P32004	L1CAM_HUMAN			13	1702	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		532			Ig-like C2-type 6.|Extracellular (Potential).		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1594G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982811	0.74474	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.62	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.92567	0.7639	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94299	0.7535	10	0.87932	D	0	.	12.6022	0.56503	0.0:0.8362:0.1638:0.0	.	527;532;532	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	C	532;534;532;534;527;527;532	ENSP00000359077:G532C;ENSP00000438430:G534C;ENSP00000359074:G532C;ENSP00000439645:G534C;ENSP00000354712:G527C;ENSP00000359072:G527C;ENSP00000355380:G532C	ENSP00000355380:G532C	G	-	1	0	L1CAM	152787060	0.994000	0.37717	0.992000	0.48379	0.706000	0.40770	2.428000	0.44749	2.374000	0.81015	0.529000	0.55759	GGT		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		37	71	1	0	3.54561e-26	0.009718	6.7649e-26	37	71				
PLXNA3	55558	broad.mit.edu	37	X	153694733	153694733	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:153694733C>G	ENST00000369682.3	+	16	2989	c.2814C>G	c.(2812-2814)gaC>gaG	p.D938E		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	938	IPT/TIG 2.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACGTTTGACCAAGTGAGTC	0.672																																							uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2812-2814)GAC>GAG		plexin A3 precursor							76.0	90.0	85.0					X																	153694733		2203	4297	6500	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694733C>G	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2814C>G	X.37:g.153694733C>G	ENSP00000358696:p.Asp938Glu						p.D938E	NM_017514	NP_059984	P51805	PLXA3_HUMAN			16	2987	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		938			IPT/TIG 2.|Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.2814C>G	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	7.562	0.664824	0.14710	.	.	ENSG00000130827	ENST00000369682	T	0.76968	-1.06	5.0	4.14	0.48551	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.821453	0.11464	N	0.561431	T	0.57592	0.2064	N	0.20685	0.6	0.09310	N	0.999997	B	0.02656	0.0	B	0.08055	0.003	T	0.45848	-0.9233	10	0.02654	T	1	.	6.604	0.22716	0.0:0.7045:0.0:0.2955	.	938	P51805	PLXA3_HUMAN	E	938	ENSP00000358696:D938E	ENSP00000358696:D938E	D	+	3	2	PLXNA3	153347927	0.000000	0.05858	0.405000	0.26409	0.687000	0.40016	0.321000	0.19558	0.884000	0.36064	0.597000	0.82753	GAC		0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		34	82	0	0	0	0.003755	0	34	82				
F8	2157	broad.mit.edu	37	X	154132669	154132669	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:154132669T>C	ENST00000360256.4	-	17	5917	c.5717A>G	c.(5716-5718)aAa>aGa	p.K1906R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1906	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTACCAGCTTTTGGTCTCATC	0.448																																							uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5716-5718)AAA>AGA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						189.0	174.0	179.0					X																	154132669		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154132669T>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5717A>G	X.37:g.154132669T>C	ENSP00000353393:p.Lys1906Arg					F8_uc010nvi.1_Missense_Mutation_p.K65R	p.K1906R	NM_000132	NP_000123	P00451	FA8_HUMAN			17	5888	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1906			F5/8 type A 3.|Plastocyanin-like 6.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5717A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.724735	0.68959	.	.	ENSG00000185010	ENST00000360256	D	0.97976	-4.64	4.3	4.3	0.51218	Cupredoxin (2);	0.145980	0.64402	D	0.000010	D	0.97002	0.9021	L	0.60455	1.87	0.51767	D	0.999937	B;B	0.33280	0.036;0.405	B;P	0.44647	0.015;0.456	D	0.96442	0.9327	10	0.44086	T	0.13	-20.9353	12.0508	0.53505	0.0:0.0:0.0:1.0	.	34;1906	Q2VF45;P00451	.;FA8_HUMAN	R	1906	ENSP00000353393:K1906R	ENSP00000353393:K1906R	K	-	2	0	F8	153785863	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.745000	0.62125	1.677000	0.50941	0.425000	0.28330	AAA		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			51	68	0	0	0	0.00361	0	51	68				
IL23R	149233	broad.mit.edu	37	1	67724433	67724434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:67724433_67724434insA	ENST00000347310.5	+	11	1683_1684	c.1512_1513insA	c.(1513-1515)actfs	p.T505fs	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Frame_Shift_Ins_p.T250fs|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	505					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATAATGAAATTACTTCCTTAAC	0.347																																							uc001ddo.2		NA																	0					0						c.(1510-1515)ATTACTfs		interleukin 23 receptor precursor																																				SO:0001589	frameshift_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724433_67724434insA	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1513dupA	1.37:g.67724434_67724434dupA	ENSP00000321345:p.Thr505fs					IL23R_uc009waz.2_Frame_Shift_Ins_p.I301fs|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Frame_Shift_Ins_p.I102fs|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Frame_Shift_Ins_p.I86fs|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Frame_Shift_Ins_p.I250fs|IL23R_uc010opn.1_Frame_Shift_Ins_p.I349fs|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Frame_Shift_Ins_p.I301fs|IL23R_uc010opt.1_Frame_Shift_Ins_p.I145fs|IL23R_uc010opu.1_Frame_Shift_Ins_p.I200fs|IL23R_uc010opv.1_Frame_Shift_Ins_p.I262fs|IL23R_uc010opw.1_Frame_Shift_Ins_p.I139fs|IL23R_uc010opx.1_Frame_Shift_Ins_p.I145fs|IL23R_uc010opy.1_Frame_Shift_Ins_p.I271fs|IL23R_uc010opz.1_Frame_Shift_Ins_p.I145fs|IL23R_uc010oqa.1_Frame_Shift_Ins_p.I145fs|IL23R_uc010oqb.1_Frame_Shift_Ins_p.I333fs|IL23R_uc010oqc.1_Frame_Shift_Ins_p.I220fs|IL23R_uc010oqd.1_Frame_Shift_Ins_p.I139fs|IL23R_uc010oqe.1_Frame_Shift_Ins_p.I102fs|IL23R_uc010oqf.1_Frame_Shift_Ins_p.I102fs|IL23R_uc010oqg.1_Frame_Shift_Ins_p.I102fs|IL23R_uc010oqh.1_Frame_Shift_Ins_p.I145fs|IL23R_uc001dds.2_Frame_Shift_Ins_p.I249fs|IL23R_uc001ddt.2_Frame_Shift_Ins_p.I102fs	p.I504fs	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			11	1597_1598	+			504_505			Cytoplasmic (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Frame_Shift_Ins	INS	ENST00000347310.5	37	c.1512_1513insA	CCDS637.1																																																																																				0.347	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		13	28	NA	NA	NA	NA	NA	13	28	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155451048	155451048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:155451048delG	ENST00000368346.3	-	3	2252	c.1613delC	c.(1612-1614)tctfs	p.S538fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.S538fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	538					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGATACATCAGAAGCACCTCC	0.438																																							uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(1612-1614)TCTfs		absent, small, or homeotic 1-like							107.0	110.0	109.0					1																	155451048		2203	4300	6503	SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155451048delG	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1613delC	1.37:g.155451048delG	ENSP00000357330:p.Ser538fs					ASH1L_uc001fkt.2_Frame_Shift_Del_p.S538fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.S538fs	p.S538fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2093	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		538					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.1613delC																																																																																					0.438	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	73	NA	NA	NA	NA	NA	8	73	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175355240	175355240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:175355240delG	ENST00000367674.2	-	8	2413	c.1705delC	c.(1705-1707)cgafs	p.R569fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.R569fs			Q92752	TENR_HUMAN	tenascin R	569	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTCGTATCGGGAGCCAGGC	0.627																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1705-1707)CGAfs		tenascin R precursor							69.0	65.0	66.0					1																	175355240		2203	4300	6503	SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355240delG	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1705delC	1.37:g.175355240delG	ENSP00000356646:p.Arg569fs					TNR_uc009wwu.1_Frame_Shift_Del_p.R569fs	p.R569fs	NM_003285	NP_003276	Q92752	TENR_HUMAN			6	1786	-	Renal(580;0.146)		569			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	ENST00000367674.2	37	c.1705delC	CCDS1318.1																																																																																				0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	72	NA	NA	NA	NA	NA	19	72	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308469	248308469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:248308469delC	ENST00000366476.1	+	1	20	c.20delC	c.(19-21)accfs	p.T7fs		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T7N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GAGAATCAGACCTTCAACTCT	0.428																																							uc010pze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(19-21)ACCfs		olfactory receptor, family 2, subfamily M,							212.0	209.0	210.0					1																	248308469		2203	4300	6503	SO:0001589	frameshift_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308469delC		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.20delC	1.37:g.248308469delC	ENSP00000355432:p.Thr7fs						p.T7fs	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	20	+	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)		7			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000366476.1	37	c.20delC	CCDS31105.1																																																																																				0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		50	201	NA	NA	NA	NA	NA	50	201	---	---	---	---
SH3BP5L	80851	broad.mit.edu	37	1	249106309	249106309	+	Frame_Shift_Del	DEL	G	G	-	rs373021898		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr1:249106309delG	ENST00000366472.5	-	7	2201	c.972delC	c.(970-972)cccfs	p.P324fs	SH3BP5L_ENST00000411742.2_Frame_Shift_Del_p.P292fs|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	324										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGCGGGGCCGGGCCCCAGGC	0.711																																							uc001iew.1		NA																	0					0						c.(970-972)CCCfs		SH3-binding domain protein 5-like							16.0	22.0	20.0					1																	249106309		2195	4286	6481	SO:0001589	frameshift_variant	80851							g.chr1:249106309delG	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.972delC	1.37:g.249106309delG	ENSP00000355428:p.Pro324fs					SH3BP5L_uc010pzp.1_Frame_Shift_Del_p.P217fs|SH3BP5L_uc010pzq.1_Frame_Shift_Del_p.P292fs|SH3BP5L_uc001iev.1_Frame_Shift_Del_p.P205fs	p.P324fs	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1524	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	324					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Frame_Shift_Del	DEL	ENST00000366472.5	37	c.972delC	CCDS31126.1																																																																																				0.711	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		8	36	NA	NA	NA	NA	NA	8	36	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	608054	608064	+	Frame_Shift_Del	DEL	CAGCCCGAAGG	CAGCCCGAAGG	-	rs541916891		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CAGCCCGAAGG	CAGCCCGAAGG	-	-	CAGCCCGAAGG	CAGCCCGAAGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:608054_608064delCAGCCCGAAGG	ENST00000264555.5	+	14	2726_2736	c.2598_2608delCAGCCCGAAGG	c.(2596-2610)aacagcccgaaggccfs	p.SPKA867fs	PHRF1_ENST00000416188.2_Frame_Shift_Del_p.SPKA866fs|PHRF1_ENST00000413872.2_Frame_Shift_Del_p.SPKA865fs|PHRF1_ENST00000533464.1_Frame_Shift_Del_p.SPKA863fs	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	867					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTCCATCAACAGCCCGAAGGCCCAGACGGT	0.673																																							uc001lqe.2		NA																	0					0						c.(2596-2610)AACAGCCCGAAGGCCfs		PHD and ring finger domains 1																																				SO:0001589	frameshift_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:608054_608064delCAGCCCGAAGG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2598_2608delCAGCCCGAAGG	11.37:g.608054_608064delCAGCCCGAAGG	ENSP00000264555:p.Ser867fs					PHRF1_uc010qwc.1_Frame_Shift_Del_p.N865fs|PHRF1_uc010qwd.1_Frame_Shift_Del_p.N864fs|PHRF1_uc010qwe.1_Frame_Shift_Del_p.N862fs|PHRF1_uc009ybz.1_Frame_Shift_Del_p.N656fs|PHRF1_uc009yca.1_RNA	p.N866fs	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2729_2739	+			866_870					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Frame_Shift_Del	DEL	ENST00000264555.5	37	c.2598_2608delCAGCCCGAAGG																																																																																					0.673	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		13	84	NA	NA	NA	NA	NA	13	84	---	---	---	---
ASCL3	56676	broad.mit.edu	37	11	8959302	8959303	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:8959302_8959303insT	ENST00000531618.1	-	1	455_456	c.406_407insA	c.(406-408)agafs	p.R136fs	ASCL3_ENST00000325884.1_Frame_Shift_Ins_p.R136fs			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	135	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GATCGCAGCTCTGAGGGTTTCC	0.49																																							uc001mhd.1		NA																	0					0						c.(406-408)AGAfs		ASCL3																																				SO:0001589	frameshift_variant	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959302_8959303insT	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.407dupA	11.37:g.8959303_8959303dupT	ENSP00000435770:p.Arg136fs						p.R136fs	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	466_467	-			135			Helix-loop-helix motif.		Q8WYQ6	Frame_Shift_Ins	INS	ENST00000531618.1	37	c.406_407insA	CCDS7795.1																																																																																				0.490	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			10	39	NA	NA	NA	NA	NA	10	39	---	---	---	---
METTL15	196074	broad.mit.edu	37	11	28318438	28318438	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:28318438delC	ENST00000407364.3	+	6	1090	c.738delC	c.(736-738)tacfs	p.Y246fs	METTL15_ENST00000303459.6_Frame_Shift_Del_p.Y246fs|METTL15_ENST00000342303.5_Frame_Shift_Del_p.Y246fs|METTL15_ENST00000406787.3_Frame_Shift_Del_p.P232fs			A6NJ78	MET15_HUMAN	methyltransferase like 15	246							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						GCAGCATCTACCCCATCACCA	0.448																																							uc001msh.2		NA																	0					0						c.(736-738)TACfs		methyltransferase 5 domain containing 1 isoform							113.0	101.0	105.0					11																	28318438		2202	4299	6501	SO:0001589	frameshift_variant	196074						methyltransferase activity	g.chr11:28318438delC	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.738delC	11.37:g.28318438delC	ENSP00000384369:p.Tyr246fs					METT5D1_uc001msg.2_Frame_Shift_Del_p.Y246fs|METT5D1_uc001mse.2_Frame_Shift_Del_p.P232fs|METT5D1_uc001msi.2_Frame_Shift_Del_p.Y43fs	p.Y246fs	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN			6	1193	+			246					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Frame_Shift_Del	DEL	ENST00000407364.3	37	c.738delC	CCDS44559.1																																																																																				0.448	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		19	87	NA	NA	NA	NA	NA	19	87	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322642	55322642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55322642delG	ENST00000314644.2	+	1	860	c.860delG	c.(859-861)tggfs	p.W287fs		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAGGGCGCTGGAAAGCTCTC	0.438										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(859-861)TGGfs		olfactory receptor, family 4, subfamily C,							228.0	211.0	217.0					11																	55322642		2201	4296	6497	SO:0001589	frameshift_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322642delG	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.860delG	11.37:g.55322642delG	ENSP00000324958:p.Trp287fs	HNSCC(20;0.049)					p.W287fs	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	860	+			233			Cytoplasmic (Potential).		Q6IFE2	Frame_Shift_Del	DEL	ENST00000314644.2	37	c.860delG	CCDS31501.1																																																																																				0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		48	92	NA	NA	NA	NA	NA	48	92	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339859	55339859	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55339859delA	ENST00000314634.3	+	1	256	c.256delA	c.(256-258)aagfs	p.K87fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K86*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGCCCTTTTGAAGAAGACAAC	0.433																																							uc010rih.1		NA																	1	Substitution - Nonsense(1)	p.K86*(1)	ovary(1)	ovary(1)|skin(1)	2						c.(256-258)AAGfs		olfactory receptor, family 4, subfamily C,							262.0	245.0	251.0					11																	55339859		2201	4296	6497	SO:0001589	frameshift_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339859delA	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.256delA	11.37:g.55339859delA	ENSP00000324913:p.Lys87fs						p.K86fs	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	256	+		all_epithelial(135;0.0748)	86			Extracellular (Potential).		Q6IEV8	Frame_Shift_Del	DEL	ENST00000314634.3	37	c.256delA	CCDS31502.1																																																																																				0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		50	188	NA	NA	NA	NA	NA	50	188	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872601	55872602	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:55872601_55872602delTG	ENST00000313503.1	+	1	83_84	c.83_84delTG	c.(82-84)ctgfs	p.L28fs		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGATGGCTCTGTTTATGCTAT	0.431										HNSCC(53;0.14)																													uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(82-84)CTGfs		olfactory receptor, family 8, subfamily H,																																				SO:0001589	frameshift_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872601_55872602delTG	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.83_84delTG	11.37:g.55872601_55872602delTG	ENSP00000323982:p.Leu28fs	HNSCC(53;0.14)					p.L28fs	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	83_84	+	Esophageal squamous(21;0.00693)		28			Helical; Name=1; (Potential).		Q6IFC1	Frame_Shift_Del	DEL	ENST00000313503.1	37	c.83_84delTG	CCDS31518.1																																																																																				0.431	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		67	116	NA	NA	NA	NA	NA	67	116	---	---	---	---
FOSL1	8061	broad.mit.edu	37	11	65664461	65664461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:65664461delG	ENST00000312562.2	-	2	302	c.116delC	c.(115-117)ccafs	p.P39fs	FOSL1_ENST00000532401.1_Frame_Shift_Del_p.P39fs|FOSL1_ENST00000531493.1_Frame_Shift_Del_p.P39fs|FOSL1_ENST00000448083.2_Intron	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	39					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GTTGATGCTTGGCACCAGGTG	0.557																																							uc001ogg.1		NA																	0					0						c.(115-117)CCAfs		FOS-like antigen 1							71.0	63.0	66.0					11																	65664461		2201	4296	6497	SO:0001589	frameshift_variant	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65664461delG	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.116delC	11.37:g.65664461delG	ENSP00000310170:p.Pro39fs					FOSL1_uc010ros.1_Intron	p.P39fs	NM_005438	NP_005429	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	2	303	-			39					B4DR11|Q6FG51	Frame_Shift_Del	DEL	ENST00000312562.2	37	c.116delC	CCDS8121.1																																																																																				0.557	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		16	50	NA	NA	NA	NA	NA	16	50	---	---	---	---
CATSPER1	117144	broad.mit.edu	37	11	65788097	65788098	+	Splice_Site	INS	-	-	A	rs200020058		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:65788097_65788098insA	ENST00000312106.5	-	7	2065_2066	c.1928_1929insT	c.(1927-1929)ggc>ggTc	p.G643fs		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	643					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGTACCAGGCGCCTAGGGGGAG	0.594																																							uc001ogt.2		NA																	0				ovary(2)	2						c.(1927-1929)GGCfs		sperm-associated cation channel 1																																				SO:0001630	splice_region_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65788097_65788098insA	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1928-1->T	11.37:g.65788097_65788098insA							p.G643fs	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			7	2066_2067	-			643			Extracellular (Potential).		Q96P76	Frame_Shift_Ins	INS	ENST00000312106.5	37	c.1928_1929insT	CCDS8127.1																																																																																				0.594	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	Frame_Shift_Ins	8	35	NA	NA	NA	NA	NA	8	35	---	---	---	---
CRTAM	56253	broad.mit.edu	37	11	122742061	122742061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr11:122742061delC	ENST00000227348.4	+	10	1183	c.1136delC	c.(1135-1137)tcafs	p.S379fs	CRTAM_ENST00000533709.1_Frame_Shift_Del_p.S180fs	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GTACAACATTCAAAATTAGAA	0.413																																							uc001pyj.2		NA																	0				ovary(1)	1						c.(1135-1137)TCAfs		class-I MHC-restricted T cell associated							99.0	90.0	93.0					11																	122742061		2202	4299	6501	SO:0001589	frameshift_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122742061delC	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.1136delC	11.37:g.122742061delC	ENSP00000227348:p.Ser379fs					CRTAM_uc001pyk.2_Frame_Shift_Del_p.S180fs	p.S379fs	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	10	1136	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	379			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000227348.4	37	c.1136delC	CCDS8437.1																																																																																				0.413	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		25	44	NA	NA	NA	NA	NA	25	44	---	---	---	---
CAPZA3	93661	broad.mit.edu	37	12	18891436	18891436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:18891436delG	ENST00000317658.3	+	1	392	c.234delG	c.(232-234)atgfs	p.M78fs	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	78					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACAATGTAATGGGCGACTACC	0.423																																							uc001rdy.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(232-234)ATGfs		capping protein alpha 3							106.0	96.0	100.0					12																	18891436		2203	4300	6503	SO:0001589	frameshift_variant	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891436delG	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.234delG	12.37:g.18891436delG	ENSP00000326238:p.Met78fs					PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	p.M78fs	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN			1	392	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	78					Q969J0	Frame_Shift_Del	DEL	ENST00000317658.3	37	c.234delG	CCDS8681.1																																																																																				0.423	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		16	55	NA	NA	NA	NA	NA	16	55	---	---	---	---
NTS	4922	broad.mit.edu	37	12	86268206	86268207	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr12:86268206_86268207insA	ENST00000256010.6	+	1	132_133	c.25_26insA	c.(25-27)cttfs	p.L9fs	NTS_ENST00000551529.1_Frame_Shift_Ins_p.L9fs	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	9					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						GAAAATCCAGCTTGTATGCATG	0.446																																							uc001tag.2		NA																	0					0						c.(25-27)CTTfs		neurotensin/neuromedin N preproprotein																																				SO:0001589	frameshift_variant	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86268206_86268207insA		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	Exception_encountered	12.37:g.86268206_86268207insA	ENSP00000256010:p.Leu9fs						p.L9fs	NM_006183	NP_006174	P30990	NEUT_HUMAN			1	132_133	+			9						Frame_Shift_Ins	INS	ENST00000256010.6	37	c.25_26insA	CCDS9029.1																																																																																				0.446	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2			27	61	NA	NA	NA	NA	NA	27	61	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681505	70681505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr13:70681505delC	ENST00000377844.4	-	1	1086	c.327delG	c.(325-327)gggfs	p.G109fs	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	109					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAGTGCCCTGCCCAGGAGCCC	0.602																																							uc001vip.2		NA																	0					0						c.(325-327)GGGfs		kelch-like 1 protein							48.0	47.0	48.0					13																	70681505		2203	4300	6503	SO:0001589	frameshift_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681505delC	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.327delG	13.37:g.70681505delC	ENSP00000367075:p.Gly109fs					KLHL1_uc010thm.1_Frame_Shift_Del_p.G109fs|ATXN8OS_uc010aej.1_RNA	p.G109fs	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1121	-		Breast(118;0.000162)	109					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Del	DEL	ENST00000377844.4	37	c.327delG	CCDS9445.1																																																																																				0.602	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		17	50	NA	NA	NA	NA	NA	17	50	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389492	20389493	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:20389492_20389493insA	ENST00000315915.4	+	1	752_753	c.727_728insA	c.(727-729)catfs	p.H243fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGGCTTCCCATATTGCAGTA	0.401																																							uc010tkw.1		NA																	0				ovary(1)|skin(1)	2						c.(727-729)CATfs		olfactory receptor, family 4, subfamily K,																																				SO:0001589	frameshift_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389492_20389493insA	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.728dupA	14.37:g.20389493_20389493dupA	ENSP00000319511:p.His243fs						p.H243fs	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	727_728	+	all_cancers(95;0.00108)		243			Helical; Name=6; (Potential).		Q6IFA7	Frame_Shift_Ins	INS	ENST00000315915.4	37	c.727_728insA	CCDS32024.1																																																																																				0.401	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		35	145	NA	NA	NA	NA	NA	35	145	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404324	20404324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:20404324delC	ENST00000285600.4	+	1	558	c.499delC	c.(499-501)ccafs	p.P167fs		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTGGACCTGCCATTCTGTGG	0.458																																							uc001vwj.1		NA																	0				skin(2)|ovary(1)	3						c.(499-501)CCAfs		olfactory receptor, family 4, subfamily K,							137.0	140.0	139.0					14																	20404324		2203	4300	6503	SO:0001589	frameshift_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404324delC		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.499delC	14.37:g.20404324delC	ENSP00000285600:p.Pro167fs						p.P167fs	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	499	+	all_cancers(95;0.00108)		167			Extracellular (Potential).		B9EKV9|Q8NGD6|Q96R73	Frame_Shift_Del	DEL	ENST00000285600.4	37	c.499delC	CCDS32025.1																																																																																				0.458	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			20	84	NA	NA	NA	NA	NA	20	84	---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100182233	100182233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:100182233delC	ENST00000261835.3	+	8	884	c.780delC	c.(778-780)cgcfs	p.R262fs	CYP46A1_ENST00000554176.1_Frame_Shift_Del_p.R109fs|CYP46A1_ENST00000423126.2_Frame_Shift_Del_p.R165fs	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	262					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGGTCCAGCGCCGCCGGGAAG	0.647																																							uc001ygo.2		NA																	0					0						c.(778-780)CGCfs		cytochrome P450, family 46							27.0	32.0	30.0					14																	100182233		2203	4300	6503	SO:0001589	frameshift_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100182233delC	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.780delC	14.37:g.100182233delC	ENSP00000261835:p.Arg262fs					CYP46A1_uc001ygp.2_Frame_Shift_Del_p.R107fs	p.R260fs	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			8	780	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	260					B4DHP8|E7EQG9|Q8N2B0	Frame_Shift_Del	DEL	ENST00000261835.3	37	c.780delC	CCDS9954.1																																																																																				0.647	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			10	28	NA	NA	NA	NA	NA	10	28	---	---	---	---
EVL	51466	broad.mit.edu	37	14	100551124	100551125	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr14:100551124_100551125delAT	ENST00000402714.2	+	2	710_711	c.106_107delAT	c.(106-108)atcfs	p.I36fs	EVL_ENST00000392920.3_Frame_Shift_Del_p.I38fs|EVL_ENST00000544450.2_Frame_Shift_Del_p.I42fs|EVL_ENST00000555048.1_3'UTR			Q9UI08	EVL_HUMAN	Enah/Vasp-like	36	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ATTCAGCCGGATCAACATCTAC	0.51																																							uc001ygt.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(106-108)ATCfs		Enah/Vasp-like																																				SO:0001589	frameshift_variant	51466				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	g.chr14:100551124_100551125delAT	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.106_107delAT	14.37:g.100551124_100551125delAT	ENSP00000384720:p.Ile36fs					EVL_uc001ygv.2_Frame_Shift_Del_p.I42fs|EVL_uc001ygu.2_Frame_Shift_Del_p.I38fs|EVL_uc010avu.2_5'UTR	p.I36fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN			2	345_346	+		Melanoma(154;0.152)	36			WH1.		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Frame_Shift_Del	DEL	ENST00000402714.2	37	c.106_107delAT																																																																																					0.510	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			20	62	NA	NA	NA	NA	NA	20	62	---	---	---	---
LRRC57	255252	broad.mit.edu	37	15	42840305	42840306	+	Splice_Site	DEL	CA	CA	-	rs150825131		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr15:42840305_42840306delCA	ENST00000323443.2	-	2	588_589	c.221_222delTG	c.(220-222)ctg>c	p.L74fs	HAUS2_ENST00000568876.1_5'Flank|LRRC57_ENST00000397130.3_Splice_Site_p.L74fs|HAUS2_ENST00000260372.3_5'Flank|HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000563454.1_Splice_Site_p.L74fs			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	74						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GAGCCATACTCAGTTTGTTGTT	0.465																																							uc001zqd.1		NA																	0					0						c.(220-222)CTGfs		leucine rich repeat containing 57																																				SO:0001630	splice_region_variant	255252							g.chr15:42840305_42840306delCA	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.223+1TG>-	15.37:g.42840305_42840306delCA						HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Frame_Shift_Del_p.L74fs	p.L74fs	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	2	589_590	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	74			LRR 2.		Q7Z2Z6|Q8N1T6	Frame_Shift_Del	DEL	ENST00000323443.2	37	c.221_222delTG	CCDS10089.1																																																																																				0.465	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260	Frame_Shift_Del	10	51	NA	NA	NA	NA	NA	10	51	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70977826	70977826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr16:70977826delC	ENST00000393567.2	-	42	6708	c.6558delG	c.(6556-6558)gggfs	p.G2186fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2186					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTGGATGGGCCCCGGGGGGA	0.582																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(6553-6555)GGGfs		hydrocephalus inducing isoform a							29.0	32.0	31.0					16																	70977826		1976	4154	6130	SO:0001589	frameshift_variant	54768							g.chr16:70977826delC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6558delG	16.37:g.70977826delC	ENSP00000377197:p.Gly2186fs						p.G2185fs	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			42	6683	-		Ovarian(137;0.0654)	2186					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	ENST00000393567.2	37	c.6555delG	CCDS59269.1																																																																																				0.582	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			11	17	NA	NA	NA	NA	NA	11	17	---	---	---	---
GAA	2548	broad.mit.edu	37	17	78083808	78083808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr17:78083808delG	ENST00000302262.3	+	9	1610	c.1391delG	c.(1390-1392)aggfs	p.R464fs	GAA_ENST00000390015.3_Frame_Shift_Del_p.R464fs	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	464					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGTCTGCGGAGGGGGGTTTTC	0.657																																							uc002jxo.2		NA																	0				ovary(1)	1						c.(1390-1392)AGGfs		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						37.0	43.0	41.0					17																	78083808		2202	4300	6502	SO:0001589	frameshift_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78083808delG		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1391delG	17.37:g.78083808delG	ENSP00000305692:p.Arg464fs					GAA_uc002jxp.2_Frame_Shift_Del_p.R464fs|GAA_uc002jxq.2_Frame_Shift_Del_p.R464fs	p.R464fs	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		10	1573	+	all_neural(118;0.117)		464					Q09GN4|Q14351|Q16302|Q8IWE7	Frame_Shift_Del	DEL	ENST00000302262.3	37	c.1391delG	CCDS32760.1																																																																																				0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			16	86	NA	NA	NA	NA	NA	16	86	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12697226	12697227	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:12697226_12697227insC	ENST00000262127.2	-	5	926_927	c.701_702insG	c.(700-702)ggtfs	p.G234fs	CEP76_ENST00000586887.1_5'Flank|CEP76_ENST00000423709.2_Frame_Shift_Ins_p.G159fs|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	234					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCATACCTACACCCATAAGTTC	0.342																																							uc002kri.2		NA																	0					0						c.(700-702)GGTfs		centrosomal protein 76kDa																																				SO:0001589	frameshift_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12697226_12697227insC	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.702dupG	18.37:g.12697229_12697229dupC	ENSP00000262127:p.Gly234fs					PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Frame_Shift_Ins_p.G56fs|CEP76_uc010wzz.1_Frame_Shift_Ins_p.G159fs|CEP76_uc010xaa.1_Frame_Shift_Ins_p.G56fs	p.G234fs	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			5	857_858	-			234					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Frame_Shift_Ins	INS	ENST00000262127.2	37	c.701_702insG	CCDS11861.1																																																																																				0.342	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		19	20	NA	NA	NA	NA	NA	19	20	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74583718	74583718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr18:74583718delC	ENST00000253159.8	+	5	796	c.598delC	c.(598-600)ccgfs	p.P200fs	ZNF236_ENST00000320610.9_Frame_Shift_Del_p.P202fs|ZNF236_ENST00000583095.1_Intron	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	200					cellular response to glucose stimulus (GO:0071333)|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)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTATTCGTGTCCGCACTGTGG	0.438																																							uc002lmi.2		NA																	0				ovary(4)	4						c.(598-600)CCGfs		zinc finger protein 236							158.0	141.0	146.0					18																	74583718		1996	4170	6166	SO:0001589	frameshift_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74583718delC	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.598delC	18.37:g.74583718delC	ENSP00000253159:p.Pro200fs					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Frame_Shift_Del_p.P200fs	p.P200fs	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	5	796	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	200			C2H2-type 6.		B2RTX9|Q9UL37	Frame_Shift_Del	DEL	ENST00000253159.8	37	c.598delC	CCDS42447.1																																																																																				0.438	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			20	53	NA	NA	NA	NA	NA	20	53	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51175344	51175344	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:51175344delG	ENST00000293441.1	-	21	2623	c.2605delC	c.(2605-2607)cagfs	p.Q869fs	SHANK1_ENST00000359082.3_Frame_Shift_Del_p.Q860fs|SHANK1_ENST00000391813.1_Frame_Shift_Del_p.Q256fs|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.Q877fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	869					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TAACTTGGCTGGGCACGGTGG	0.562																																							uc002psx.1		NA																	0				large_intestine(2)	2						c.(2605-2607)CAGfs		SH3 and multiple ankyrin repeat domains 1							78.0	65.0	70.0					19																	51175344		2203	4300	6503	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51175344delG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2605delC	19.37:g.51175344delG	ENSP00000293441:p.Gln869fs					SHANK1_uc002psw.1_Frame_Shift_Del_p.Q253fs	p.Q869fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	21	2624	-		all_neural(266;0.057)	869					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.2605delC	CCDS12799.1																																																																																				0.562	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		11	8	NA	NA	NA	NA	NA	11	8	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52941322	52941322	+	Frame_Shift_Del	DEL	C	C	-	rs376789531		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:52941322delC	ENST00000332323.6	+	4	709	c.648delC	c.(646-648)aacfs	p.N216fs	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Frame_Shift_Del_p.N203fs|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GCCTTACTAACCGTCAAGTAA	0.388																																							uc002pzk.2		NA																	0					0						c.(646-648)AACfs		zinc finger protein 534 isoform 2							104.0	92.0	96.0					19																	52941322		1568	3582	5150	SO:0001589	frameshift_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941322delC	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.648delC	19.37:g.52941322delC	ENSP00000327538:p.Asn216fs					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Frame_Shift_Del_p.N203fs	p.N216fs	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	709	+			216			C2H2-type 1; degenerate.		Q76KX9	Frame_Shift_Del	DEL	ENST00000332323.6	37	c.648delC	CCDS46165.1																																																																																				0.388	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		13	44	NA	NA	NA	NA	NA	13	44	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54758761	54758762	+	Frame_Shift_Ins	INS	-	-	G	rs149797743	byFrequency	TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:54758761_54758762insG	ENST00000316219.5	-	6	1198_1199	c.1091_1092insC	c.(1090-1092)ccgfs	p.P364fs	LILRB5_ENST00000345866.6_Frame_Shift_Ins_p.P264fs|LILRB5_ENST00000449561.2_Frame_Shift_Ins_p.P364fs|LILRB5_ENST00000450632.1_Frame_Shift_Ins_p.P355fs	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	364	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.P364Q(1)|p.P355Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGGC	0.55																																							uc002qex.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1090-1092)CCGfs		leukocyte immunoglobulin-like receptor,																																				SO:0001589	frameshift_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758761_54758762insG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1092dupC	19.37:g.54758766_54758766dupG	ENSP00000320390:p.Pro364fs					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Frame_Shift_Ins_p.P355fs|LILRB5_uc002qey.2_Frame_Shift_Ins_p.P364fs|LILRB5_uc002qez.2_Frame_Shift_Ins_p.P264fs|LILRB5_uc002qfa.1_Frame_Shift_Ins_p.P254fs|LILRB5_uc010yes.1_RNA	p.P364fs	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1202_1203	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		364			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Frame_Shift_Ins	INS	ENST00000316219.5	37	c.1091_1092insC	CCDS12885.1																																																																																				0.550	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			12	43	NA	NA	NA	NA	NA	12	43	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55815133	55815133	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr19:55815133delG	ENST00000309383.1	+	12	1502	c.1225delG	c.(1225-1227)gggfs	p.G412fs	BRSK1_ENST00000326848.7_Frame_Shift_Del_p.G107fs|BRSK1_ENST00000590333.1_Frame_Shift_Del_p.G428fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	412					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CACCGATGCCGGGGGTGGTGG	0.662																																							uc002qkg.2		NA																	0				ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1225-1227)GGGfs		BR serine/threonine kinase 1							49.0	56.0	53.0					19																	55815133		2203	4300	6503	SO:0001589	frameshift_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55815133delG	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1225delG	19.37:g.55815133delG	ENSP00000310649:p.Gly412fs					BRSK1_uc002qkf.2_Frame_Shift_Del_p.G425fs|BRSK1_uc002qkh.2_Frame_Shift_Del_p.G104fs	p.G409fs	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	12	1502	+		Renal(1328;0.245)	409					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Frame_Shift_Del	DEL	ENST00000309383.1	37	c.1225delG	CCDS12921.1																																																																																				0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		13	37	NA	NA	NA	NA	NA	13	37	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1667450	1667451	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:1667450_1667451insC	ENST00000252804.4	-	12	1543_1544	c.1493_1494insG	c.(1492-1494)ggcfs	p.G498fs	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	498	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATTCGTACTGGCCCTGGTCGTG	0.619																																							uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(1492-1494)GGCfs		peroxidasin precursor																																				SO:0001589	frameshift_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1667450_1667451insC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1494dupG	2.37:g.1667453_1667453dupC	ENSP00000252804:p.Gly498fs					PXDN_uc002qxb.1_Frame_Shift_Ins_p.G498fs	p.G498fs	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	12	1557_1558	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	498			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Ins	INS	ENST00000252804.4	37	c.1493_1494insG	CCDS46221.1																																																																																				0.619	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		8	102	NA	NA	NA	NA	NA	8	102	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50724570	50724571	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:50724570_50724571insT	ENST00000406316.2	-	14	4255_4256	c.2779_2780insA	c.(2779-2781)atgfs	p.M927fs	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000406859.3_Frame_Shift_Ins_p.M927fs|NRXN1_ENST00000404971.1_Frame_Shift_Ins_p.M967fs|NRXN1_ENST00000402717.3_Frame_Shift_Ins_p.M919fs|NRXN1_ENST00000401669.2_Frame_Shift_Ins_p.M927fs|NRXN1_ENST00000405472.3_Frame_Shift_Ins_p.M919fs	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	927	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAAAGATGCATAGAAGTGTAG	0.396																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(2899-2901)ATGfs		neurexin 1 isoform alpha2 precursor																																				SO:0001589	frameshift_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724570_50724571insT	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2780dupA	2.37:g.50724571_50724571dupT	ENSP00000384311:p.Met927fs					NRXN1_uc002rxb.3_Frame_Shift_Ins_p.M599fs|NRXN1_uc002rxe.3_Frame_Shift_Ins_p.M927fs|NRXN1_uc002rxc.1_RNA	p.M967fs	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4376_4377	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Frame_Shift_Ins	INS	ENST00000406316.2	37	c.2899_2900insA	CCDS54360.1																																																																																				0.396	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			11	28	NA	NA	NA	NA	NA	11	28	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530420	125530421	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:125530420_125530421insT	ENST00000431078.1	+	17	2939_2940	c.2575_2576insT	c.(2575-2577)gtgfs	p.V859fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	859	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V859A(1)		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)		GAATGGTCCTGTGGAGCTTGTA	0.51																																							uc002tno.2		NA																	1	Substitution - Missense(1)	p.V859A(1)	ovary(1)	ovary(10)	10						c.(2575-2577)GTGfs		contactin associated protein-like 5 precursor																																				SO:0001589	frameshift_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530420_125530421insT	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.2576dupT	2.37:g.125530421_125530421dupT	ENSP00000399013:p.Val859fs					CNTNAP5_uc010flu.2_Frame_Shift_Ins_p.V860fs	p.V859fs	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2939_2940	+			859			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Ins	INS	ENST00000431078.1	37	c.2575_2576insT	CCDS46401.1																																																																																				0.510	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			16	75	NA	NA	NA	NA	NA	16	75	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	143973977	143973978	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:143973977_143973978insA	ENST00000295095.6	+	4	426_427	c.259_260insA	c.(259-261)caafs	p.Q87fs	ARHGAP15_ENST00000409869.1_Frame_Shift_Ins_p.Q87fs	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGGTTATCTGCAAAAAGCTAAA	0.312																																							uc002tvm.3		NA																	0				ovary(1)|skin(1)	2						c.(259-261)CAAfs		ARHGAP15																																				SO:0001589	frameshift_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143973977_143973978insA	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.264dupA	2.37:g.143973982_143973982dupA	ENSP00000295095:p.Gln87fs					ARHGAP15_uc010zbl.1_Frame_Shift_Ins_p.Q87fs	p.Q87fs	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	4	410_411	+			87			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Frame_Shift_Ins	INS	ENST00000295095.6	37	c.259_260insA	CCDS2184.1																																																																																				0.312	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		17	78	NA	NA	NA	NA	NA	17	78	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145187395	145187395	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:145187395delC	ENST00000558170.2	-	3	1456	c.272delG	c.(271-273)ggtfs	p.G92fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.G92fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.G92fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.G92fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	92					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCCACTCCACCCTCCCTTAT	0.517																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9	GRCh37	CD013868	ZEB2	D		c.(271-273)GGTfs		zinc finger homeobox 1b							159.0	142.0	148.0					2																	145187395		2203	4300	6503	SO:0001589	frameshift_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145187395delC	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.272delG	2.37:g.145187395delC	ENSP00000454157:p.Gly92fs					ZEB2_uc002tvv.2_Frame_Shift_Del_p.G86fs|ZEB2_uc010zbm.1_Frame_Shift_Del_p.G86fs|ZEB2_uc010fnp.2_Frame_Shift_Del_p.G86fs|ZEB2_uc010fnq.1_Frame_Shift_Del_p.G120fs|ZEB2_uc002tvw.2_Frame_Shift_Del_p.G86fs	p.G91fs	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	3	752	-			91					A0JP09|B7Z2P2|F5H814|Q9UED1	Frame_Shift_Del	DEL	ENST00000558170.2	37	c.272delG	CCDS2186.1																																																																																				0.517	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		15	79	NA	NA	NA	NA	NA	15	79	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102600	168102600	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:168102600delG	ENST00000409195.1	+	9	4787	c.4698delG	c.(4696-4698)cagfs	p.Q1566fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.Q1566fs|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.Q1344fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1391					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGTTATCCAGGCTCCTGGAA	0.353																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(4696-4698)CAGfs		xin actin-binding repeat containing 2 isoform 1							47.0	45.0	45.0					2																	168102600		1820	4075	5895	SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102600delG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4698delG	2.37:g.168102600delG	ENSP00000386840:p.Gln1566fs					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Del_p.Q1391fs|XIRP2_uc010fpq.2_Frame_Shift_Del_p.Q1344fs|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.Q1566fs	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4716	+			1391					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	ENST00000409195.1	37	c.4698delG	CCDS42769.1																																																																																				0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		16	31	NA	NA	NA	NA	NA	16	31	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219900384	219900384	+	Frame_Shift_Del	DEL	G	G	-	rs368785817		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr2:219900384delG	ENST00000341552.5	-	5	443	c.360delC	c.(358-360)cccfs	p.P120fs	CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P120fs|CCDC108_ENST00000324264.6_Frame_Shift_Del_p.P55fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P120fs|CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P55fs|CCDC108_ENST00000295729.2_Frame_Shift_Del_p.P55fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P109fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	120						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTTGCGGGCTGTTCAG	0.567																																							uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(358-360)CCCfs		coiled-coil domain containing 108 isoform 1							86.0	76.0	79.0					2																	219900384		2203	4300	6503	SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219900384delG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.360delC	2.37:g.219900384delG	ENSP00000340776:p.Pro120fs					CCDC108_uc010zkp.1_Frame_Shift_Del_p.P109fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.P55fs|CCDC108_uc002vjn.2_Frame_Shift_Del_p.P55fs	p.P120fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	444	-		Renal(207;0.0915)	120					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.360delC	CCDS2430.2																																																																																				0.567	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		14	27	NA	NA	NA	NA	NA	14	27	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34809839	34809840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr20:34809839_34809840insG	ENST00000338074.2	+	20	2654_2655	c.2493_2494insG	c.(2494-2496)gggfs	p.G832fs	EPB41L1_ENST00000441639.1_Frame_Shift_Ins_p.G730fs|EPB41L1_ENST00000373946.3_Frame_Shift_Ins_p.G652fs|EPB41L1_ENST00000202028.5_Frame_Shift_Ins_p.G730fs|EPB41L1_ENST00000373950.2_Frame_Shift_Ins_p.G723fs|EPB41L1_ENST00000373941.1_Frame_Shift_Ins_p.G831fs	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	832	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCATCATTACTGGGGATGAAGA	0.54																																							uc002xfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2491-2496)ACTGGGfs		erythrocyte membrane protein band 4.1-like 1																																				SO:0001589	frameshift_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34809839_34809840insG	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2497dupG	20.37:g.34809843_34809843dupG	ENSP00000337168:p.Gly832fs					EPB41L1_uc002xeu.2_Frame_Shift_Ins_p.T729fs|EPB41L1_uc002xev.2_Frame_Shift_Ins_p.T830fs|EPB41L1_uc002xew.2_Frame_Shift_Ins_p.T722fs|EPB41L1_uc002xex.2_Frame_Shift_Ins_p.T651fs|EPB41L1_uc002xey.2_Frame_Shift_Ins_p.T581fs|EPB41L1_uc002xez.2_Frame_Shift_Ins_p.T729fs|EPB41L1_uc010gfq.2_Frame_Shift_Ins_p.T929fs	p.T831fs	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			20	2664_2665	+	Breast(12;0.0239)		831_832			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Frame_Shift_Ins	INS	ENST00000338074.2	37	c.2493_2494insG	CCDS13271.1																																																																																				0.540	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		49	67	NA	NA	NA	NA	NA	49	67	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194910	28194912	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:28194910_28194912delTGT	ENST00000302326.4	-	1	2574_2576	c.1620_1622delACA	c.(1618-1623)caacag>cag	p.540_541QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	540	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ttgctgttgctgttgctgctgct	0.655			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(1618-1623)CAACAG>CAG		meningioma  1				259,3347		25,209,1569						1.4	1.0		dbSNP_130	5	283,7069		26,231,3419	no	coding	MN1	NM_002430.2		51,440,4988	A1A1,A1R,RR		3.8493,7.1825,4.9462				542,10416				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194910_28194912delTGT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1620_1622delACA	22.37:g.28194910_28194912delTGT	ENSP00000304956:p.Gln550del						p.540_541QQ>Q	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	2575_2577	-			540_541			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1620_1622delACA	CCDS42998.1																																																																																				0.655	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	3	NA	NA	NA	NA	NA	3	3	---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077634	41077634	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr22:41077634delC	ENST00000249016.4	+	2	1667	c.971delC	c.(970-972)accfs	p.T324fs	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Frame_Shift_Del_p.T198fs	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	324					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						AAGAGGGTGACCCGCACAGCC	0.627																																							uc003ayz.2		NA																	0					0						c.(970-972)ACCfs		G protein-coupled receptor 24							90.0	73.0	78.0					22																	41077634		2203	4300	6503	SO:0001589	frameshift_variant	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077634delC		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.971delC	22.37:g.41077634delC	ENSP00000249016:p.Thr324fs					MCHR1_uc003aza.2_Frame_Shift_Del_p.T213fs|uc003azb.1_RNA	p.T324fs	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	1239	+			324			Helical; Name=6; (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Frame_Shift_Del	DEL	ENST00000249016.4	37	c.971delC	CCDS14004.1																																																																																				0.627	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		7	22	NA	NA	NA	NA	NA	7	22	---	---	---	---
C3orf20	84077	broad.mit.edu	37	3	14770100	14770100	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:14770100delA	ENST00000253697.3	+	12	2297	c.1845delA	c.(1843-1845)tcafs	p.S615fs	C3orf20_ENST00000435614.1_Frame_Shift_Del_p.S493fs|C3orf20_ENST00000412910.1_Frame_Shift_Del_p.S493fs	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	615						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGGAATCCTCAATTGCAGAGA	0.502																																							uc003byy.2		NA																	0				ovary(3)|skin(1)	4						c.(1843-1845)TCAfs		hypothetical protein LOC84077							97.0	89.0	92.0					3																	14770100		2203	4300	6503	SO:0001589	frameshift_variant	84077					cytoplasm|integral to membrane		g.chr3:14770100delA	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1845delA	3.37:g.14770100delA	ENSP00000253697:p.Ser615fs					C3orf20_uc003byz.2_Frame_Shift_Del_p.S493fs|C3orf20_uc003bza.2_Frame_Shift_Del_p.S493fs|C3orf20_uc003bzb.1_Frame_Shift_Del_p.S116fs	p.S615fs	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			12	2249	+			615					Q7L0U6|Q8NCP2|Q9H0I7	Frame_Shift_Del	DEL	ENST00000253697.3	37	c.1845delA	CCDS33706.1																																																																																				0.502	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		7	34	NA	NA	NA	NA	NA	7	34	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47382105	47382105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:47382105delG	ENST00000232766.5	+	8	1185	c.1165delG	c.(1165-1167)gggfs	p.G390fs	KLHL18_ENST00000455924.2_Frame_Shift_Del_p.G278fs	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	390										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTACGTCTGTGGGGGCTACGA	0.577																																							uc003crd.2		NA																	0					0						c.(1165-1167)GGGfs		kelch-like 18							205.0	175.0	185.0					3																	47382105		2203	4300	6503	SO:0001589	frameshift_variant	23276							g.chr3:47382105delG	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1165delG	3.37:g.47382105delG	ENSP00000232766:p.Gly390fs					KLHL18_uc011bav.1_Frame_Shift_Del_p.G277fs	p.G389fs	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	8	1291	+		Acute lymphoblastic leukemia(5;0.164)	389			Kelch 3.		A8K612|Q7Z3E8|Q8N125	Frame_Shift_Del	DEL	ENST00000232766.5	37	c.1165delG	CCDS33749.1																																																																																				0.577	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		21	95	NA	NA	NA	NA	NA	21	95	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122641169	122641170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr3:122641169_122641170insT	ENST00000357599.3	-	11	1783_1784	c.1397_1398insA	c.(1396-1398)cagfs	p.Q466fs	SEMA5B_ENST00000451055.2_Frame_Shift_Ins_p.Q520fs|SEMA5B_ENST00000195173.4_Frame_Shift_Ins_p.Q466fs	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	466	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCACGCTGTCCTGGGTGACACA	0.649																																							uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1396-1398)CAGfs		semaphorin 5B isoform 1																																				SO:0001589	frameshift_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122641169_122641170insT	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1398dupA	3.37:g.122641170_122641170dupT	ENSP00000350215:p.Gln466fs					SEMA5B_uc011bju.1_Frame_Shift_Ins_p.Q408fs|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Frame_Shift_Ins_p.Q466fs|SEMA5B_uc010hro.1_Frame_Shift_Ins_p.Q408fs|SEMA5B_uc010hrp.1_RNA	p.Q466fs	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	11	1701_1702	-			466			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Frame_Shift_Ins	INS	ENST00000357599.3	37	c.1397_1398insA	CCDS35491.1																																																																																				0.649	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		10	18	NA	NA	NA	NA	NA	10	18	---	---	---	---
FAM173B	134145	broad.mit.edu	37	5	10239355	10239356	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:10239355_10239356insA	ENST00000511437.1	-	2	141_142	c.129_130insT	c.(127-132)cttgtgfs	p.V44fs	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Frame_Shift_Ins_p.V44fs	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	44						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTGCCACCCACAAGCCCAGTAA	0.48																																							uc003jeo.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(127-132)CTTGTGfs		hypothetical protein LOC134145																																				SO:0001589	frameshift_variant	134145					integral to membrane		g.chr5:10239355_10239356insA		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.130dupT	5.37:g.10239357_10239357dupA	ENSP00000422338:p.Val44fs					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Frame_Shift_Ins_p.L43fs	p.L43fs	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			2	158_159	-			43_44			Helical; (Potential).		B4DT41|B4DXK2|E9PBZ4	Frame_Shift_Ins	INS	ENST00000511437.1	37	c.129_130insT	CCDS43301.1																																																																																				0.480	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		23	254	NA	NA	NA	NA	NA	23	254	---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10461430	10461431	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:10461430_10461431insT	ENST00000503804.1	+	5	1073_1074	c.552_553insT	c.(553-555)ttgfs	p.L185fs	ROPN1L_ENST00000274134.4_Frame_Shift_Ins_p.L185fs|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	185					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATGTGTCTCCCTTGGAGACGGA	0.505																																							uc003jex.3		NA																	0				ovary(1)	1						c.(550-555)CCCTTGfs		ropporin 1-like																																				SO:0001589	frameshift_variant	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10461430_10461431insT	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.554dupT	5.37:g.10461432_10461432dupT	ENSP00000421405:p.Leu185fs						p.P184fs	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			4	823_824	+			184_185					D3DTC9|Q9BZX0	Frame_Shift_Ins	INS	ENST00000503804.1	37	c.552_553insT	CCDS3879.1																																																																																				0.505	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		53	291	NA	NA	NA	NA	NA	53	291	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13701425	13701426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:13701425_13701426insA	ENST00000265104.4	-	77	13562_13563	c.13458_13459insT	c.(13456-13461)tttaacfs	p.N4487fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4487					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCTGGGGGTTAAAAAAACCCG	0.426									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	GRCh37	CI065823	DNAH5	I		c.(13456-13461)TTTAACfs		dynein, axonemal, heavy chain 5				3,4263		0,3,2130						5.8	1.0			83	3,8251		0,3,4124	no	frameshift	DNAH5	NM_001369.2		0,6,6254	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001589	frameshift_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13701425_13701426insA	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13459dupT	5.37:g.13701432_13701432dupA	ENSP00000265104:p.Asn4487fs					DNAH5_uc003jfc.2_Frame_Shift_Ins_p.F654fs	p.F4486fs	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			77	13500_13501	-	Lung NSC(4;0.00476)		4486_4487					Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	c.13458_13459insT	CCDS3882.1																																																																																				0.426	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		18	206	NA	NA	NA	NA	NA	18	206	---	---	---	---
GPR150	285601	broad.mit.edu	37	5	94956920	94956920	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr5:94956920delC	ENST00000380007.2	+	1	1139	c.941delC	c.(940-942)gccfs	p.A314fs		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		TACTTTGCCGCCCGGCTGGCG	0.741																																							uc003kle.1		NA																	0					0						c.(940-942)GCCfs		G protein-coupled receptor 150							3.0	5.0	5.0					5																	94956920		1853	3783	5636	SO:0001589	frameshift_variant	285601					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:94956920delC	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.941delC	5.37:g.94956920delC	ENSP00000369344:p.Ala314fs						p.A314fs	NM_199243	NP_954713	Q8NGU9	GP150_HUMAN		all cancers(79;1.82e-16)	1	941	+		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)	314			Helical; Name=6; (Potential).			Frame_Shift_Del	DEL	ENST00000380007.2	37	c.941delC	CCDS4074.1																																																																																				0.741	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			3	3	NA	NA	NA	NA	NA	3	3	---	---	---	---
TUBB2B	347733	broad.mit.edu	37	6	3225019	3225020	+	Frame_Shift_Ins	INS	-	-	C			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:3225019_3225020insC	ENST00000259818.7	-	4	1494_1495	c.1303_1304insG	c.(1303-1305)gagfs	p.E435fs	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	435					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CTCCTCGAACTCCCCTTGTTCG	0.653																																							uc003mvg.2		NA																	0				large_intestine(1)	1						c.(1303-1305)GAGfs		tubulin, beta 2B																																				SO:0001589	frameshift_variant	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3225019_3225020insC	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.1304dupG	6.37:g.3225023_3225023dupC	ENSP00000259818:p.Glu435fs					TUBB2B_uc010jnj.2_Frame_Shift_Ins_p.E398fs|TUBB2B_uc010jnk.2_Frame_Shift_Ins_p.E363fs|TUBB2B_uc003mvh.2_Frame_Shift_Ins_p.E408fs|uc011dhu.1_RNA	p.E435fs	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN			4	1494_1495	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	435					A8K068	Frame_Shift_Ins	INS	ENST00000259818.7	37	c.1303_1304insG	CCDS4485.1																																																																																				0.653	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		11	57	NA	NA	NA	NA	NA	11	57	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80715639	80715639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr6:80715639delT	ENST00000369798.2	+	2	190	c.79delT	c.(79-81)tttfs	p.F27fs	TTK_ENST00000509894.1_Frame_Shift_Del_p.F27fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.F27fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	27					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAAAATAAGTTTAAAAATGA	0.303																																							uc003pjc.2		NA																	0				ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(79-81)TTTfs		TTK protein kinase							73.0	81.0	78.0					6																	80715639		2203	4297	6500	SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80715639delT		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.79delT	6.37:g.80715639delT	ENSP00000358813:p.Phe27fs					TTK_uc003pjb.3_Frame_Shift_Del_p.F27fs	p.F27fs	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	2	153	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	27					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	ENST00000369798.2	37	c.79delT	CCDS4993.1																																																																																				0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			24	23	NA	NA	NA	NA	NA	24	23	---	---	---	---
CCDC126	90693	broad.mit.edu	37	7	23651005	23651005	+	Frame_Shift_Del	DEL	T	T	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:23651005delT	ENST00000307471.3	+	3	528	c.71delT	c.(70-72)attfs	p.I24fs	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Frame_Shift_Del_p.I24fs|CCDC126_ENST00000409765.1_Frame_Shift_Del_p.I24fs	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	24					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						TTTGGACTCATTTGGGGATTG	0.338																																							uc003swl.2		NA																	0				ovary(1)|skin(1)	2						c.(70-72)ATTfs		coiled-coil domain containing 126 precursor							123.0	115.0	117.0					7																	23651005		2203	4300	6503	SO:0001589	frameshift_variant	90693					extracellular region		g.chr7:23651005delT	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.71delT	7.37:g.23651005delT	ENSP00000304355:p.Ile24fs					CCDC126_uc003swm.2_Frame_Shift_Del_p.I24fs|CCDC126_uc003swn.2_Frame_Shift_Del_p.I24fs	p.I24fs	NM_138771	NP_620126	Q96EE4	CC126_HUMAN			3	528	+			24					A8K1J6|Q6UWP1|Q75MQ6	Frame_Shift_Del	DEL	ENST00000307471.3	37	c.71delT	CCDS5384.1																																																																																				0.338	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		7	47	NA	NA	NA	NA	NA	7	47	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99123799	99123800	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:99123799_99123800insT	ENST00000394170.2	+	6	1387_1388	c.1136_1137insT	c.(1135-1140)tgtgggfs	p.G380fs	ZKSCAN5_ENST00000326775.5_Frame_Shift_Ins_p.G380fs|ZKSCAN5_ENST00000451158.1_Frame_Shift_Ins_p.G380fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCGGAGAATGTGGGAAGAGCT	0.535																																							uc003uqv.2		NA																	0				ovary(1)	1						c.(1135-1137)TGTfs		zinc finger with KRAB and SCAN domains 5																																				SO:0001589	frameshift_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123799_99123800insT	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1137dupT	7.37:g.99123800_99123800dupT	ENSP00000377725:p.Gly380fs					ZKSCAN5_uc010lfx.2_Frame_Shift_Ins_p.C379fs|ZKSCAN5_uc003uqw.2_Frame_Shift_Ins_p.C379fs|ZKSCAN5_uc003uqx.2_Frame_Shift_Ins_p.C306fs|ZKSCAN5_uc003uqy.2_Frame_Shift_Ins_p.C115fs	p.C379fs	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			6	1260_1261	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		379			C2H2-type 2.		A4D280|D6W5S9	Frame_Shift_Ins	INS	ENST00000394170.2	37	c.1136_1137insT	CCDS5667.1																																																																																				0.535	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		9	130	NA	NA	NA	NA	NA	9	130	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136701006	136701007	+	Frame_Shift_Ins	INS	-	-	T	rs202195493		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr7:136701006_136701007insT	ENST00000445907.2	+	3	1922_1923	c.1394_1395insT	c.(1393-1398)acaaggfs	p.R466fs	CHRM2_ENST00000401861.1_Frame_Shift_Ins_p.R466fs|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Frame_Shift_Ins_p.R466fs|CHRM2_ENST00000453373.1_Frame_Shift_Ins_p.R466fs|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Frame_Shift_Ins_p.R466fs|CHRM2_ENST00000320658.5_Frame_Shift_Ins_p.R466fs|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	466					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATAGGCGCTACAAGGTAAAATA	0.406																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1393-1395)ACAfs		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)																																			SO:0001589	frameshift_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136701006_136701007insT		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	Exception_encountered	7.37:g.136701006_136701007insT	ENSP00000399745:p.Arg466fs					CHRM2_uc003vtg.1_Frame_Shift_Ins_p.T465fs|CHRM2_uc003vtj.1_Frame_Shift_Ins_p.T465fs|CHRM2_uc003vtk.1_Frame_Shift_Ins_p.T465fs|CHRM2_uc003vtl.1_Frame_Shift_Ins_p.T465fs|CHRM2_uc003vtm.1_Frame_Shift_Ins_p.T465fs|CHRM2_uc003vti.1_Frame_Shift_Ins_p.T465fs|CHRM2_uc003vto.1_Frame_Shift_Ins_p.T465fs|CHRM2_uc003vtn.1_Frame_Shift_Ins_p.T465fs|uc003vtp.1_Intron	p.T465fs	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	2017_2018	+			465			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Frame_Shift_Ins	INS	ENST00000445907.2	37	c.1394_1395insT	CCDS5843.1																																																																																				0.406	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			30	51	NA	NA	NA	NA	NA	30	51	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2949144	2949144	+	Frame_Shift_Del	DEL	C	C	-	rs377636124		TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr8:2949144delC	ENST00000520002.1	-	49	7737	c.7182delG	c.(7180-7182)gggfs	p.G2394fs	CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G2393fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G2394fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G2394fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G2394fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G2393fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2394	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTATGATTCCCACTTAAGA	0.408																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(7180-7182)GGGfs		CUB and Sushi multiple domains 1 precursor							97.0	89.0	92.0					8																	2949144		1847	4088	5935	SO:0001589	frameshift_variant	64478					integral to membrane		g.chr8:2949144delC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7182delG	8.37:g.2949144delC	ENSP00000430733:p.Gly2394fs					CSMD1_uc011kwj.1_Frame_Shift_Del_p.G1723fs|CSMD1_uc010lrg.2_Frame_Shift_Del_p.G462fs	p.G2394fs	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	48	7572	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2394			CUB 14.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37	c.7182delG																																																																																					0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	13	NA	NA	NA	NA	NA	6	13	---	---	---	---
C9orf172	389813	broad.mit.edu	37	9	139740876	139740876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chr9:139740876delC	ENST00000436881.1	+	1	2010	c.2010delC	c.(2008-2010)tgcfs	p.C670fs	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	670										endometrium(2)|large_intestine(1)|lung(6)	9						ATGCGCGCTGCCGGCGCACCG	0.701																																							uc011meh.1		NA																	0					0						c.(2008-2010)TGCfs		chromosome 9 open reading frame 172							19.0	23.0	22.0					9																	139740876		2042	4127	6169	SO:0001589	frameshift_variant	389813							g.chr9:139740876delC		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2010delC	9.37:g.139740876delC	ENSP00000412388:p.Cys670fs					PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	p.C670fs	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	2010	+			670						Frame_Shift_Del	DEL	ENST00000436881.1	37	c.2010delC	CCDS48059.1																																																																																				0.701	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		10	24	NA	NA	NA	NA	NA	10	24	---	---	---	---
PIM2	11040	broad.mit.edu	37	X	48772296	48772296	+	Splice_Site	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:48772296delC	ENST00000376509.4	-	4	785		c.e4+1		PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase						apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						AGAAGCCTTACCATCAAAGTC	0.488																																							uc004dls.2		NA																	0				lung(3)|stomach(1)	4						c.e4+1		serine/threonine protein kinase pim-2							44.0	38.0	40.0					X																	48772296		2203	4300	6503	SO:0001630	splice_region_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772296delC	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.595+1G>-	X.37:g.48772296delC							p.G199_splice	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			4	897	-								A8K4G6|Q99739	Splice_Site	DEL	ENST00000376509.4	37	c.595_splice	CCDS14312.1																																																																																				0.488	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		Intron	8	29	NA	NA	NA	NA	NA	8	29	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99657667	99657667	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7039-01A-11D-1945-08	TCGA-95-7039-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d834605-102b-4b3a-a2fa-b26525c77acf	fd2074ee-309f-48f9-a122-92a5bb8ee1f2	g.chrX:99657667delC	ENST00000373034.4	-	3	4146	c.2471delG	c.(2470-2472)ggcfs	p.G824fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.G777fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.G777fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	824					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGGCGGCAGCCCAGGGGCAG	0.547																																							uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(2470-2472)GGCfs		protocadherin 19 isoform b							68.0	70.0	70.0					X																	99657667		2030	4159	6189	SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657667delC	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2471delG	X.37:g.99657667delC	ENSP00000362125:p.Gly824fs					PCDH19_uc004efw.3_Frame_Shift_Del_p.G777fs|PCDH19_uc004efx.3_Frame_Shift_Del_p.G777fs	p.G824fs	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			3	4147	-			824			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	c.2471delG	CCDS55462.1																																																																																				0.547	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		11	8	NA	NA	NA	NA	NA	11	8	---	---	---	---
