#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZZZ3	26009	broad.mit.edu	37	1	78099026	78099026	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:78099026C>T	ENST00000370801.3	-	5	489	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	5					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACGAGTAGATCGGGAAGCAGC	0.403																																						uc001dhq.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(13-15)CGA>CAA		zinc finger, ZZ-type containing 3							38.0	40.0	39.0					1																	78099026		2198	4294	6492	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78099026C>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.14G>A	1.37:g.78099026C>T	ENSP00000359837:p.Arg5Gln					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R5Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R5Q	p.R5Q	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	490	-			5					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.14G>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880664	0.72294	.	.	ENSG00000036549	ENST00000370801;ENST00000433749;ENST00000414381	.	.	.	5.57	3.66	0.41972	.	0.072490	0.56097	D	0.000023	T	0.59689	0.2212	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.998;0.98;0.988	P;B;P	0.62184	0.899;0.395;0.599	T	0.65573	-0.6135	9	0.87932	D	0	.	12.9631	0.58470	0.1297:0.7459:0.1244:0.0	.	5;5;5	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Q	5	.	ENSP00000359837:R5Q	R	-	2	0	ZZZ3	77871614	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	0.793000	0.33875	-0.182000	0.12963	CGA		0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		4	28	0	0	0	0	4	28				
PTBP2	58155	broad.mit.edu	37	1	97272478	97272478	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:97272478C>T	ENST00000426398.2	+	11	1178	c.1135C>T	c.(1135-1137)Cta>Tta	p.L379L	PTBP2_ENST00000370198.1_Silent_p.L384L|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.L379L|PTBP2_ENST00000394184.3_Silent_p.L395L|PTBP2_ENST00000370197.1_Silent_p.L384L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	379	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGACAGCGCTCTAATACAGAT	0.348																																						uc001drq.2		NA																	0					0						c.(1135-1137)CTA>TTA		polypyrimidine tract binding protein 2							134.0	132.0	132.0					1																	97272478		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97272478C>T	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1135C>T	1.37:g.97272478C>T						PTBP2_uc001drn.2_Silent_p.L384L|PTBP2_uc001dro.2_Silent_p.L379L|PTBP2_uc010otz.1_Silent_p.L395L|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.L327L|PTBP2_uc001drr.2_Silent_p.L384L|PTBP2_uc010oua.1_Silent_p.L387L|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR	p.L379L	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	11	1381	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	379			RRM 3.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.1135C>T	CCDS754.1																																																																																				0.348	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			4	52	0	0	0	0	4	52				
OLFM3	118427	broad.mit.edu	37	1	102270200	102270200	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:102270200A>G	ENST00000338858.5	-	6	1030	c.1031T>C	c.(1030-1032)tTc>tCc	p.F344S	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.F324S|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	344	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)		GATGTCAGAGAATCCACCCCA	0.453																																						uc001duf.2		NA																	0				ovary(2)|skin(1)	3						c.(1030-1032)TTC>TCC		olfactomedin 3							90.0	78.0	82.0					1																	102270200		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270200A>G	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.1031T>C	1.37:g.102270200A>G	ENSP00000345192:p.Phe344Ser					OLFM3_uc001dug.2_Missense_Mutation_p.F324S|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.F249S|OLFM3_uc001due.2_RNA	p.F344S	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1102	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	344			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.1031T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.77|10.77	1.444743|1.444743	0.25987|0.25987	.|.	.|.	ENSG00000118733|ENSG00000118733	ENST00000370103;ENST00000338858|ENST00000424771	D;D|.	0.88277|.	-2.36;-2.36|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Olfactomedin-like (3);|.	0.137454|.	0.64402|.	D|.	0.000002|.	T|T	0.26048|0.26048	0.0635|0.0635	N|N	0.05031|0.05031	-0.125|-0.125	0.80722|0.80722	D|D	1|1	B;B|.	0.27286|.	0.001;0.174|.	B;B|.	0.31751|.	0.012;0.135|.	T|T	0.40098|0.40098	-0.9581|-0.9581	10|6	0.22109|0.87932	T|D	0.4|0	.|.	11.2063|11.2063	0.48771|0.48771	0.8631:0.0:0.0:0.1369|0.8631:0.0:0.0:0.1369	.|.	324;344|.	Q5T3V6;Q96PB7|.	.;NOE3_HUMAN|.	S|P	324;344|195	ENSP00000359121:F324S;ENSP00000345192:F344S|.	ENSP00000345192:F344S|ENSP00000407686:S195P	F|S	-|-	2|1	0|0	OLFM3|OLFM3	102042788|102042788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.423000|3.423000	0.52756|0.52756	2.202000|2.202000	0.70862|0.70862	0.528000|0.528000	0.53228|0.53228	TTC|TCT		0.453	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			13	37	0	0	0	0	13	37				
CELSR2	1952	broad.mit.edu	37	1	109812137	109812137	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:109812137G>T	ENST00000271332.3	+	21	6965	c.6904G>T	c.(6904-6906)Gtc>Ttc	p.V2302F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2302					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)		GGACAAACCCGTCACGGTGCA	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(6904-6906)GTC>TTC		cadherin EGF LAG seven-pass G-type receptor 2							72.0	67.0	69.0					1																	109812137		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.chr1:109812137G>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.6904G>T	1.37:g.109812137G>T	ENSP00000271332:p.Val2302Phe						p.V2302F	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)	21	6965	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2302			Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6904G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393833	0.42410	.	.	ENSG00000143126	ENST00000271332	T	0.73897	-0.79	4.41	3.48	0.39840	.	.	.	.	.	T	0.71375	0.3332	M	0.87547	2.89	0.29194	N	0.875666	P	0.50369	0.934	P	0.50590	0.645	T	0.68093	-0.5500	9	0.87932	D	0	.	6.1019	0.20051	0.2448:0.1425:0.6127:0.0	.	2302	Q9HCU4	CELR2_HUMAN	F	2302	ENSP00000271332:V2302F	ENSP00000271332:V2302F	V	+	1	0	CELSR2	109613660	0.991000	0.36638	0.810000	0.32431	0.698000	0.40448	2.582000	0.46085	0.511000	0.28236	-1.598000	0.00824	GTC		0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		8	32	1	0	0.000157383	0.000180132	8	32				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						uc001end.3		NA																	4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	57	0	0	0	0	4	57				
LY9	4063	broad.mit.edu	37	1	160769743	160769743	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:160769743A>T	ENST00000263285.6	+	2	355	c.325A>T	c.(325-327)Atc>Ttc	p.I109F	LY9_ENST00000368039.2_Missense_Mutation_p.I109F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.I109F|LY9_ENST00000368041.2_Missense_Mutation_p.I69F|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.I109F|LY9_ENST00000392203.4_Missense_Mutation_p.I109F			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	109	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGACTAGACATCACCAAGTG	0.453																																						uc001fwu.2		NA																	0				ovary(1)	1						c.(325-327)ATC>TTC		lymphocyte antigen 9 isoform a							116.0	117.0	117.0					1																	160769743		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769743A>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.325A>T	1.37:g.160769743A>T	ENSP00000263285:p.Ile109Phe					LY9_uc001fwt.2_Missense_Mutation_p.I109F|LY9_uc010pjs.1_Missense_Mutation_p.I109F|LY9_uc001fwv.2_Missense_Mutation_p.I109F|LY9_uc001fww.2_Missense_Mutation_p.I109F|LY9_uc001fwx.2_Missense_Mutation_p.I109F|LY9_uc001fwy.1_Missense_Mutation_p.I11F	p.I109F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	375	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		109			Extracellular (Potential).|Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.325A>T	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358151	0.41801	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037;ENST00000368036	T;T;T	0.64991	1.88;1.88;-0.13	4.04	-5.67	0.02444	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.762224	0.11570	U	0.550845	T	0.48696	0.1514	L	0.38649	1.16	0.09310	N	0.999998	D;D;D;D;D;D;D	0.71674	0.996;0.997;0.969;0.995;0.993;0.997;0.998	D;P;P;P;P;P;D	0.67382	0.951;0.879;0.585;0.829;0.865;0.879;0.951	T	0.55854	-0.8075	10	0.30078	T	0.28	-6.037	13.6478	0.62292	0.2985:0.0:0.7015:0.0	.	109;69;69;109;109;109;109	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;.;LY9_HUMAN;.	F	109;109;109;109;109;69;69;11	ENSP00000342921:I109F;ENSP00000263285:I109F;ENSP00000357018:I109F	ENSP00000263285:I109F	I	+	1	0	LY9	159036367	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.777000	0.04669	-1.130000	0.02914	0.460000	0.39030	ATC		0.453	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		21	74	0	0	0	0	21	74				
TNN	63923	broad.mit.edu	37	1	175046803	175046803	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:175046803C>T	ENST00000239462.4	+	2	362	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	83					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)		AGGAACAGAACATCATCTTCA	0.617																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(247-249)AAC>AAT		tenascin N precursor							66.0	55.0	59.0					1																	175046803		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046803C>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.249C>T	1.37:g.175046803C>T						TNN_uc010pmx.1_Silent_p.N83N	p.N83N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	362	+		Breast(1374;0.000962)	83					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.249C>T	CCDS30943.1																																																																																				0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		17	50	0	0	0	0	17	50				
USH2A	7399	broad.mit.edu	37	1	215940123	215940123	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:215940123C>G	ENST00000307340.3	-	56	11333	c.10947G>C	c.(10945-10947)caG>caC	p.Q3649H	USH2A_ENST00000366943.2_Missense_Mutation_p.Q3649H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3649	Fibronectin type-III 21. {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)		TGGTGTATGGCTGGAGACCTA	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.(10945-10947)CAG>CAC		usherin isoform B							104.0	97.0	99.0					1																	215940123		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.chr1:215940123C>G	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.10947G>C	1.37:g.215940123C>G	ENSP00000305941:p.Gln3649His	HNSCC(13;0.011)					p.Q3649H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	56	11334	-			3649			Extracellular (Potential).|Fibronectin type-III 21.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10947G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190045	0.38707	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58210	0.35;0.35	5.71	4.72	0.59763	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.572811	0.13911	U	0.354244	T	0.66867	0.2833	M	0.80616	2.505	0.42982	D	0.994468	D	0.56287	0.975	P	0.55011	0.766	T	0.66775	-0.5838	10	0.44086	T	0.13	.	11.8056	0.52152	0.1819:0.7469:0.0:0.0712	.	3649	O75445	USH2A_HUMAN	H	3649	ENSP00000305941:Q3649H;ENSP00000355910:Q3649H	ENSP00000305941:Q3649H	Q	-	3	2	USH2A	214006746	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.930000	0.48924	2.685000	0.91497	0.585000	0.79938	CAG		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	50	0	0	0	0	11	50				
USH2A	7399	broad.mit.edu	37	1	216373318	216373318	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:216373318T>A	ENST00000307340.3	-	17	3848	c.3462A>T	c.(3460-3462)ttA>ttT	p.L1154F	USH2A_ENST00000366943.2_Missense_Mutation_p.L1154F|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.L1154F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1154	Fibronectin type-III 2. {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)		TGATATAACTTAAAGTCAAGT	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.(3460-3462)TTA>TTT		usherin isoform B							102.0	101.0	101.0					1																	216373318		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.chr1:216373318T>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.3462A>T	1.37:g.216373318T>A	ENSP00000305941:p.Leu1154Phe	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L1154F	p.L1154F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	3849	-			1154			Extracellular (Potential).|Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3462A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889708	0.72524	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.53423	2.49;0.62;0.62	6.02	-0.725	0.11174	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35179	N	0.003394	T	0.59376	0.2189	M	0.80028	2.48	0.44402	D	0.997317	D;D	0.89917	0.999;1.0	D;D	0.91635	0.966;0.999	T	0.63413	-0.6643	10	0.09590	T	0.72	.	8.2152	0.31507	0.0:0.3886:0.1086:0.5027	.	1154;1154	O75445-2;O75445	.;USH2A_HUMAN	F	1154	ENSP00000305941:L1154F;ENSP00000355910:L1154F;ENSP00000355909:L1154F	ENSP00000305941:L1154F	L	-	3	2	USH2A	214439941	0.137000	0.22531	0.945000	0.38365	0.979000	0.70002	-0.067000	0.11579	-0.058000	0.13177	-0.408000	0.06270	TTA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	95	0	0	0	0	16	95				
PGBD3	267004	broad.mit.edu	37	10	50724315	50724315	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr10:50724315G>A	ENST00000374127.3	-	2	1047	c.846C>T	c.(844-846)tgC>tgT	p.C282C	ERCC6-PGBD3_ENST00000447839.2_Silent_p.C750C|PGBD3_ENST00000603152.1_Silent_p.C750C|PGBD3_ENST00000508005.2_Silent_p.C282C|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Silent_p.C750C	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	282										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TAAATTGTTTGCACCCGTGAC	0.413																																						uc001jht.2		NA																	0				pancreas(1)|breast(1)|skin(1)	3						c.(844-846)TGC>TGT		hypothetical protein LOC267004							42.0	39.0	40.0					10																	50724315		2203	4300	6503	SO:0001819	synonymous_variant	267004							g.chr10:50724315G>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.846C>T	10.37:g.50724315G>A						ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.C750C|PGBD3_uc001jhu.2_Silent_p.C750C	p.C282C	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	1101	-			282					B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	c.846C>T	CCDS7230.1																																																																																				0.413	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			7	30	0	0	0	0	7	30				
DNMBP	23268	broad.mit.edu	37	10	101731794	101731794	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr10:101731794C>T	ENST00000324109.4	-	2	179	c.88G>A	c.(88-90)Gag>Aag	p.E30K	DNMBP_ENST00000342239.3_Missense_Mutation_p.E30K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	30	SH3 1. {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)		GCCAGCACCTCAATAATATCT	0.468																																						uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.(88-90)GAG>AAG		dynamin binding protein							169.0	177.0	175.0					10																	101731794		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.chr10:101731794C>T	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.88G>A	10.37:g.101731794C>T	ENSP00000315659:p.Glu30Lys						p.E30K	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	2	180	-		Colorectal(252;0.234)	30			SH3 1.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.88G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336189	0.81801	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.47177	0.85;0.85	4.76	4.76	0.60689	Src homology-3 domain (4);	0.000000	0.47852	D	0.000215	T	0.50922	0.1644	N	0.17631	0.505	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.34976	-0.9807	10	0.07175	T	0.84	-21.3824	17.9886	0.89162	0.0:1.0:0.0:0.0	.	30	Q6XZF7	DNMBP_HUMAN	K	30	ENSP00000344914:E30K;ENSP00000315659:E30K	ENSP00000315659:E30K	E	-	1	0	DNMBP	101721784	1.000000	0.71417	0.956000	0.39512	0.886000	0.51366	5.735000	0.68587	2.475000	0.83589	0.555000	0.69702	GAG		0.468	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		32	103	0	0	0	0	32	103				
MUC5B	727897	broad.mit.edu	37	11	1263968	1263968	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:1263968C>T	ENST00000529681.1	+	31	5916	c.5858C>T	c.(5857-5859)gCc>gTc	p.A1953V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A1956V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1953	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				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)		AGCTCCAAAGCCACTCCCTCC	0.632																																						uc009ycr.1		NA																	0					0						c.(7936-7938)GCC>GTC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							156.0	197.0	183.0					11																	1263968		2186	4261	6447	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263968C>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.5858C>T	11.37:g.1263968C>T	ENSP00000436812:p.Ala1953Val					MUC5B_uc001ltb.2_Missense_Mutation_p.A1956V	p.A2646V	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)	47	8063	+		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)	1953			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7937C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	5.974	0.363655	0.11296	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16597	2.33;2.51	1.5	1.5	0.22942	.	.	.	.	.	T	0.16981	0.0408	L	0.61218	1.895	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.006	T	0.26849	-1.0091	9	0.87932	D	0	.	4.9161	0.13847	0.3558:0.6442:0.0:0.0	.	2646;1956	A7Y9J9;E9PBJ0	.;.	V	1953;1956;1954;2023	ENSP00000436812:A1953V;ENSP00000415793:A1956V	ENSP00000343037:A1954V	A	+	2	0	MUC5B	1220544	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.184000	0.09698	0.772000	0.33382	0.313000	0.20887	GCC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	94	0	0	0	0	25	94				
C11orf53	341032	broad.mit.edu	37	11	111156591	111156591	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:111156591G>A	ENST00000280325.4	+	4	670	c.523G>A	c.(523-525)Ggg>Agg	p.G175R		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	175										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCACACTCCGGGGTACCCTAC	0.622																																						uc001plc.2		NA																	0					0						c.(523-525)GGG>AGG		hypothetical protein LOC341032							103.0	100.0	101.0					11																	111156591		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111156591G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.523G>A	11.37:g.111156591G>A	ENSP00000280325:p.Gly175Arg						p.G175R	NM_198498	NP_940900	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	4	670	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	175						Missense_Mutation	SNP	ENST00000280325.4	37	c.523G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034275	0.54896	.	.	ENSG00000150750	ENST00000280325	.	.	.	4.95	4.0	0.46444	.	0.296311	0.34133	N	0.004224	T	0.59542	0.2201	M	0.67953	2.075	0.30867	N	0.732864	D	0.76494	0.999	D	0.67231	0.95	T	0.62586	-0.6823	9	0.62326	D	0.03	-17.7865	6.3854	0.21558	0.0942:0.0:0.7236:0.1822	.	175	Q8IXP5	CK053_HUMAN	R	175	.	ENSP00000280325:G175R	G	+	1	0	C11orf53	110661801	0.927000	0.31430	0.930000	0.37139	0.560000	0.35617	1.419000	0.34793	2.295000	0.77249	0.561000	0.74099	GGG		0.622	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		24	103	0	0	0	0	24	103				
NXPE1	120400	broad.mit.edu	37	11	114393075	114393075	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:114393075G>C	ENST00000424269.1	-	5	1258	c.1259C>G	c.(1258-1260)cCt>cGt	p.P420R	NXPE1_ENST00000536271.1_Missense_Mutation_p.P136R|NXPE1_ENST00000251921.2_Missense_Mutation_p.P278R			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	420						extracellular region (GO:0005576)											AATTTCCCGAGGGATATAATC	0.433																																						uc001ppa.2		NA																	0					0						c.(832-834)CCT>CGT		hypothetical protein LOC120400							147.0	142.0	144.0					11																	114393075		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114393075G>C	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1259C>G	11.37:g.114393075G>C	ENSP00000411690:p.Pro420Arg					FAM55A_uc010rxd.1_Missense_Mutation_p.P127R	p.P278R	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	6	1250	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	420					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.833C>G		.	.	.	.	.	.	.	.	.	.	G	17.94	3.511021	0.64522	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.21031	2.03;2.03;2.03	4.44	1.13	0.20643	.	0.502780	0.19148	N	0.121518	T	0.37892	0.1020	M	0.80982	2.52	0.09310	N	1	D	0.53151	0.958	D	0.65573	0.936	T	0.10291	-1.0636	10	0.30854	T	0.27	.	4.9797	0.14158	0.0868:0.1463:0.6167:0.1503	.	420	Q8N323	FA55A_HUMAN	R	136;278;420	ENSP00000445200:P136R;ENSP00000251921:P278R;ENSP00000411690:P420R	ENSP00000251921:P278R	P	-	2	0	FAM55A	113898285	0.056000	0.20664	0.001000	0.08648	0.464000	0.32679	2.350000	0.44063	0.530000	0.28619	0.650000	0.86243	CCT		0.433	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		23	92	0	0	0	0	23	92				
ANO2	57101	broad.mit.edu	37	12	5908715	5908715	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:5908715C>T	ENST00000356134.5	-	11	1075	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	ANO2_ENST00000546188.1_Missense_Mutation_p.R335H|ANO2_ENST00000327087.8_Missense_Mutation_p.R334H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	339					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R335H(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CACTCCATAGCGCGCCCATTC	0.418																																						uc001qnm.2		NA																	1	Substitution - Missense(1)	p.R335H(1)	large_intestine(1)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1000-1002)CGC>CAC		anoctamin 2							80.0	73.0	75.0					12																	5908715		1857	4108	5965	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5908715C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1004G>A	12.37:g.5908715C>T	ENSP00000348453:p.Arg335His						p.R334H	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			10	1073	-			339			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1001G>A		.	.	.	.	.	.	.	.	.	.	C	14.28	2.489475	0.44249	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.71103	-0.54;-0.54;-0.54	5.92	5.03	0.67393	.	0.048093	0.85682	D	0.000000	T	0.79464	0.4450	L	0.60455	1.87	0.50313	D	0.999866	D	0.71674	0.998	D	0.67382	0.951	T	0.77691	-0.2493	10	0.41790	T	0.15	.	13.6252	0.62159	0.0:0.9264:0.0:0.0736	.	334	Q9NQ90-3	.	H	334;335;335;339	ENSP00000314048:R334H;ENSP00000348453:R335H;ENSP00000440981:R335H	ENSP00000314048:R334H	R	-	2	0	ANO2	5778976	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	3.852000	0.55934	2.810000	0.96702	0.585000	0.79938	CGC		0.418	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	32	0	0	0	0	4	32				
CD163L1	283316	broad.mit.edu	37	12	7527960	7527960	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:7527960T>A	ENST00000313599.3	-	11	2975	c.2918A>T	c.(2917-2919)gAg>gTg	p.E973V	CD163L1_ENST00000396630.1_Missense_Mutation_p.E973V|CD163L1_ENST00000416109.2_Missense_Mutation_p.E983V|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	973	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGAAGTGACTCATTCCCTAA	0.458																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2917-2919)GAG>GTG		scavenger receptor cysteine-rich type 1							103.0	89.0	94.0					12																	7527960		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527960T>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2918A>T	12.37:g.7527960T>A	ENSP00000315945:p.Glu973Val					CD163L1_uc010sge.1_Missense_Mutation_p.E983V	p.E973V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			11	2944	-			973			SRCR 9.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2918A>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.340817	0.60963	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.49139	0.79;0.79;0.79	2.29	2.29	0.28610	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.50627	U	0.000120	T	0.76205	0.3955	H	0.98133	4.155	0.21802	N	0.999532	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66941	-0.5796	10	0.72032	D	0.01	.	8.425	0.32723	0.0:0.0:0.0:1.0	.	983;973	E7EVK4;Q9NR16	.;C163B_HUMAN	V	973;983;973	ENSP00000315945:E973V;ENSP00000393474:E983V;ENSP00000379871:E973V	ENSP00000315945:E973V	E	-	2	0	CD163L1	7419227	0.998000	0.40836	0.008000	0.14137	0.635000	0.38103	3.030000	0.49720	1.290000	0.44636	0.374000	0.22700	GAG		0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		10	45	0	0	0	0	10	45				
RACGAP1	29127	broad.mit.edu	37	12	50386143	50386143	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:50386143T>G	ENST00000427314.2	-	16	1686	c.1463A>C	c.(1462-1464)cAt>cCt	p.H488P	RACGAP1_ENST00000434422.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000551016.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H488P|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H488P|RACGAP1_ENST00000547905.1_Missense_Mutation_p.H488P	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CATTTTAGTATGTGGACTCTG	0.393																																						uc001rvt.2		NA																	0				kidney(1)	1						c.(1462-1464)CAT>CCT		Rac GTPase activating protein 1							77.0	72.0	74.0					12																	50386143		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50386143T>G		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1463A>C	12.37:g.50386143T>G	ENSP00000404190:p.His488Pro					RACGAP1_uc009zlm.1_Missense_Mutation_p.H488P|RACGAP1_uc001rvs.2_Missense_Mutation_p.H488P|RACGAP1_uc001rvu.2_Missense_Mutation_p.H488P	p.H488P	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			16	1773	-			488			Rho-GAP.			Missense_Mutation	SNP	ENST00000427314.2	37	c.1463A>C	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769547	0.31320	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.82	-3.19	0.05171	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.637973	0.17924	N	0.157412	T	0.12860	0.0312	L	0.38838	1.175	0.09310	N	0.999995	B	0.10296	0.003	B	0.20767	0.031	T	0.28933	-1.0028	9	.	.	.	-0.3109	8.2975	0.31995	0.0:0.3209:0.1017:0.5774	.	488	Q9H0H5	RGAP1_HUMAN	P	488;488;488;488;488;488;224	ENSP00000404190:H488P;ENSP00000309871:H488P;ENSP00000413241:H488P;ENSP00000404808:H488P;ENSP00000449374:H488P;ENSP00000449370:H488P;ENSP00000449565:H224P	.	H	-	2	0	RACGAP1	48672410	0.765000	0.28485	0.741000	0.31004	0.991000	0.79684	0.709000	0.25734	-0.415000	0.07484	0.455000	0.32223	CAT		0.393	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		8	46	0	0	0	0	8	46				
APAF1	317	broad.mit.edu	37	12	99065373	99065373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:99065373C>T	ENST00000551964.1	+	12	2405	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	APAF1_ENST00000547045.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.R546*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Nonsense_Mutation_p.R557*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.R546*|APAF1_ENST00000357310.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.R557*	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	557					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CCTTCTTGGACGACAGCCATT	0.413																																						uc001tfz.2		NA																	0				ovary(2)|lung(1)	3						c.(1669-1671)CGA>TGA		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						137.0	139.0	138.0					12																	99065373		2203	4300	6503	SO:0001587	stop_gained	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99065373C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1669C>T	12.37:g.99065373C>T	ENSP00000448165:p.Arg557*					APAF1_uc001tfy.2_Nonsense_Mutation_p.R546*|APAF1_uc001tga.2_Nonsense_Mutation_p.R546*|APAF1_uc001tgb.2_Nonsense_Mutation_p.R557*|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Translation_Start_Site	p.R557*	NM_181861	NP_863651	O14727	APAF_HUMAN			12	2246	+			557					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	ENST00000551964.1	37	c.1669C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	43	10.372220	0.99393	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.95	5.01	0.66863	.	0.178511	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-19.4623	9.394	0.38390	0.1446:0.7844:0.0:0.0709	.	.	.	.	X	557;546;557;557;546;557;557	.	ENSP00000341830:R557X	R	+	1	2	APAF1	97589504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.529000	0.53532	2.824000	0.97209	0.655000	0.94253	CGA		0.413	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		10	110	0	0	0	0	10	110				
MED13L	23389	broad.mit.edu	37	12	116445306	116445306	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:116445306A>G	ENST00000281928.3	-	11	2354	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	716						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTCAAAGGTATATGGGTCAT	0.433																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2146-2148)TAT>TAC		mediator complex subunit 13-like							212.0	204.0	207.0					12																	116445306		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116445306A>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2148T>C	12.37:g.116445306A>G							p.Y716Y	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	11	2203	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		716					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.2148T>C	CCDS9177.1																																																																																				0.433	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			23	135	0	0	0	0	23	135				
RPLP0	6175	broad.mit.edu	37	12	120634606	120634606	+	Silent	SNP	G	G	A	rs375808013	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:120634606G>A	ENST00000551150.1	-	7	1239	c.924C>T	c.(922-924)gaC>gaT	p.D308D	RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000552292.1_Silent_p.D98D|RPLP0_ENST00000228306.4_Silent_p.D308D|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000546989.1_Silent_p.D272D|RPLP0_ENST00000392514.4_Silent_p.D308D|RPLP0_ENST00000313104.5_Silent_p.D246D			P05388	RLA0_HUMAN	ribosomal protein, large, P0	308					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)|ribosome biogenesis (GO:0042254)|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)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATATCCTCGTCCGACTCCT	0.488													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20008	0.0		0.001	False		,,,				2504	0.0					uc001txp.2		NA																	0				ovary(1)	1						c.(922-924)GAC>GAT		ribosomal protein P0		G	,	1,4403		0,1,2201	30.0	34.0	32.0		924,924	-5.2	0.9	12		32	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous	RPLP0	NM_001002.3,NM_053275.3	,	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	,	308/318,308/318	120634606	2,12992	2202	4295	6497	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120634606G>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.924C>T	12.37:g.120634606G>A						GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Silent_p.D308D|RPLP0_uc001txr.2_Silent_p.D246D	p.D308D	NM_053275	NP_444505	P05388	RLA0_HUMAN			8	1161	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		308					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.924C>T	CCDS9193.1																																																																																				0.488	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		10	50	0	0	0	0	10	50				
DNAH10	196385	broad.mit.edu	37	12	124341683	124341683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:124341683G>T	ENST00000409039.3	+	36	6190	c.6165G>T	c.(6163-6165)ttG>ttT	p.L2055F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2055					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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCTTGGTTTGATTTCGGATC	0.532																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6163-6165)TTG>TTT		dynein, axonemal, heavy chain 10							178.0	184.0	182.0					12																	124341683		2060	4193	6253	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124341683G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6165G>T	12.37:g.124341683G>T	ENSP00000386770:p.Leu2055Phe						p.L2055F	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	36	6190	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2055					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.6165G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206219	0.39003	.	.	ENSG00000197653	ENST00000409039	T	0.50548	0.74	5.75	2.75	0.32379	.	0.000000	0.52532	U	0.000080	T	0.80336	0.4604	H	0.99464	4.58	0.50171	D	0.999853	D	0.89917	1.0	D	0.97110	1.0	D	0.83573	0.0113	10	0.87932	D	0	.	10.6713	0.45760	0.0732:0.3733:0.5535:0.0	.	2055	Q8IVF4	DYH10_HUMAN	F	2055	ENSP00000386770:L2055F	ENSP00000386770:L2055F	L	+	3	2	DNAH10	122907636	1.000000	0.71417	0.549000	0.28204	0.175000	0.22909	0.687000	0.25407	0.283000	0.22279	0.655000	0.94253	TTG		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	54	1	0	0.00307968	0.00339465	6	54				
LATS2	26524	broad.mit.edu	37	13	21562740	21562740	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr13:21562740G>A	ENST00000382592.4	-	4	1584	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	LATS2_ENST00000542899.1_Silent_p.H393H|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGAAGGCCACGTGCGCGCGCG	0.736																																						uc009zzs.2		NA																	0				lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(1177-1179)CAC>CAT		LATS, large tumor suppressor, homolog 2							9.0	13.0	12.0					13																	21562740		2089	4103	6192	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562740G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1179C>T	13.37:g.21562740G>A						LATS2_uc001unr.3_Silent_p.H393H	p.H393H	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1544	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	393						Silent	SNP	ENST00000382592.4	37	c.1179C>T	CCDS9294.1																																																																																				0.736	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	7	0	0	0	0	3	7				
NEK5	341676	broad.mit.edu	37	13	52682493	52682493	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr13:52682493G>T	ENST00000355568.4	-	8	654	c.515C>A	c.(514-516)tCc>tAc	p.S172Y		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GATCTCTGGGGACAGGTAGTA	0.338																																						uc001vge.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(514-516)TCC>TAC		NIMA-related kinase 5							158.0	151.0	154.0					13																	52682493		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52682493G>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.515C>A	13.37:g.52682493G>T	ENSP00000347767:p.Ser172Tyr					NEK5_uc001vgf.2_Missense_Mutation_p.S172Y	p.S172Y	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	8	655	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	172			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.515C>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695193	0.88830	.	.	ENSG00000197168	ENST00000355568	T	0.28666	1.6	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.71978	0.3404	H	0.97758	4.07	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.83123	-0.0117	10	0.87932	D	0	.	19.1656	0.93555	0.0:0.0:1.0:0.0	.	172	Q6P3R8	NEK5_HUMAN	Y	172	ENSP00000347767:S172Y	ENSP00000347767:S172Y	S	-	2	0	NEK5	51580494	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.046000	0.93817	2.532000	0.85374	0.557000	0.71058	TCC		0.338	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		24	53	1	0	1.55e-18	2.03e-18	24	53				
GZMH	2999	broad.mit.edu	37	14	25076508	25076508	+	Silent	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:25076508A>C	ENST00000216338.4	-	4	488	c.444T>G	c.(442-444)ggT>ggG	p.G148G	GZMH_ENST00000382548.4_Intron|GZMH_ENST00000557220.2_Intron|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)	148	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)		TTGAGACATAACCCCAGCCAG	0.557																																						uc001wpr.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(442-444)GGT>GGG		granzyme H precursor							89.0	81.0	84.0					14																	25076508		2203	4300	6503	SO:0001819	synonymous_variant	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25076508A>C	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.444T>G	14.37:g.25076508A>C						GZMH_uc010aly.1_Intron|GZMH_uc010alz.1_Intron	p.G148G	NM_033423	NP_219491	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	4	489	-			148			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Silent	SNP	ENST00000216338.4	37	c.444T>G	CCDS9632.1																																																																																				0.557	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		10	65	0	0	0	0	10	65				
FOXG1	2290	broad.mit.edu	37	14	29237527	29237527	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:29237527A>C	ENST00000313071.4	+	1	1241	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	FOXG1_ENST00000382535.3_Missense_Mutation_p.N348H	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	348					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTGACTCAGAACTCGCTGGG	0.657																																						uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1042-1044)AAC>CAC		forkhead box G1							105.0	97.0	100.0					14																	29237527		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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.chr14:29237527A>C		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1042A>C	14.37:g.29237527A>C	ENSP00000339004:p.Asn348His						p.N348H	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1241	+			348					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1042A>C	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342232	0.81911	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93547	-3.24;-3.24	4.21	4.21	0.49690	.	1.362570	0.05753	U	0.603435	D	0.94052	0.8094	N	0.24115	0.695	0.54753	D	0.999981	D	0.69078	0.997	D	0.63597	0.916	D	0.87530	0.2452	10	0.56958	D	0.05	.	13.5832	0.61915	1.0:0.0:0.0:0.0	.	348	P55316	FOXG1_HUMAN	H	348	ENSP00000371975:N348H;ENSP00000339004:N348H	ENSP00000339004:N348H	N	+	1	0	FOXG1	28307278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.096000	0.71446	1.661000	0.50771	0.402000	0.26972	AAC		0.657	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			18	117	0	0	0	0	18	117				
ARHGAP5	394	broad.mit.edu	37	14	32586346	32586346	+	Splice_Site	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:32586346C>T	ENST00000345122.3	+	3	4033	c.3718C>T	c.(3718-3720)Cag>Tag	p.Q1240*	ARHGAP5_ENST00000539826.2_Splice_Site_p.Q1240*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1240	Lys-rich.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTCTTATAGCAGAAAAAGAA	0.323																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(3718-3720)CAG>TAG		Rho GTPase activating protein 5 isoform b							48.0	51.0	50.0					14																	32586346		2203	4300	6503	SO:0001630	splice_region_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32586346C>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3718-1C>T	14.37:g.32586346C>T						ARHGAP5_uc001wrm.2_Intron|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.Q1240*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.Q1240*	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	3	3957	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1240			Lys-rich.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	c.3718C>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	44	11.082029	0.99513	.	.	ENSG00000100852	ENST00000539826;ENST00000345122	.	.	.	5.63	5.63	0.86233	.	0.527782	0.21971	N	0.066450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8531	0.88754	0.0:1.0:0.0:0.0	.	.	.	.	X	1240	.	.	Q	+	1	0	ARHGAP5	31656097	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.955000	0.70306	2.653000	0.90120	0.563000	0.77884	CAG		0.323	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	Nonsense_Mutation	9	38	0	0	0	0	9	38				
FERMT2	10979	broad.mit.edu	37	14	53345312	53345312	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:53345312A>G	ENST00000395631.2	-	7	1167	c.951T>C	c.(949-951)ttT>ttC	p.F317F	FERMT2_ENST00000343279.4_Silent_p.F317F|FERMT2_ENST00000399304.3_Silent_p.F317F|FERMT2_ENST00000341590.3_Silent_p.F317F|FERMT2_ENST00000553373.1_Silent_p.F317F			Q96AC1	FERM2_HUMAN	fermitin family member 2	317	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GCAGGGCTGCAAACATCATCA	0.413																																						uc001xad.2		NA																	0					0						c.(949-951)TTT>TTC		fermitin family homolog 2 isoform 1							172.0	160.0	164.0					14																	53345312		2203	4300	6503	SO:0001819	synonymous_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53345312A>G	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.951T>C	14.37:g.53345312A>G						FERMT2_uc001xac.2_Silent_p.F317F|FERMT2_uc001xae.2_Silent_p.F317F|FERMT2_uc001xaf.2_Silent_p.F317F	p.F317F	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN			7	1006	-	Breast(41;0.0342)		317			FERM.		B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	c.951T>C	CCDS9713.1																																																																																				0.413	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		26	80	0	0	0	0	26	80				
RPAP1	26015	broad.mit.edu	37	15	41819777	41819777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:41819777C>T	ENST00000304330.4	-	12	1571	c.1455G>A	c.(1453-1455)tgG>tgA	p.W485*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.W485*|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	485						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)		CTCCATGGTACCAAGAGAAGG	0.552																																						uc001zod.2		NA																	0				large_intestine(1)	1						c.(1453-1455)TGG>TGA		RNA polymerase II associated protein 1							56.0	51.0	53.0					15																	41819777		2203	4300	6503	SO:0001587	stop_gained	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819777C>T	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.1455G>A	15.37:g.41819777C>T	ENSP00000306123:p.Trp485*						p.W485*	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)	12	1579	-		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)	485					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Nonsense_Mutation	SNP	ENST00000304330.4	37	c.1455G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	38	7.081799	0.98051	.	.	ENSG00000103932	ENST00000304330	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7989	19.6036	0.95573	0.0:1.0:0.0:0.0	.	.	.	.	X	485	.	ENSP00000306123:W485X	W	-	3	0	RPAP1	39607069	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.264000	0.78432	2.808000	0.96608	0.655000	0.94253	TGG		0.552	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		3	19	0	0	0	0	3	19				
SPG11	80208	broad.mit.edu	37	15	44900683	44900683	+	Missense_Mutation	SNP	T	T	C	rs377351819		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:44900683T>C	ENST00000261866.7	-	19	3428	c.3412A>G	c.(3412-3414)Agt>Ggt	p.S1138G	SPG11_ENST00000535302.2_Missense_Mutation_p.S1138G|SPG11_ENST00000558319.1_Missense_Mutation_p.S1138G|SPG11_ENST00000427534.2_Missense_Mutation_p.S1138G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1138					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCAGGACACTAGGAGGAGTG	0.423																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(3412-3414)AGT>GGT		spatacsin isoform 1		T	GLY/SER,GLY/SER	0,4396		0,0,2198	141.0	126.0	131.0		3412,3412	2.3	0.3	15		131	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	SPG11	NM_025137.3,NM_001160227.1	56,56	0,1,6495	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	1138/2444,1138/2331	44900683	1,12991	2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44900683T>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3412A>G	15.37:g.44900683T>C	ENSP00000261866:p.Ser1138Gly					SPG11_uc010ueh.1_Missense_Mutation_p.S1138G|SPG11_uc010uei.1_Missense_Mutation_p.S1138G	p.S1138G	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	19	3443	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1138			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3412A>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	9.815	1.184091	0.21870	0.0	1.16E-4	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.31769	1.48;1.48;1.48	5.88	2.31	0.28768	.	0.906950	0.09750	N	0.760746	T	0.15046	0.0363	N	0.17082	0.46	0.44798	D	0.997805	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.006;0.006;0.006	T	0.18493	-1.0335	10	0.09843	T	0.71	.	3.6013	0.08026	0.0:0.3199:0.1923:0.4878	.	1138;1138;1138	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	G	1138	ENSP00000261866:S1138G;ENSP00000445278:S1138G;ENSP00000396110:S1138G	ENSP00000261866:S1138G	S	-	1	0	SPG11	42687975	0.999000	0.42202	0.282000	0.24776	0.990000	0.78478	0.912000	0.28597	0.458000	0.26988	0.533000	0.62120	AGT		0.423	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			12	54	0	0	0	0	12	54				
GLDN	342035	broad.mit.edu	37	15	51696913	51696913	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:51696913T>C	ENST00000335449.6	+	10	1674	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	GLDN_ENST00000396399.2_Missense_Mutation_p.Y416H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	540	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTTAATGCTTTATCCTGTGCA	0.413																																						uc002aba.2		NA																	0				ovary(2)	2						c.(1618-1620)TAT>CAT		gliomedin							110.0	118.0	115.0					15																	51696913		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696913T>C	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1618T>C	15.37:g.51696913T>C	ENSP00000335196:p.Tyr540His					GLDN_uc002abb.2_Missense_Mutation_p.Y416H	p.Y540H	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1787	+			540			Extracellular (Potential).|Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1618T>C	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716286	0.48622	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.95622	-3.76;-3.76	5.93	4.8	0.61643	Olfactomedin-like (3);	0.000000	0.39274	N	0.001405	D	0.97318	0.9123	M	0.86864	2.845	0.58432	D	0.999993	D	0.57571	0.98	P	0.59761	0.863	D	0.97273	0.9912	10	0.87932	D	0	.	12.5199	0.56054	0.1251:0.0:0.0:0.8749	.	540	Q6ZMI3	GLDN_HUMAN	H	540;416;416	ENSP00000335196:Y540H;ENSP00000379681:Y416H	ENSP00000335196:Y540H	Y	+	1	0	GLDN	49484205	1.000000	0.71417	0.978000	0.43139	0.260000	0.26232	5.967000	0.70403	1.054000	0.40438	-0.336000	0.08194	TAT		0.413	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		19	99	0	0	0	0	19	99				
RASGRF1	5923	broad.mit.edu	37	15	79350798	79350798	+	Missense_Mutation	SNP	C	C	T	rs150686548		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:79350798C>T	ENST00000419573.3	-	3	683	c.409G>A	c.(409-411)Gag>Aag	p.E137K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E137K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	137					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTAATGCCTCATGCTCTGTG	0.572																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(409-411)GAG>AAG		Ras protein-specific guanine		C	LYS/GLU,LYS/GLU	0,4392		0,0,2196	126.0	104.0	111.0		409,409	4.6	0.6	15	dbSNP_134	111	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	RASGRF1	NM_001145648.1,NM_002891.4	56,56	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	137/1258,137/1274	79350798	1,12977	2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79350798C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.409G>A	15.37:g.79350798C>T	ENSP00000405963:p.Glu137Lys					RASGRF1_uc002bep.2_Missense_Mutation_p.E137K|RASGRF1_uc010blm.1_Missense_Mutation_p.E59K|RASGRF1_uc002ber.3_Missense_Mutation_p.E137K	p.E137K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			3	784	-			137					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.409G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683785	0.68157	0.0	1.16E-4	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.45668	0.89	4.59	4.59	0.56863	.	0.065212	0.64402	D	0.000013	T	0.60932	0.2307	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.989;0.997;0.997;0.998	P;D;D;D	0.72982	0.887;0.953;0.953;0.979	T	0.64943	-0.6288	10	0.87932	D	0	.	14.9273	0.70890	0.0:1.0:0.0:0.0	.	137;137;137;137	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	137	ENSP00000405963:E137K	ENSP00000378224:E137K	E	-	1	0	RASGRF1	77137853	1.000000	0.71417	0.638000	0.29380	0.105000	0.19272	7.316000	0.79007	2.366000	0.80165	0.542000	0.68232	GAG		0.572	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		5	45	0	0	0	0	5	45				
CLDN6	9074	broad.mit.edu	37	16	3065430	3065430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:3065430G>A	ENST00000396925.1	-	3	1021	c.593C>T	c.(592-594)gCc>gTc	p.A198V	CLDN6_ENST00000328796.4_Missense_Mutation_p.A198V|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	198					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAGTAGCGGGCCATGTAATG	0.652																																						uc002csu.3		NA																	0					0						c.(592-594)GCC>GTC		claudin 6							42.0	48.0	46.0					16																	3065430		2198	4300	6498	SO:0001583	missense	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065430G>A	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.593C>T	16.37:g.3065430G>A	ENSP00000380131:p.Ala198Val						p.A198V	NM_021195	NP_067018	P56747	CLD6_HUMAN			2	653	-			198			Cytoplasmic (Potential).		B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	c.593C>T	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	G	9.668	1.145843	0.21288	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.84223	-1.82;-1.82	4.77	3.8	0.43715	.	0.610307	0.16580	N	0.208239	T	0.81498	0.4835	N	0.08118	0	0.46586	D	0.99911	D	0.76494	0.999	D	0.68765	0.96	T	0.75639	-0.3248	10	0.14252	T	0.57	.	12.3145	0.54948	0.0:0.0:0.8293:0.1707	.	198	P56747	CLD6_HUMAN	V	198	ENSP00000380131:A198V;ENSP00000328674:A198V	ENSP00000328674:A198V	A	-	2	0	CLDN6	3005431	1.000000	0.71417	0.994000	0.49952	0.503000	0.33858	5.682000	0.68182	1.348000	0.45733	0.561000	0.74099	GCC		0.652	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		13	60	0	0	0	0	13	60				
TEKT5	146279	broad.mit.edu	37	16	10788235	10788235	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:10788235T>C	ENST00000283025.2	-	1	567	c.496A>G	c.(496-498)Aac>Gac	p.N166D	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	166						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						AAGTTCTGGTTCTCAGTCAGA	0.607																																						uc002czz.1		NA																	0				ovary(2)	2						c.(496-498)AAC>GAC		tektin 5							130.0	141.0	137.0					16																	10788235		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788235T>C		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.496A>G	16.37:g.10788235T>C	ENSP00000283025:p.Asn166Asp						p.N166D	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	568	-			166			Potential.		A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.496A>G	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.451000	0.26074	.	.	ENSG00000153060	ENST00000283025	T	0.02345	4.33	5.63	4.53	0.55603	.	0.878306	0.09988	N	0.730166	T	0.04227	0.0117	L	0.38838	1.175	0.29523	N	0.85339	B	0.11235	0.004	B	0.19946	0.027	T	0.23691	-1.0181	10	0.62326	D	0.03	-11.5459	11.9077	0.52721	0.0:0.0:0.146:0.854	.	166	Q96M29	TEKT5_HUMAN	D	166	ENSP00000283025:N166D	ENSP00000283025:N166D	N	-	1	0	TEKT5	10695736	1.000000	0.71417	0.515000	0.27774	0.009000	0.06853	4.573000	0.60893	0.939000	0.37446	-0.321000	0.08615	AAC		0.607	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		49	249	0	0	0	0	49	249				
ZNF646	9726	broad.mit.edu	37	16	31087784	31087784	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:31087784C>G	ENST00000394979.2	+	1	562	c.139C>G	c.(139-141)Ccc>Gcc	p.P47A	ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000394983.2_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000538906.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.P47A			O15015	ZN646_HUMAN	zinc finger protein 646	47					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATCCCTCGGCCCTACCGTTG	0.632																																						uc002eap.2		NA																	0				breast(2)	2						c.(139-141)CCC>GCC		zinc finger protein 646							115.0	89.0	98.0					16																	31087784		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087784C>G	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.139C>G	16.37:g.31087784C>G	ENSP00000378429:p.Pro47Ala					ZNF668_uc002eao.2_5'Flank	p.P47A	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	428	+			47					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.139C>G		.	.	.	.	.	.	.	.	.	.	C	21.8	4.202251	0.79127	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.51071	1.4;0.72;0.72	5.9	5.9	0.94986	.	.	.	.	.	T	0.68339	0.2990	M	0.64997	1.995	0.47094	D	0.999318	D	0.89917	1.0	D	0.91635	0.999	T	0.68224	-0.5465	9	0.66056	D	0.02	-13.2828	19.0437	0.93011	0.0:1.0:0.0:0.0	.	47	O15015-2	.	A	47	ENSP00000391271:P47A;ENSP00000300850:P47A;ENSP00000378429:P47A	ENSP00000300850:P47A	P	+	1	0	ZNF646	30995285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.776000	0.55356	2.793000	0.96121	0.563000	0.77884	CCC		0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		13	81	0	0	0	0	13	81				
ZNF646	9726	broad.mit.edu	37	16	31087829	31087829	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:31087829A>G	ENST00000394979.2	+	1	607	c.184A>G	c.(184-186)Agc>Ggc	p.S62G	ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.S62G			O15015	ZN646_HUMAN	zinc finger protein 646	62					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCACCCCGGGAGCCTGGTTAA	0.602																																						uc002eap.2		NA																	0				breast(2)	2						c.(184-186)AGC>GGC		zinc finger protein 646							112.0	73.0	86.0					16																	31087829		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087829A>G	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.184A>G	16.37:g.31087829A>G	ENSP00000378429:p.Ser62Gly					ZNF668_uc002eao.2_5'Flank	p.S62G	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	473	+			62			C2H2-type 2.		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.184A>G		.	.	.	.	.	.	.	.	.	.	A	22.3	4.276997	0.80580	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.52983	0.64;0.64;0.64	5.9	5.9	0.94986	.	.	.	.	.	T	0.50803	0.1637	N	0.25144	0.715	0.32385	N	0.553983	D	0.64830	0.994	P	0.57152	0.814	T	0.62044	-0.6937	9	0.62326	D	0.03	-14.0073	15.307	0.74001	1.0:0.0:0.0:0.0	.	62	O15015-2	.	G	62	ENSP00000391271:S62G;ENSP00000300850:S62G;ENSP00000378429:S62G	ENSP00000300850:S62G	S	+	1	0	ZNF646	30995330	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.812000	0.69194	2.254000	0.74563	0.460000	0.39030	AGC		0.602	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		13	61	0	0	0	0	13	61				
DUS2	54920	broad.mit.edu	37	16	68112759	68112759	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:68112759G>A	ENST00000565263.1	+	17	1846	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	DUS2_ENST00000432752.1_Missense_Mutation_p.R416Q|DUS2_ENST00000358896.6_Missense_Mutation_p.R451Q|RP11-67A1.2_ENST00000548144.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	451					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TTGCACAAGCGAAAGAGGGAG	0.627																																						uc002evi.2		NA																	0					0						c.(1351-1353)CGA>CAA		dihydrouridine synthase 2-like, SMM1 homolog							44.0	48.0	47.0					16																	68112759		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68112759G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.1352G>A	16.37:g.68112759G>A	ENSP00000455229:p.Arg451Gln					DUS2L_uc002evj.2_Missense_Mutation_p.R451Q|DUS2L_uc010vkk.1_Missense_Mutation_p.R416Q|DUS2L_uc010cez.2_Missense_Mutation_p.R364Q	p.R451Q	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	17	1501	+		Ovarian(137;0.192)	451					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.1352G>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623678	0.96660	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.64618	-0.11;-0.11	5.55	5.55	0.83447	.	0.234553	0.39985	N	0.001212	T	0.70413	0.3221	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.73257	-0.4040	10	0.72032	D	0.01	.	17.2883	0.87147	0.0:0.0:1.0:0.0	.	416;451	E7EUN9;Q9NX74	.;DUS2L_HUMAN	Q	451;416	ENSP00000351769:R451Q;ENSP00000409498:R416Q	ENSP00000351769:R451Q	R	+	2	0	DUS2L	66670260	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.936000	0.92931	2.611000	0.88343	0.655000	0.94253	CGA		0.627	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		13	57	0	0	0	0	13	57				
NUP88	4927	broad.mit.edu	37	17	5290432	5290432	+	Splice_Site	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:5290432T>C	ENST00000573584.1	-	15	2426		c.e15-2		NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						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)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTTTTCATCCTTTAGAAAAGG	0.373																																						uc002gbo.1		NA																	0				kidney(1)	1						c.e15-1		nucleoporin 88kDa							67.0	67.0	67.0					17																	5290432		2203	4300	6503	SO:0001630	splice_region_variant	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5290432T>C	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1917-2A>G	17.37:g.5290432T>C						NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Splice_Site_p.R655_splice	p.R639_splice	NM_002532	NP_002523	Q99567	NUP88_HUMAN			15	1943	-								D3DTM2|Q9BWE5	Splice_Site	SNP	ENST00000573584.1	37	c.1917_splice	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441791	0.43326	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6966	0.62582	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP88	5231156	1.000000	0.71417	0.960000	0.40013	0.646000	0.38490	6.113000	0.71553	2.092000	0.63282	0.455000	0.32223	.		0.373	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532	Intron	11	29	0	0	0	0	11	29				
CHRNB1	1140	broad.mit.edu	37	17	7350422	7350422	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:7350422C>T	ENST00000306071.2	+	5	481	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CHRNB1_ENST00000536404.2_Silent_p.S66S|RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000576360.1_Silent_p.S66S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	138					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CCGACGGCTCCGTGCGTTGGC	0.582																																						uc002ghb.2		NA																	0				ovary(2)	2						c.(412-414)TCC>TCT		nicotinic acetylcholine receptor beta 1 subunit							85.0	78.0	80.0					17																	7350422		2203	4300	6503	SO:0001819	synonymous_variant	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7350422C>T	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.414C>T	17.37:g.7350422C>T						CHRNB1_uc010vty.1_Silent_p.S66S|CHRNB1_uc010vtz.1_5'UTR	p.S138S	NM_000747	NP_000738	P11230	ACHB_HUMAN			5	455	+		Prostate(122;0.157)	138			Extracellular (Potential).		B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.414C>T	CCDS11106.1																																																																																				0.582	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			9	37	0	0	0	0	9	37				
TP53	7157	broad.mit.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	A	rs587782272		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:7574034C>A	ENST00000269305.4	-	10	1183		c.e10-1		TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(9)|p.0?(8)|p.I332fs*49(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)	GCCCACGGATCTGCAGCAACA	0.512		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		18	Unknown(9)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.0?(7)|p.?(4)|p.I332fs*49(1)	lung(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|stomach(1)|breast(1)|ovary(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	CS002470|CS033842	TP53	S		c.e10-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							44.0	36.0	39.0					17																	7574034		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|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.chr17:7574034C>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.994-1G>T	17.37:g.7574034C>A		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_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site|TP53_uc010cng.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cnh.1_Splice_Site|TP53_uc010cni.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice	p.I332_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1188	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.994_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114596	0.37339	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4323	0.83853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514759	1.000000	0.71417	0.997000	0.53966	0.143000	0.21401	6.410000	0.73294	2.549000	0.85964	0.561000	0.74099	.		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	5	15	1	0	0.000602214	0.000675316	5	15				
MYH2	4620	broad.mit.edu	37	17	10432731	10432731	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:10432731T>A	ENST00000245503.5	-	25	3569	c.3185A>T	c.(3184-3186)gAg>gTg	p.E1062V	MYH2_ENST00000397183.2_Missense_Mutation_p.E1062V|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1062					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						CAAGTCACCCTCAAGTTTCCT	0.373																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3184-3186)GAG>GTG		myosin heavy chain IIa							138.0	129.0	132.0					17																	10432731		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432731T>A		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.3185A>T	17.37:g.10432731T>A	ENSP00000245503:p.Glu1062Val					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1062V|MYH2_uc010coj.2_Intron	p.E1062V	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			25	3313	-			1062			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3185A>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294620	0.60086	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.93811	-3.29;-3.29	5.24	5.24	0.73138	.	0.000000	0.39687	U	0.001293	D	0.97695	0.9244	H	0.96833	3.89	0.58432	D	0.999999	D	0.58620	0.983	D	0.65323	0.934	D	0.99047	1.0826	10	0.87932	D	0	.	15.3006	0.73949	0.0:0.0:0.0:1.0	.	1062	Q9UKX2	MYH2_HUMAN	V	1062	ENSP00000245503:E1062V;ENSP00000380367:E1062V	ENSP00000245503:E1062V	E	-	2	0	MYH2	10373456	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.554000	0.82212	2.194000	0.70268	0.482000	0.46254	GAG		0.373	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		8	62	0	0	0	0	8	62				
NF1	4763	broad.mit.edu	37	17	29548868	29548868	+	Splice_Site	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:29548868G>T	ENST00000358273.4	+	15	2025	c.1642G>T	c.(1642-1644)Gct>Tct	p.A548S	NF1_ENST00000431387.4_Splice_Site_p.A548S|NF1_ENST00000356175.3_Splice_Site_p.A548S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	548					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAAATTCAGGCTCTGCTGGT	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1642-1644)GCT>TCT		neurofibromin isoform 1							51.0	49.0	50.0					17																	29548868		2202	4293	6495	SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29548868G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1642-1G>T	17.37:g.29548868G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgf.1_Missense_Mutation_p.A548S|NF1_uc002hgh.2_Missense_Mutation_p.A548S|NF1_uc010csn.1_Missense_Mutation_p.A408S	p.A548S	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	15	1975	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	548					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1642G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255185	0.95336	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.70045	2.47;-0.45;-0.45;2.56	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.99;0.999;0.998	D;D;D;D	0.91635	0.999;0.98;0.973;0.994	T	0.81278	-0.1005	9	.	.	.	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	548;548;548;548	E1P657;P21359-2;P21359;Q14931	.;.;NF1_HUMAN;.	S	548;548;548;214	ENSP00000412921:A548S;ENSP00000351015:A548S;ENSP00000348498:A548S;ENSP00000389907:A214S	.	A	+	1	0	NF1	26572994	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.434000	0.97515	2.738000	0.93877	0.655000	0.94253	GCT		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Missense_Mutation	4	40	1	0	0.00909568	0.0096954	4	40				
WNK4	65266	broad.mit.edu	37	17	40940808	40940808	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:40940808C>A	ENST00000246914.5	+	11	2171	c.2150C>A	c.(2149-2151)gCt>gAt	p.A717D		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	717					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGATTGCAGCTGCCATGGTG	0.537																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(2149-2151)GCT>GAT		WNK lysine deficient protein kinase 4							107.0	85.0	93.0					17																	40940808		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940808C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2150C>A	17.37:g.40940808C>A	ENSP00000246914:p.Ala717Asp					WNK4_uc010wgx.1_Missense_Mutation_p.A381D|WNK4_uc002ibk.1_Missense_Mutation_p.A489D|WNK4_uc010wgy.1_Missense_Mutation_p.A61D	p.A717D	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2171	+		Breast(137;0.000143)	717					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2150C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882569	0.51908	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.27720	1.65	4.98	4.98	0.66077	.	0.000000	0.48767	D	0.000164	T	0.24236	0.0587	N	0.16790	0.44	0.40054	D	0.975819	P;P;P;P	0.46395	0.877;0.865;0.56;0.787	B;P;B;B	0.46585	0.419;0.521;0.219;0.219	T	0.02574	-1.1139	10	0.54805	T	0.06	-18.0673	10.7193	0.46032	0.0:0.9116:0.0:0.0884	.	61;717;717;717	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	D	717;489;61	ENSP00000246914:A717D	ENSP00000246914:A717D	A	+	2	0	WNK4	38194334	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.735000	0.55044	2.598000	0.87819	0.655000	0.94253	GCT		0.537	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			11	51	1	0	0.000151284	0.000173664	11	51				
MYCBPAP	84073	broad.mit.edu	37	17	48602250	48602250	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:48602250G>T	ENST00000323776.5	+	13	1939	c.1777G>T	c.(1777-1779)Gcc>Tcc	p.A593S	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A556S	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGCTGACTGCCCATGAGGC	0.582																																						uc010wmr.1		NA																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(1777-1779)GCC>TCC		Myc-binding protein-associated protein							60.0	63.0	62.0					17																	48602250		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48602250G>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1777G>T	17.37:g.48602250G>T	ENSP00000323184:p.Ala593Ser					MYCBPAP_uc002iqz.2_RNA	p.A593S	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		13	1939	+	Breast(11;1.23e-18)		556						Missense_Mutation	SNP	ENST00000323776.5	37	c.1777G>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116580	0.20795	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.42513	0.97;0.97	5.88	-4.93	0.03066	.	0.549745	0.19358	N	0.116211	T	0.23965	0.0580	L	0.42686	1.345	0.09310	N	1	B	0.20052	0.041	B	0.14578	0.011	T	0.13415	-1.0510	10	0.25751	T	0.34	-4.2661	5.0348	0.14428	0.2613:0.0:0.3042:0.4344	.	556	Q8TBZ2	MYBPP_HUMAN	S	593;556	ENSP00000323184:A593S;ENSP00000397209:A556S	ENSP00000323184:A593S	A	+	1	0	MYCBPAP	45957249	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.178000	0.09782	-0.268000	0.09312	0.650000	0.86243	GCC		0.582	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		19	80	1	0	5.04e-11	6.41e-11	19	80				
ABCA6	23460	broad.mit.edu	37	17	67094145	67094145	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:67094145C>T	ENST00000284425.2	-	23	3210	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G	MIR4524B_ENST00000581569.1_RNA|ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1012					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CATCCGGCAACCCAGTCCAGA	0.368																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(3034-3036)GGG>GGA		ATP-binding cassette, sub-family A, member 6							42.0	42.0	42.0					17																	67094145		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67094145C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3036G>A	17.37:g.67094145C>T							p.G1012G	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			23	3211	-	Breast(10;5.65e-12)		1012			Helical; (Potential).		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.3036G>A	CCDS11683.1																																																																																				0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		6	27	0	0	0	0	6	27				
ABCA6	23460	broad.mit.edu	37	17	67111520	67111520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:67111520C>A	ENST00000284425.2	-	12	1777	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	535	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TACTCACCTTCTGTTGGAACA	0.358																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(1603-1605)GAA>TAA		ATP-binding cassette, sub-family A, member 6							85.0	85.0	85.0					17																	67111520		2203	4300	6503	SO:0001587	stop_gained	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111520C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1603G>T	17.37:g.67111520C>A	ENSP00000284425:p.Glu535*					ABCA6_uc002jhx.1_5'UTR	p.E535*	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			12	1778	-	Breast(10;5.65e-12)		535			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	c.1603G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	38	6.659534	0.97743	.	.	ENSG00000154262	ENST00000284425	.	.	.	4.5	1.14	0.20703	.	0.680983	0.13178	N	0.407710	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.0878	0.42428	0.1381:0.561:0.3009:0.0	.	.	.	.	X	535	.	ENSP00000284425:E535X	E	-	1	0	ABCA6	64623115	0.575000	0.26692	0.991000	0.47740	0.639000	0.38242	0.760000	0.26475	0.181000	0.19994	0.544000	0.68410	GAA		0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		16	85	1	0	1.03e-11	1.31e-11	16	85				
DNAH17	8632	broad.mit.edu	37	17	76540009	76540009	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:76540009C>A	ENST00000585328.1	-	17	2586	c.2462G>T	c.(2461-2463)aGa>aTa	p.R821I	DNAH17_ENST00000389840.5_Missense_Mutation_p.R821I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	821	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTTGGCAATTCTTCCATCCAA	0.498																																						uc002jvv.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(1567-1569)AGA>ATA		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							256.0	238.0	244.0					17																	76540009		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76540009C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2462G>T	17.37:g.76540009C>A	ENSP00000465516:p.Arg821Ile						p.R523I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		13	1674	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1568G>T		.	.	.	.	.	.	.	.	.	.	c	9.097	1.003183	0.19121	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.24908	1.83	5.26	4.3	0.51218	.	75.479600	0.00166	N	0.000001	T	0.46737	0.1408	M	0.79011	2.435	0.09310	N	0.999992	P	0.41345	0.746	P	0.47915	0.561	T	0.29274	-1.0017	10	0.49607	T	0.09	.	11.075	0.48025	0.0:0.9121:0.0:0.0879	.	523	Q9UFH2-4	.	I	821	ENSP00000374490:R821I	ENSP00000300671:R821I	R	-	2	0	DNAH17	74051604	0.027000	0.19231	0.002000	0.10522	0.051000	0.14879	1.617000	0.36943	1.207000	0.43291	-0.269000	0.10298	AGA		0.498	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		29	175	1	0	6.39e-12	8.18e-12	29	175				
RNF213	57674	broad.mit.edu	37	17	78318661	78318661	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:78318661C>A	ENST00000582970.1	+	29	6669	c.6526C>A	c.(6526-6528)Caa>Aaa	p.Q2176K	RNF213_ENST00000336301.6_Missense_Mutation_p.Q249K|RNF213_ENST00000508628.2_Missense_Mutation_p.Q2225K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2176					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)			ACGATTCAATCAAAACCAAGA	0.493																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(745-747)CAA>AAA		ring finger protein 213							100.0	96.0	97.0					17																	78318661		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78318661C>A	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.6526C>A	17.37:g.78318661C>A	ENSP00000464087:p.Gln2176Lys						p.Q249K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	968	+	all_neural(118;0.0538)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_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.745C>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	2.209	-0.381149	0.05000	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.20881	2.04	5.57	2.34	0.29019	.	0.424073	0.22570	N	0.058350	T	0.16896	0.0406	L	0.46157	1.445	0.09310	N	1	B	0.18610	0.029	B	0.15484	0.013	T	0.29579	-1.0007	10	0.13470	T	0.59	.	11.7141	0.51641	0.1857:0.3945:0.4198:0.0	.	249	Q63HN8	RN213_HUMAN	K	2176;2225;249	ENSP00000338218:Q249K	ENSP00000338218:Q249K	Q	+	1	0	RNF213	75933256	0.004000	0.15560	0.002000	0.10522	0.077000	0.17291	0.547000	0.23299	0.251000	0.21505	-0.176000	0.13171	CAA		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		16	53	1	0	6.94e-10	8.78e-10	16	53				
EPB41L3	23136	broad.mit.edu	37	18	5419778	5419778	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr18:5419778C>T	ENST00000341928.2	-	12	1778	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	EPB41L3_ENST00000540638.2_Missense_Mutation_p.E498K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E498K|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E480K|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E498K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	480	Hydrophilic.				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						tcctcttcctcgtcccgctcc	0.572																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(1438-1440)GAG>AAG		erythrocyte membrane protein band 4.1-like 3							182.0	117.0	139.0					18																	5419778		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419778C>T	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.1438G>A	18.37:g.5419778C>T	ENSP00000343158:p.Glu480Lys					EPB41L3_uc010wzh.1_Missense_Mutation_p.E498K|EPB41L3_uc002kmu.1_Missense_Mutation_p.E498K|EPB41L3_uc010dkq.1_Missense_Mutation_p.E389K|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.E59K	p.E480K	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			12	1524	-			480			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1438G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320791	0.60634	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.83075	-1.52;-1.64;-1.52;-1.68	5.61	3.75	0.43078	.	0.383890	0.31495	N	0.007557	D	0.86936	0.6053	L	0.41961	1.31	0.80722	D	1	D;P;P;P;P	0.76494	0.999;0.829;0.555;0.846;0.878	D;B;B;B;B	0.78314	0.991;0.063;0.08;0.246;0.165	D	0.85565	0.1230	10	0.40728	T	0.16	.	14.5389	0.67980	0.2674:0.7326:0.0:0.0	.	498;59;389;498;480	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	K	480;389;498;389;480;498	ENSP00000343158:E480K;ENSP00000441174:E498K;ENSP00000341138:E480K;ENSP00000382981:E498K	ENSP00000343158:E480K	E	-	1	0	EPB41L3	5409778	1.000000	0.71417	0.217000	0.23759	0.927000	0.56198	4.626000	0.61269	0.775000	0.33450	0.655000	0.94253	GAG		0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		9	46	0	0	0	0	9	46				
ATP9B	374868	broad.mit.edu	37	18	76873335	76873335	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr18:76873335A>G	ENST00000426216.2	+	4	556	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	ATP9B_ENST00000307671.7_Missense_Mutation_p.Y180C|ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000586722.1_Missense_Mutation_p.Y180C|ATP9B_ENST00000458297.2_Missense_Mutation_p.Y128C	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	180					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCTATCTCTACACCTACTGG	0.289																																						uc002lmx.2		NA																	0				ovary(3)	3						c.(538-540)TAC>TGC		ATPase, class II, type 9B							50.0	50.0	50.0					18																	76873335		2203	4296	6499	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76873335A>G	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.539A>G	18.37:g.76873335A>G	ENSP00000398076:p.Tyr180Cys					ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.Y180C|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'UTR|ATP9B_uc002lmu.2_Missense_Mutation_p.Y180C	p.Y180C	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	4	553	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	180			Helical; (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.539A>G	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039990	0.75732	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	T;T;T	0.76316	-1.01;-1.01;-0.02	5.86	5.86	0.93980	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88157	0.6361	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.984;0.993;0.994	D	0.89389	0.3687	10	0.72032	D	0.01	.	16.2526	0.82494	1.0:0.0:0.0:0.0	.	180;180;180	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	C	103;180;180;128	ENSP00000398076:Y180C;ENSP00000304500:Y180C;ENSP00000442794:Y128C	ENSP00000304500:Y180C	Y	+	2	0	ATP9B	74974323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.771000	0.91751	2.241000	0.73720	0.482000	0.46254	TAC		0.289	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		6	39	0	0	0	0	6	39				
RPL36	25873	broad.mit.edu	37	19	5691434	5691434	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:5691434C>A	ENST00000577222.1	+	5	742	c.198C>A	c.(196-198)gaC>gaA	p.D66E	RPL36_ENST00000579446.1_Missense_Mutation_p.D66E|RPL36_ENST00000394580.2_Missense_Mutation_p.D66E|RPL36_ENST00000347512.3_Missense_Mutation_p.D66E|RPL36_ENST00000579649.1_Missense_Mutation_p.D66E			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	66					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TCTCCAAGGACAAACGGGCCC	0.627											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mcv.2		NA																	0					0						c.(196-198)GAC>GAA		ribosomal protein L36							50.0	55.0	53.0					19																	5691434		2203	4300	6503	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691434C>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.198C>A	19.37:g.5691434C>A	ENSP00000464342:p.Asp66Glu		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_uc002mcw.2_Missense_Mutation_p.D66E	p.D66E	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN			3	267	+			66					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.198C>A	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146662	0.37923	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.49720	0.77;0.77	4.31	3.19	0.36642	.	0.000000	0.85682	U	0.000000	T	0.51839	0.1698	M	0.82517	2.595	0.80722	D	1	B	0.25105	0.118	B	0.35813	0.211	T	0.57533	-0.7795	10	0.51188	T	0.08	.	7.0219	0.24918	0.0:0.8152:0.0:0.1848	.	66	Q9Y3U8	RL36_HUMAN	E	66	ENSP00000252543:D66E;ENSP00000378081:D66E	ENSP00000252543:D66E	D	+	3	2	RPL36	5642434	0.998000	0.40836	1.000000	0.80357	0.420000	0.31355	0.636000	0.24644	1.942000	0.56320	0.467000	0.42956	GAC		0.627	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		14	77	1	0	0.00185496	0.00206817	14	77				
TMEM205	374882	broad.mit.edu	37	19	11456289	11456289	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:11456289C>T	ENST00000354882.5	-	1	433	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586956.1_Missense_Mutation_p.E3K|TMEM205_ENST00000588560.1_Missense_Mutation_p.E3K|TMEM205_ENST00000593256.2_Missense_Mutation_p.E3K|TMEM205_ENST00000586590.1_Missense_Mutation_p.E3K|CCDC159_ENST00000587100.1_Intron|CCDC159_ENST00000458408.1_5'Flank|TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000447337.1_Missense_Mutation_p.E3K|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000589555.1_Missense_Mutation_p.E3K			Q6UW68	TM205_HUMAN	transmembrane protein 205	3						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TTCCCGCCTTCCTCCATCTTG	0.587																																						uc002mrb.2		NA																	0					0						c.(7-9)GAA>AAA		transmembrane protein 205							104.0	74.0	84.0					19																	11456289		2203	4300	6503	SO:0001583	missense	374882					integral to membrane		g.chr19:11456289C>T	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.7G>A	19.37:g.11456289C>T	ENSP00000346954:p.Glu3Lys					TMEM205_uc002mra.2_Missense_Mutation_p.E3K|TMEM205_uc002mqz.2_Missense_Mutation_p.E3K|TMEM205_uc002mrc.2_Missense_Mutation_p.E3K|CCDC159_uc010xlr.1_5'Flank|CCDC159_uc010xls.1_5'Flank|CCDC159_uc010xlt.1_5'Flank|CCDC159_uc010xlu.1_5'Flank|CCDC159_uc010xlv.1_5'Flank	p.E3K	NM_001145416	NP_001138888	Q6UW68	TM205_HUMAN			2	195	-			3						Missense_Mutation	SNP	ENST00000354882.5	37	c.7G>A	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458623	0.63401	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	5.18	0.2	0.15181	.	0.782727	0.11084	N	0.601522	T	0.26955	0.0660	L	0.47716	1.5	0.21147	N	0.999772	B	0.02656	0.0	B	0.04013	0.001	T	0.27706	-1.0066	9	0.10377	T	0.69	0.0018	2.7977	0.05406	0.1334:0.5161:0.1182:0.2323	.	3	Q6UW68	TM205_HUMAN	K	3	.	ENSP00000346954:E3K	E	-	1	0	TMEM205	11317289	0.543000	0.26434	0.714000	0.30535	0.829000	0.46940	0.400000	0.20932	0.323000	0.23307	-0.291000	0.09656	GAA		0.587	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		3	31	0	0	0	0	3	31				
ZNF136	7695	broad.mit.edu	37	19	12297983	12297983	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:12297983C>T	ENST00000343979.4	+	4	930	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	ZNF136_ENST00000398616.2_Silent_p.L198L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	264					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTTTCATTCTCTGAGTTCATT	0.388																																						uc002mti.2		NA																	0				ovary(1)|pancreas(1)	2						c.(790-792)CTG>TTG		zinc finger protein 136							73.0	70.0	71.0					19																	12297983		2203	4300	6503	SO:0001819	synonymous_variant	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297983C>T	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.790C>T	19.37:g.12297983C>T						ZNF136_uc010xmh.1_Silent_p.L198L	p.L264L	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	890	+			264			C2H2-type 5.			Silent	SNP	ENST00000343979.4	37	c.790C>T	CCDS32916.1																																																																																				0.388	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		24	47	0	0	0	0	24	47				
UPF1	5976	broad.mit.edu	37	19	18966828	18966828	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:18966828A>G	ENST00000599848.1	+	12	1881	c.1672A>G	c.(1672-1674)Aag>Gag	p.K558E	UPF1_ENST00000262803.5_Missense_Mutation_p.K547E			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	558					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTCTGCGCCAAGAGCCGTGA	0.612																																						uc002nkg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1672-1674)AAG>GAG		regulator of nonsense transcripts 1							72.0	57.0	62.0					19																	18966828		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18966828A>G	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1672A>G	19.37:g.18966828A>G	ENSP00000470142:p.Lys558Glu					UPF1_uc002nkf.2_Missense_Mutation_p.K547E	p.K558E	NM_002911	NP_002902	Q92900	RENT1_HUMAN			12	1947	+			558					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1672A>G		.	.	.	.	.	.	.	.	.	.	A	21.4	4.142707	0.77888	.	.	ENSG00000005007	ENST00000262803	D	0.81908	-1.55	4.46	4.46	0.54185	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.62016	1.91	0.80722	D	1	P;P	0.42039	0.769;0.727	B;B	0.38985	0.244;0.287	D	0.83588	0.0121	10	0.87932	D	0	-42.3388	13.177	0.59633	1.0:0.0:0.0:0.0	.	558;547	Q92900;Q92900-2	RENT1_HUMAN;.	E	547	ENSP00000262803:K547E	ENSP00000262803:K547E	K	+	1	0	UPF1	18827828	1.000000	0.71417	0.972000	0.41901	0.969000	0.65631	8.642000	0.91036	1.783000	0.52377	0.533000	0.62120	AAG		0.612	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		5	18	0	0	0	0	5	18				
NCAN	1463	broad.mit.edu	37	19	19338426	19338426	+	Missense_Mutation	SNP	C	C	T	rs111534277	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:19338426C>T	ENST00000252575.6	+	8	2096	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	NCAN_ENST00000538881.1_Missense_Mutation_p.T117M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	666					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)	GCCACCGCCACGGCTCCACCC	0.612													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17435	0.0		0.0	False		,,,				2504	0.0					uc002nlz.2		NA																	0				ovary(4)	4						c.(1996-1998)ACG>ATG		chondroitin sulfate proteoglycan 3 precursor		C	MET/THR	6,4400	11.4+/-27.6	0,6,2197	93.0	96.0	95.0		1997	4.4	0.0	19	dbSNP_132	95	0,8600		0,0,4300	yes	missense	NCAN	NM_004386.2	81	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	666/1322	19338426	6,13000	2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338426C>T	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.1997C>T	19.37:g.19338426C>T	ENSP00000252575:p.Thr666Met					NCAN_uc010ecc.1_Missense_Mutation_p.T230M	p.T666M	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2096	+			666					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1997C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380303	0.24944	0.001362	0.0	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85339	-1.79;-1.97	4.4	4.4	0.53042	.	0.623617	0.13362	N	0.393600	D	0.82296	0.5006	L	0.27053	0.805	0.09310	N	1	D;D	0.69078	0.997;0.989	P;P	0.50754	0.649;0.548	T	0.74253	-0.3725	10	0.54805	T	0.06	.	12.6975	0.57012	0.0:1.0:0.0:0.0	.	680;666	Q4LE67;O14594	.;NCAN_HUMAN	M	680;666;117	ENSP00000252575:T666M;ENSP00000442202:T117M	ENSP00000252575:T666M	T	+	2	0	NCAN	19199426	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.795000	0.26972	2.453000	0.82957	0.561000	0.74099	ACG		0.612	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		20	108	0	0	0	0	20	108				
ZNF91	7644	broad.mit.edu	37	19	23544891	23544891	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:23544891T>A	ENST00000300619.7	-	4	1095	c.890A>T	c.(889-891)gAa>gTa	p.E297V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E265V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	297					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCCACATTCTTCACATTTGTA	0.393																																						uc002nre.2		NA																	0					0						c.(889-891)GAA>GTA		zinc finger protein 91							84.0	89.0	87.0					19																	23544891		2186	4289	6475	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544891T>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.890A>T	19.37:g.23544891T>A	ENSP00000300619:p.Glu297Val					ZNF91_uc010xrj.1_Missense_Mutation_p.E265V	p.E297V	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1003	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	297			C2H2-type 6.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.890A>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681622	0.29872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07688	3.17;3.17	2.03	-0.935	0.10423	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	L	0.52011	1.625	0.09310	N	1	B;B	0.21071	0.041;0.051	B;B	0.17979	0.012;0.02	T	0.28870	-1.0030	9	0.56958	D	0.05	.	7.6807	0.28511	0.0:0.0:0.411:0.589	.	265;297	Q05481-2;Q05481	.;ZNF91_HUMAN	V	297;265	ENSP00000300619:E297V;ENSP00000380272:E265V	ENSP00000300619:E297V	E	-	2	0	ZNF91	23336731	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.589000	0.00900	-0.515000	0.06479	0.234000	0.17832	GAA		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		18	86	0	0	0	0	18	86				
ATP4A	495	broad.mit.edu	37	19	36051747	36051747	+	Missense_Mutation	SNP	C	C	T	rs148572774	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:36051747C>T	ENST00000262623.3	-	5	536	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	170					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTAAAGCTGGCGATGATGTTG	0.562																																						uc002oal.1		NA																	0				ovary(1)	1						c.(508-510)GCC>ACC		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						160.0	141.0	147.0					19																	36051747		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051747C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.508G>A	19.37:g.36051747C>T	ENSP00000262623:p.Ala170Thr					ATP4A_uc010eee.1_5'Flank	p.A170T	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	537	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		170			Cytoplasmic (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.508G>A	CCDS12467.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	23.0	4.363849	0.82353	.	.	ENSG00000105675	ENST00000262623	D	0.89617	-2.54	3.57	3.57	0.40892	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000018	D	0.93858	0.8035	M	0.84773	2.715	0.44711	D	0.997709	D	0.65815	0.995	D	0.66497	0.944	D	0.94624	0.7816	10	0.87932	D	0	.	12.7073	0.57067	0.0:1.0:0.0:0.0	.	170	P20648	ATP4A_HUMAN	T	170	ENSP00000262623:A170T	ENSP00000262623:A170T	A	-	1	0	ATP4A	40743587	1.000000	0.71417	0.981000	0.43875	0.798000	0.45092	7.635000	0.83286	1.831000	0.53308	0.197000	0.17608	GCC		0.562	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		13	95	0	0	0	0	13	95				
IRGC	56269	broad.mit.edu	37	19	44222644	44222644	+	Splice_Site	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:44222644G>A	ENST00000244314.5	+	2	133		c.e2-1			NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema							membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCCTCTGCAGGCGCTGAGGA	0.627																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e2-1		immunity-related GTPase family, cinema																																				SO:0001630	splice_region_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222644G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.-66-1G>A	19.37:g.44222644G>A								NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	82	+		Prostate(69;0.0435)						Q05BR8	Splice_Site	SNP	ENST00000244314.5	37	c.-65_splice	CCDS12629.1																																																																																				0.627	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	Intron	20	64	0	0	0	0	20	64				
BCL3	602	broad.mit.edu	37	19	45262845	45262845	+	Silent	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:45262845C>A	ENST00000164227.5	+	9	1582	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	446	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GGCCGGTGCCCCCCTCCCCAG	0.667			T	IGH@	CLL																																	uc010xxe.1		NA		Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL 		0				ovary(1)|lung(1)	2						c.(1336-1338)CCC>CCA		B-cell CLL/lymphoma 3							29.0	36.0	34.0					19																	45262845		2198	4290	6488	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262845C>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1338C>A	19.37:g.45262845C>A							p.P446P	NM_005178	NP_005169	P20749	BCL3_HUMAN			9	1408	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	446			Pro/Ser-rich.			Silent	SNP	ENST00000164227.5	37	c.1338C>A	CCDS12642.2																																																																																				0.667	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		19	60	1	0	2.94e-08	3.67e-08	19	60				
ZNF415	55786	broad.mit.edu	37	19	53611805	53611805	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:53611805C>A	ENST00000500065.4	-	4	1826	c.1493G>T	c.(1492-1494)tGt>tTt	p.C498F	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.C510F|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.C268F|ZNF415_ENST00000448501.1_Missense_Mutation_p.C546F|ZNF415_ENST00000440291.1_Missense_Mutation_p.C485F|ZNF415_ENST00000243643.4_Missense_Mutation_p.C498F|ZNF415_ENST00000455735.2_Missense_Mutation_p.C546F|ZNF415_ENST00000597748.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ACACTCATTACATTTGTAAGG	0.413																																						uc002qax.2		NA																	0				ovary(1)	1						c.(1636-1638)TGT>TTT		RecName: Full=Zinc finger protein 415;							195.0	175.0	182.0					19																	53611805		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53611805C>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1493G>T	19.37:g.53611805C>A	ENSP00000439435:p.Cys498Phe					ZNF415_uc002qat.2_Missense_Mutation_p.C510F|ZNF415_uc002qaw.2_Missense_Mutation_p.C498F|ZNF415_uc010yds.1_Missense_Mutation_p.C498F|ZNF415_uc010ydt.1_Missense_Mutation_p.C498F|ZNF415_uc002qau.2_Missense_Mutation_p.C485F|ZNF415_uc002qav.2_Missense_Mutation_p.C510F|ZNF415_uc002qba.2_Missense_Mutation_p.C268F|ZNF415_uc002qay.2_Missense_Mutation_p.C485F|ZNF415_uc002qaz.2_Missense_Mutation_p.C546F	p.C546F	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1986	-			546			C2H2-type 11.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1637G>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971122	0.53614	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.68	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94351	0.8184	H	0.96943	3.91	0.38020	D	0.93481	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;1.0;0.997;0.998;0.995;1.0	D	0.96263	0.9192	9	0.87932	D	0	.	12.4969	0.55933	0.0:1.0:0.0:0.0	.	498;546;546;498;485;510	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	F	498;498;546;510;546;485	ENSP00000243643:C498F;ENSP00000439435:C498F;ENSP00000396492:C546F;ENSP00000395055:C510F;ENSP00000388787:C546F;ENSP00000414601:C485F	ENSP00000243643:C498F	C	-	2	0	ZNF415	58303617	0.858000	0.29795	0.010000	0.14722	0.011000	0.07611	2.229000	0.42990	1.509000	0.48786	0.491000	0.48974	TGT		0.413	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		25	161	1	0	4.88e-14	6.29e-14	25	161				
LILRA1	11024	broad.mit.edu	37	19	55106221	55106221	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:55106221G>A	ENST00000251372.3	+	4	344	c.162G>A	c.(160-162)gaG>gaA	p.E54E	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Silent_p.E54E	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	54	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGATCCTGGAGACCCAGGAGT	0.582																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(160-162)GAG>GAA		leukocyte immunoglobulin-like receptor,							102.0	100.0	101.0					19																	55106221		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106221G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.162G>A	19.37:g.55106221G>A						LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.E54E	p.E54E	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	344	+			54			Ig-like C2-type 1.|Extracellular (Potential).		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.162G>A	CCDS12901.1																																																																																				0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		15	85	0	0	0	0	15	85				
APOB	338	broad.mit.edu	37	2	21255246	21255246	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:21255246C>T	ENST00000233242.1	-	10	1459	c.1332G>A	c.(1330-1332)gcG>gcA	p.A444A	APOB_ENST00000399256.4_Silent_p.A444A	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	444	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)	p.A444A(1)		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)					CGTGGCTCAGCGCATACAAGG	0.547																																						uc002red.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1330-1332)GCG>GCA		apolipoprotein B precursor	Atorvastatin(DB01076)						85.0	83.0	83.0					2																	21255246		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:21255246C>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.1332G>A	2.37:g.21255246C>T							p.A444A	NM_000384	NP_000375	P04114	APOB_HUMAN			10	1460	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		444			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.1332G>A	CCDS1703.1																																																																																				0.547	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	75	0	0	0	0	4	75				
DNMT3A	1788	broad.mit.edu	37	2	25463264	25463264	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:25463264G>A	ENST00000264709.3	-	19	2566	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	DNMT3A_ENST00000402667.1_Silent_p.P520P|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Silent_p.P554P|DNMT3A_ENST00000321117.5_Silent_p.P743P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	743	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCCTCCTTGGGCCGCGCAT	0.567			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2227-2229)CCC>CCT		DNA cytosine methyltransferase 3 alpha isoform							88.0	81.0	83.0					2																	25463264		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463264G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2229C>T	2.37:g.25463264G>A						DNMT3A_uc002rgd.2_Silent_p.P743P|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.P554P	p.P743P	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			19	2486	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		743					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.2229C>T	CCDS33157.1																																																																																				0.567	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		22	85	0	0	0	0	22	85				
SMEK2	57223	broad.mit.edu	37	2	55808822	55808822	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:55808822T>A	ENST00000345102.5	-	8	1547	c.1246A>T	c.(1246-1248)Att>Ttt	p.I416F	SMEK2_ENST00000272313.5_Missense_Mutation_p.I416F|SMEK2_ENST00000407823.3_Missense_Mutation_p.I416F	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	416					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACATTAATAAGAAGAATA	0.373																																						uc002rzc.2		NA																	0				skin(1)	1						c.(1246-1248)ATT>TTT		SMEK homolog 2, suppressor of mek1 isoform 1							73.0	71.0	72.0					2																	55808822		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55808822T>A	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1246A>T	2.37:g.55808822T>A	ENSP00000339769:p.Ile416Phe					SMEK2_uc002rzb.2_Missense_Mutation_p.I416F|SMEK2_uc002rzd.2_Missense_Mutation_p.I416F|SMEK2_uc002rza.2_Missense_Mutation_p.I292F	p.I416F	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		8	1621	-			416					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1246A>T	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733345	0.69189	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.64438	1.51;-0.1;0.69	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	L	0.61387	1.9	0.80722	D	1	B;P;B;P	0.36465	0.082;0.554;0.01;0.554	B;B;B;B	0.40228	0.053;0.323;0.009;0.323	T	0.61686	-0.7012	10	0.28530	T	0.3	-14.91	16.1116	0.81266	0.0:0.0:0.0:1.0	.	416;416;416;416	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	F	416	ENSP00000272313:I416F;ENSP00000385912:I416F;ENSP00000339769:I416F	ENSP00000272313:I416F	I	-	1	0	SMEK2	55662326	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.997000	0.88414	2.270000	0.75569	0.477000	0.44152	ATT		0.373	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		12	48	0	0	0	0	12	48				
ST6GAL2	84620	broad.mit.edu	37	2	107459975	107459975	+	Silent	SNP	G	G	A	rs142520495		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:107459975G>A	ENST00000409382.3	-	2	1069	c.459C>T	c.(457-459)ccC>ccT	p.P153P	ST6GAL2_ENST00000409087.3_Silent_p.P153P|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.P153P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	153					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)	p.P153P(1)		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						CTGGCTCCCCGGGGGAAGGGA	0.622																																						uc002tdq.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(457-459)CCC>CCT		ST6 beta-galactosamide							82.0	99.0	93.0					2																	107459975		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:107459975G>A	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.459C>T	2.37:g.107459975G>A						ST6GAL2_uc002tdr.2_Silent_p.P153P|ST6GAL2_uc002tds.3_Silent_p.P153P	p.P153P	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	578	-			153			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.459C>T	CCDS2073.1																																																																																				0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		16	252	0	0	0	0	16	252				
SPOPL	339745	broad.mit.edu	37	2	139316621	139316621	+	Silent	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316621A>C	ENST00000280098.4	+	6	889	c.510A>C	c.(508-510)atA>atC	p.I170I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	170					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CAGTAAACATATCAGGACATA	0.353																																						uc002tvh.2		NA																	0				skin(2)|breast(1)	3						c.(508-510)ATA>ATC		speckle-type POZ protein-like							80.0	86.0	84.0					2																	139316621		2203	4300	6503	SO:0001819	synonymous_variant	339745					nucleus		g.chr2:139316621A>C		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.510A>C	2.37:g.139316621A>C							p.I170I	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	6	910	+			170						Silent	SNP	ENST00000280098.4	37	c.510A>C	CCDS33298.1																																																																																				0.353	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			14	77	0	0	0	0	14	77				
SPOPL	339745	broad.mit.edu	37	2	139316682	139316683	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316682_139316683GG>TT	ENST00000280098.4	+	6	950_951	c.571_572GG>TT	c.(571-573)GGt>TTt	p.G191F		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	191					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGAAGATTTAGGTAATCTCTGG	0.366																																						uc002tvh.2		NA																	0				skin(2)|breast(1)	3						c.(571-573)GGT>TTT		speckle-type POZ protein-like																																				SO:0001583	missense	339745					nucleus		g.chr2:139316682_139316683GG>TT		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	Exception_encountered	2.37:g.139316682_139316683delinsTT	ENSP00000280098:p.Gly191Phe						p.G191F	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	6	971_972	+			191						Missense_Mutation	DNP	ENST00000280098.4	37	c.571_572GG>TT	CCDS33298.1																																																																																				0.366	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			27	100	0	0	0	0	27	100				
TANC1	85461	broad.mit.edu	37	2	160031502	160031502	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:160031502C>G	ENST00000263635.6	+	12	1779	c.1542C>G	c.(1540-1542)taC>taG	p.Y514*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Y408*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	514					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACAACACGTACACTTGCCTGG	0.577																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1540-1542)TAC>TAG		tetratricopeptide repeat, ankyrin repeat and							281.0	282.0	282.0					2																	160031502		2149	4247	6396	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031502C>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1542C>G	2.37:g.160031502C>G	ENSP00000263635:p.Tyr514*					TANC1_uc010fol.1_Nonsense_Mutation_p.Y408*|TANC1_uc010zcm.1_Nonsense_Mutation_p.Y506*|TANC1_uc010fom.1_Nonsense_Mutation_p.Y320*|TANC1_uc002uai.1_5'Flank	p.Y514*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			12	1816	+			514					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.1542C>G	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	37	6.504076	0.97620	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1144	0.42583	0.0:0.8521:0.0:0.1479	.	.	.	.	X	408;514	.	ENSP00000263635:Y514X	Y	+	3	2	TANC1	159739748	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	3.338000	0.52128	2.638000	0.89438	0.655000	0.94253	TAC		0.577	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			46	308	0	0	0	0	46	308				
GAD1	2571	broad.mit.edu	37	2	171686090	171686090	+	Missense_Mutation	SNP	G	G	T	rs200092679		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:171686090G>T	ENST00000358196.3	+	4	801	c.251G>T	c.(250-252)cGg>cTg	p.R84L	GAD1_ENST00000344257.5_Missense_Mutation_p.R84L|GAD1_ENST00000375272.1_Missense_Mutation_p.R84L|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	84					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AACAGCGACCGGGATGCCCGC	0.547																																						uc002ugi.2		NA																	0				ovary(1)	1						c.(250-252)CGG>CTG		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						69.0	78.0	75.0					2																	171686090		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171686090G>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.251G>T	2.37:g.171686090G>T	ENSP00000350928:p.Arg84Leu					GAD1_uc002ugh.2_Missense_Mutation_p.R84L	p.R84L	NM_000817	NP_000808	Q99259	DCE1_HUMAN			4	673	+			84					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.251G>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602064	0.46423	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T	0.79454	-1.27;2.31;0.45;0.45;-1.19;-1.19	5.37	1.53	0.23141	.	0.665911	0.15658	N	0.251059	T	0.65678	0.2714	L	0.50333	1.59	0.09310	N	1	B;P	0.34780	0.001;0.468	B;B	0.28553	0.001;0.091	T	0.57906	-0.7730	10	0.66056	D	0.02	0.2862	5.3874	0.16226	0.4045:0.1393:0.4562:0.0	.	84;84	Q99259;Q99259-3	DCE1_HUMAN;.	L	84	ENSP00000402366:R84L;ENSP00000350928:R84L;ENSP00000364421:R84L;ENSP00000341167:R84L;ENSP00000405917:R84L;ENSP00000394255:R84L	ENSP00000341167:R84L	R	+	2	0	GAD1	171394336	0.880000	0.30214	0.315000	0.25238	0.938000	0.57974	1.326000	0.33735	0.231000	0.21079	0.542000	0.68232	CGG		0.547	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			4	89	1	0	0.000602214	0.000675316	4	89				
NFE2L2	4780	broad.mit.edu	37	2	178098950	178098950	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:178098950A>C	ENST00000397062.3	-	2	649	c.95T>G	c.(94-96)gTa>gGa	p.V32G	NFE2L2_ENST00000397063.4_Missense_Mutation_p.V16G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.V16G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.V16G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.V16G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	32					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V32G(2)|p.V32del(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTCTCGACTTACTCCAAGATC	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		3	Substitution - Missense(2)|Deletion - In frame(1)		lung(2)|oesophagus(1)	central_nervous_system(1)	1						c.(94-96)GTA>GGA		nuclear factor erythroid 2-like 2 isoform 1							72.0	65.0	67.0					2																	178098950		1843	4103	5946	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098950A>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.95T>G	2.37:g.178098950A>C	ENSP00000380252:p.Val32Gly	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.V16G|NFE2L2_uc010zfa.1_Missense_Mutation_p.V16G|NFE2L2_uc002uli.3_Missense_Mutation_p.V16G|NFE2L2_uc010fra.2_Missense_Mutation_p.V16G|NFE2L2_uc010frb.2_Missense_Mutation_p.V16G	p.V32G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	650	-			32					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.95T>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191743	0.58017	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.78	3.45	0.39498	.	0.147487	0.64402	D	0.000011	T	0.28896	0.0717	M	0.74258	2.255	0.58432	D	0.999999	B;B;P;B	0.34724	0.376;0.104;0.465;0.376	B;B;B;B	0.31101	0.115;0.024;0.124;0.115	T	0.13980	-1.0489	10	0.66056	D	0.02	.	5.6053	0.17377	0.6782:0.0:0.3218:0.0	.	16;16;16;32	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	16;32;16;16;16;16;16	ENSP00000380253:V16G;ENSP00000380252:V32G;ENSP00000411575:V16G;ENSP00000391590:V16G;ENSP00000400073:V16G;ENSP00000412191:V16G;ENSP00000410015:V16G	ENSP00000380252:V32G	V	-	2	0	NFE2L2	177807196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.522000	0.60539	1.032000	0.39892	0.460000	0.39030	GTA		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		6	34	0	0	0	0	6	34				
PDE11A	50940	broad.mit.edu	37	2	178936794	178936794	+	Missense_Mutation	SNP	C	C	T	rs149522660	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:178936794C>T	ENST00000286063.6	-	1	688	c.371G>A	c.(370-372)aGt>aAt	p.S124N	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	124					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCGGGCAAAACTCTTCCTTAG	0.612									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(370-372)AGT>AAT		phosphodiesterase 11A isoform 4							79.0	84.0	82.0					2																	178936794		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936794C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.371G>A	2.37:g.178936794C>T	ENSP00000286063:p.Ser124Asn					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.S124N	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	689	-			124					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.371G>A	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725881	0.30593	.	.	ENSG00000128655	ENST00000286063	T	0.68181	-0.31	5.09	3.15	0.36227	.	0.490770	0.24081	N	0.041730	T	0.48502	0.1503	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40887	-0.9539	10	0.05959	T	0.93	.	14.0204	0.64550	0.0:0.7117:0.2883:0.0	.	124	Q9HCR9	PDE11_HUMAN	N	124	ENSP00000286063:S124N	ENSP00000286063:S124N	S	-	2	0	PDE11A	178645040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.336000	0.43938	1.135000	0.42183	0.591000	0.81541	AGT		0.612	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			17	54	0	0	0	0	17	54				
TTN	7273	broad.mit.edu	37	2	179598558	179598558	+	Silent	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:179598558G>T	ENST00000591111.1	-	51	14831	c.14607C>A	c.(14605-14607)acC>acA	p.T4869T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T3942T|TTN_ENST00000589042.1_Silent_p.T5186T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12251	Ig-like 29.				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)			CAGCTTGCAGGGTAACGGTTT	0.413																																						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.(11824-11826)ACC>ACA		titin isoform N2-A							121.0	116.0	118.0					2																	179598558		1941	4145	6086	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598558G>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.14607C>A	2.37:g.179598558G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T603T	p.T3942T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12050	-			4869					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.11826C>A																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	72	1	0	1.36e-06	1.68e-06	14	72				
TTN	7273	broad.mit.edu	37	2	179640610	179640610	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:179640610G>A	ENST00000591111.1	-	28	6205	c.5981C>T	c.(5980-5982)tCg>tTg	p.S1994L	RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S1994L|TTN_ENST00000589042.1_Missense_Mutation_p.S1994L|TTN_ENST00000359218.5_Missense_Mutation_p.S1948L|TTN_ENST00000360870.5_Missense_Mutation_p.S1994L|TTN_ENST00000460472.2_Missense_Mutation_p.S1948L|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S1948L			Q8WZ42	TITIN_HUMAN	titin	12808					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)			CAGCTCTTCCGACTCTTCAGG	0.438																																						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.(5980-5982)TCG>TTG		titin isoform N2-A							113.0	120.0	118.0					2																	179640610		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640610G>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.5981C>T	2.37:g.179640610G>A	ENSP00000465570:p.Ser1994Leu					TTN_uc010zfh.1_Missense_Mutation_p.S1948L|TTN_uc010zfi.1_Missense_Mutation_p.S1948L|TTN_uc010zfj.1_Missense_Mutation_p.S1948L|TTN_uc002unb.2_Missense_Mutation_p.S1994L|uc002unc.1_5'Flank	p.S1994L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6205	-			1994					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.5981C>T		.	.	.	.	.	.	.	.	.	.	G	11.95	1.791603	0.31685	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;0.02;-0.0;-0.01;0.16	5.12	4.18	0.49190	Ribonuclease H-like (1);	.	.	.	.	T	0.72614	0.3482	L	0.32530	0.975	0.27738	N	0.944575	D;D;D;D;D	0.89917	0.991;0.991;0.991;0.991;1.0	P;P;P;P;D	0.64687	0.485;0.485;0.485;0.485;0.928	T	0.66806	-0.5830	9	0.87932	D	0	.	15.0295	0.71696	0.0:0.1427:0.8573:0.0	.	1948;1948;1948;1994;1994	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1994;1948;1948;1948;1948;1994	ENSP00000343764:S1994L;ENSP00000434586:S1948L;ENSP00000340554:S1948L;ENSP00000352154:S1948L;ENSP00000354117:S1994L	ENSP00000340554:S1948L	S	-	2	0	TTN	179348855	1.000000	0.71417	0.974000	0.42286	0.932000	0.56968	7.885000	0.87282	2.387000	0.81309	0.609000	0.83330	TCG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	126	0	0	0	0	21	126				
CPS1	1373	broad.mit.edu	37	2	211532931	211532931	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:211532931A>T	ENST00000233072.5	+	34	4220	c.4024A>T	c.(4024-4026)Att>Ttt	p.I1342F	CPS1_ENST00000430249.2_Missense_Mutation_p.I1348F|CPS1_ENST00000451903.2_Missense_Mutation_p.I891F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1342					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGTGAAGGTATTCATACAGC	0.378																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(4024-4026)ATT>TTT		carbamoyl-phosphate synthetase 1 isoform b							80.0	74.0	76.0					2																	211532931		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211532931A>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4024A>T	2.37:g.211532931A>T	ENSP00000233072:p.Ile1342Phe					CPS1_uc010fur.2_Missense_Mutation_p.I1348F|CPS1_uc010fus.2_Missense_Mutation_p.I891F	p.I1342F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	34	4156	+			1342					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.4024A>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122489	0.37436	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.91124	-2.79;-2.79;-2.79	6.06	6.06	0.98353	ATP-grasp fold, subdomain 2 (1);	0.047123	0.85682	D	0.000000	T	0.76378	0.3979	N	0.02345	-0.59	0.51233	D	0.999914	B;B	0.18310	0.027;0.027	B;B	0.18871	0.023;0.023	T	0.72398	-0.4306	10	0.34782	T	0.22	-11.868	9.0508	0.36374	0.8936:0.0:0.1064:0.0	.	1352;1342	Q59HF8;P31327	.;CPSM_HUMAN	F	1348;1350;1342;891	ENSP00000402608:I1348F;ENSP00000233072:I1342F;ENSP00000406136:I891F	ENSP00000233072:I1342F	I	+	1	0	CPS1	211241176	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.760000	0.68793	2.323000	0.78572	0.528000	0.53228	ATT		0.378	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			14	56	0	0	0	0	14	56				
TTLL4	9654	broad.mit.edu	37	2	219609873	219609873	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:219609873A>G	ENST00000392102.1	+	6	2043	c.1703A>G	c.(1702-1704)gAg>gGg	p.E568G	TTLL4_ENST00000457313.1_Missense_Mutation_p.E403G|TTLL4_ENST00000442769.1_Missense_Mutation_p.E568G|TTLL4_ENST00000258398.4_Missense_Mutation_p.E568G	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	568					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCCAATCATGAGAAAGTTGTC	0.473																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(1702-1704)GAG>GGG		tubulin tyrosine ligase-like family, member 4							205.0	197.0	200.0					2																	219609873		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219609873A>G		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1703A>G	2.37:g.219609873A>G	ENSP00000375951:p.Glu568Gly					TTLL4_uc010zkl.1_Missense_Mutation_p.E403G|TTLL4_uc010fvx.2_Missense_Mutation_p.E568G|TTLL4_uc010zkm.1_5'Flank	p.E568G	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	6	2073	+		Renal(207;0.0915)	568					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1703A>G	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652683	0.67472	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05513	3.64;3.86;3.43;3.86	5.3	5.3	0.74995	.	0.554166	0.16676	N	0.204150	T	0.13543	0.0328	N	0.22421	0.69	0.46542	D	0.999094	B;D;B	0.76494	0.126;0.999;0.156	B;D;B	0.66084	0.015;0.941;0.062	T	0.07849	-1.0751	10	0.51188	T	0.08	.	14.586	0.68326	1.0:0.0:0.0:0.0	.	403;568;568	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	G	403;568;568;568	ENSP00000393332:E403G;ENSP00000375951:E568G;ENSP00000396555:E568G;ENSP00000258398:E568G	ENSP00000258398:E568G	E	+	2	0	TTLL4	219318117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.929000	0.75852	2.226000	0.72624	0.533000	0.62120	GAG		0.473	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		30	94	0	0	0	0	30	94				
CUL3	8452	broad.mit.edu	37	2	225365129	225365129	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:225365129T>A	ENST00000264414.4	-	11	1899	c.1561A>T	c.(1561-1563)Aag>Tag	p.K521*	CUL3_ENST00000344951.4_Nonsense_Mutation_p.K455*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.K497*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.K497*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	521					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATGTTGCACTTTGGTGTGGCT	0.413																																						uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(1561-1563)AAG>TAG		cullin 3							221.0	196.0	205.0					2																	225365129		2203	4300	6503	SO:0001587	stop_gained	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225365129T>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1561A>T	2.37:g.225365129T>A	ENSP00000264414:p.Lys521*					CUL3_uc010zls.1_Nonsense_Mutation_p.K455*|CUL3_uc010fwy.1_Nonsense_Mutation_p.K527*|CUL3_uc002vnz.1_5'UTR	p.K521*	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	11	1945	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	521					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	37	c.1561A>T	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	44	10.837636	0.99476	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	X	521;455;497;497	.	ENSP00000264414:K521X	K	-	1	0	CUL3	225073373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.302000	0.77476	0.533000	0.62120	AAG		0.413	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			20	105	0	0	0	0	20	105				
MACROD2	140733	broad.mit.edu	37	20	15210612	15210612	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:15210612G>T	ENST00000310348.4	+	6	445	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	MACROD2_ENST00000217246.4_Missense_Mutation_p.A149S|MACROD2_ENST00000402914.1_5'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	149	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGGCCAATAGCCAGGGGCCA	0.358																																						uc002wou.2		NA																	0					0						c.(445-447)GCC>TCC		MACRO domain containing 2 isoform 1							84.0	78.0	80.0					20																	15210612		1806	4068	5874	SO:0001583	missense	140733							g.chr20:15210612G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.445G>T	20.37:g.15210612G>T	ENSP00000309809:p.Ala149Ser					MACROD2_uc002wot.2_Missense_Mutation_p.A149S|MACROD2_uc002woz.2_5'UTR	p.A149S	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			6	709	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	149			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.445G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074867	0.76415	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.22539	1.95;1.95	5.76	5.76	0.90799	Appr-1-p processing (3);	0.000000	0.64402	D	0.000005	T	0.47637	0.1456	M	0.71581	2.175	0.80722	D	1	D;P	0.76494	0.999;0.783	D;P	0.91635	0.999;0.85	T	0.09465	-1.0673	10	0.23891	T	0.37	-7.6106	20.3431	0.98773	0.0:0.0:1.0:0.0	.	149;149	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	149	ENSP00000217246:A149S;ENSP00000309809:A149S	ENSP00000217246:A149S	A	+	1	0	MACROD2	15158612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.162000	0.64942	2.880000	0.98712	0.650000	0.86243	GCC		0.358	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		5	31	1	0	2.77e-08	3.47e-08	5	31				
CFAP61	26074	broad.mit.edu	37	20	20150070	20150070	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:20150070G>A	ENST00000245957.5	+	13	1427	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D451N|C20orf26_ENST00000451767.2_Missense_Mutation_p.D451N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		451										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTCGAGCAGGACCTCTACGT	0.493																																						uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1351-1353)GAC>AAC		hypothetical protein LOC26074							101.0	90.0	94.0					20																	20150070		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20150070G>A																												ENST00000245957.5:c.1351G>A	20.37:g.20150070G>A	ENSP00000245957:p.Asp451Asn					C20orf26_uc010zse.1_Missense_Mutation_p.D431N|C20orf26_uc010zsf.1_Missense_Mutation_p.D451N	p.D451N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	13	1427	+			451					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1351G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.807992	0.70797	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	T;T;T	0.11712	2.75;2.75;2.75	5.87	5.87	0.94306	.	0.124009	0.52532	D	0.000063	T	0.25531	0.0621	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.967;0.992	D;P;P	0.87578	0.998;0.604;0.856	T	0.00116	-1.2036	10	0.31617	T	0.26	.	17.4969	0.87720	0.0:0.0:1.0:0.0	.	451;431;451	Q8NHU2-3;F8W6K4;Q8NHU2	.;.;CT026_HUMAN	N	391;45;431;451;451;451	ENSP00000245957:D451N;ENSP00000366521:D451N;ENSP00000414537:D451N	ENSP00000245957:D451N	D	+	1	0	C20orf26	20098070	1.000000	0.71417	0.823000	0.32752	0.280000	0.26924	6.672000	0.74477	2.941000	0.99782	0.655000	0.94253	GAC		0.493	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			14	71	0	0	0	0	14	71				
DLGAP4	22839	broad.mit.edu	37	20	35060815	35060815	+	Missense_Mutation	SNP	G	G	A	rs141000110	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:35060815G>A	ENST00000373907.2	+	2	894	c.695G>A	c.(694-696)cGc>cAc	p.R232H	DLGAP4_ENST00000401952.2_Missense_Mutation_p.R232H|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R232H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R232H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	232					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACACTAGGCCGCCAGGCAGAA	0.597																																						uc002xff.2		NA																	0				skin(2)|ovary(1)	3						c.(694-696)CGC>CAC		disks large-associated protein 4 isoform a		G	HIS/ARG	0,4404		0,0,2202	74.0	72.0	72.0		695	5.2	1.0	20	dbSNP_134	72	4,8596	3.7+/-12.6	0,4,4296	yes	missense	DLGAP4	NM_014902.4	29	0,4,6498	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	232/990	35060815	4,13000	2202	4300	6502	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060815G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.695G>A	20.37:g.35060815G>A	ENSP00000363014:p.Arg232His					DLGAP4_uc010zvp.1_Missense_Mutation_p.R232H	p.R232H	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	1130	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	232					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.695G>A		.	.	.	.	.	.	.	.	.	.	G	18.57	3.651526	0.67472	0.0	4.65E-4	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.16324	2.35;2.35;2.36;2.36	5.24	5.24	0.73138	.	0.113529	0.64402	D	0.000016	T	0.44664	0.1304	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43734	-0.9373	10	0.87932	D	0	.	17.8061	0.88601	0.0:0.0:1.0:0.0	.	232	Q9Y2H0-1	.	H	232	ENSP00000363023:R232H;ENSP00000384954:R232H;ENSP00000363014:R232H;ENSP00000341633:R232H	ENSP00000341633:R232H	R	+	2	0	DLGAP4	34494229	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.469000	0.97679	2.438000	0.82558	0.462000	0.41574	CGC		0.597	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		9	85	0	0	0	0	9	85				
NCOA3	8202	broad.mit.edu	37	20	46254145	46254145	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:46254145G>A	ENST00000371998.3	+	5	468	c.277G>A	c.(277-279)Gat>Aat	p.D93N	NCOA3_ENST00000371997.3_Missense_Mutation_p.D93N|NCOA3_ENST00000341724.6_Missense_Mutation_p.D93N|NCOA3_ENST00000372004.3_Missense_Mutation_p.D93N			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	93					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTCCAATGATGATGATGTTCA	0.368																																						uc002xtk.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(277-279)GAT>AAT		nuclear receptor coactivator 3 isoform a							112.0	102.0	105.0					20																	46254145		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46254145G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.277G>A	20.37:g.46254145G>A	ENSP00000361066:p.Asp93Asn					NCOA3_uc010ght.1_Missense_Mutation_p.D93N|NCOA3_uc002xtl.2_Missense_Mutation_p.D93N|NCOA3_uc002xtm.2_Missense_Mutation_p.D93N|NCOA3_uc002xtn.2_Missense_Mutation_p.D93N|NCOA3_uc010zyc.1_5'Flank	p.D93N	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			5	482	+			93					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.277G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561709	0.96527	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02446	4.3;4.49;4.49;4.29	5.62	5.62	0.85841	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.978;0.978;0.987;0.978	D;P;P;D;P	0.91635	0.999;0.854;0.854;0.914;0.823	T	0.00057	-1.2173	10	0.54805	T	0.06	-24.0024	19.6585	0.95853	0.0:0.0:1.0:0.0	.	93;97;93;93;93	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	N	93	ENSP00000342123:D93N;ENSP00000361073:D93N;ENSP00000361066:D93N;ENSP00000361065:D93N	ENSP00000345671:D93N	D	+	1	0	NCOA3	45687552	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.657000	0.90304	0.467000	0.42956	GAT		0.368	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		18	45	0	0	0	0	18	45				
PHACTR3	116154	broad.mit.edu	37	20	58330263	58330263	+	Missense_Mutation	SNP	G	G	A	rs201601907		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:58330263G>A	ENST00000371015.1	+	4	852	c.385G>A	c.(385-387)Gat>Aat	p.D129N	PHACTR3_ENST00000359926.3_Missense_Mutation_p.D126N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D88N|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D88N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D88N	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	129						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTGCAACCCCGATGGAGGACC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19659	0.0		0.0	False		,,,				2504	0.0					uc002yau.2		NA																	0				ovary(2)|pancreas(1)	3						c.(385-387)GAT>AAT		phosphatase and actin regulator 3 isoform 1							60.0	56.0	58.0					20																	58330263		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58330263G>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.385G>A	20.37:g.58330263G>A	ENSP00000360054:p.Asp129Asn					PHACTR3_uc002yat.2_Missense_Mutation_p.D126N|PHACTR3_uc010zzw.1_Missense_Mutation_p.D88N|PHACTR3_uc002yav.2_Missense_Mutation_p.D88N|PHACTR3_uc002yaw.2_Missense_Mutation_p.D88N|PHACTR3_uc002yax.2_Missense_Mutation_p.D88N	p.D129N	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		4	852	+	all_lung(29;0.00344)		129					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.385G>A	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191763	0.21954	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.32515	1.96;1.96;1.45;1.98;1.98;1.98;1.45	3.65	1.59	0.23543	.	0.688212	0.14145	N	0.338432	T	0.17959	0.0431	L	0.43923	1.385	0.09310	N	1	P;B;B	0.34546	0.456;0.002;0.004	B;B;B	0.30646	0.118;0.001;0.001	T	0.19095	-1.0316	10	0.09084	T	0.74	0.0691	4.6174	0.12433	0.1227:0.0:0.6603:0.2169	.	88;129;126	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	N	126;129;88;88;88;88;88	ENSP00000353002:D126N;ENSP00000360054:D129N;ENSP00000379001:D88N;ENSP00000442483:D88N;ENSP00000347866:D88N;ENSP00000378998:D88N;ENSP00000354555:D88N	ENSP00000347866:D88N	D	+	1	0	PHACTR3	57763658	0.006000	0.16342	0.000000	0.03702	0.031000	0.12232	1.164000	0.31810	0.283000	0.22279	0.591000	0.81541	GAT		0.567	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		9	30	0	0	0	0	9	30				
TPTE	7179	broad.mit.edu	37	21	10920139	10920139	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:10920139C>T	ENST00000361285.4	-	19	1444	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R334K|TPTE_ENST00000298232.7_Missense_Mutation_p.R354K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	372	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)		ATCTGTTCGCCTTTCTCCAAA	0.378																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1114-1116)AGG>AAG		transmembrane phosphatase with tensin homology							101.0	94.0	96.0					21																	10920139		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920139C>T	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.1115G>A	21.37:g.10920139C>T	ENSP00000355208:p.Arg372Lys					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R354K|TPTE_uc002yir.1_Missense_Mutation_p.R334K|TPTE_uc010gkv.1_Missense_Mutation_p.R234K	p.R372K	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)	19	1483	-			372			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1115G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	5.035	0.192125	0.09599	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98474	-4.95;-4.95;-4.95	2.32	1.41	0.22369	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.052067	0.85682	D	0.000000	D	0.95284	0.8470	L	0.45352	1.415	0.18873	N	0.999981	P;P;B	0.40302	0.537;0.712;0.081	B;B;B	0.42738	0.321;0.396;0.089	D	0.89840	0.4002	10	0.28530	T	0.3	-4.8359	4.892	0.13731	0.0:0.8108:0.0:0.1892	.	334;354;372	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	354;372;334	ENSP00000298232:R354K;ENSP00000355208:R372K;ENSP00000344441:R334K	ENSP00000298232:R354K	R	-	2	0	TPTE	9942010	0.782000	0.28689	0.429000	0.26710	0.140000	0.21249	1.952000	0.40343	0.317000	0.23160	0.184000	0.17185	AGG		0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			15	131	0	0	0	0	15	131				
TPTE	7179	broad.mit.edu	37	21	10944746	10944746	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:10944746G>T	ENST00000361285.4	-	11	817	c.488C>A	c.(487-489)aCt>aAt	p.T163N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.T125N|TPTE_ENST00000298232.7_Missense_Mutation_p.T145N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	163					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)		AATAATGGCAGTATCTAAAAT	0.318																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(487-489)ACT>AAT		transmembrane phosphatase with tensin homology							136.0	146.0	143.0					21																	10944746		2203	4296	6499	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944746G>T	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.488C>A	21.37:g.10944746G>T	ENSP00000355208:p.Thr163Asn					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T145N|TPTE_uc002yir.1_Missense_Mutation_p.T125N|TPTE_uc010gkv.1_Missense_Mutation_p.T25N	p.T163N	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)	11	856	-			163					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.488C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.52	1.961559	0.34659	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98474	-4.95;-4.95;-4.95	2.31	2.31	0.28768	Ion transport (1);	0.062524	0.64402	U	0.000006	D	0.97377	0.9142	M	0.67397	2.05	0.23396	N	0.997761	P;P;D	0.61080	0.82;0.933;0.989	B;B;P	0.52066	0.331;0.422;0.689	D	0.93036	0.6453	10	0.66056	D	0.02	-11.4923	8.2508	0.31717	0.0:0.0:1.0:0.0	.	125;145;163	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	145;163;125	ENSP00000298232:T145N;ENSP00000355208:T163N;ENSP00000344441:T125N	ENSP00000298232:T145N	T	-	2	0	TPTE	9966617	0.995000	0.38212	0.576000	0.28549	0.303000	0.27691	2.844000	0.48246	1.594000	0.50039	0.194000	0.17425	ACT		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			10	189	1	0	2.18e-05	2.59e-05	10	189				
NCAM2	4685	broad.mit.edu	37	21	22906914	22906914	+	Missense_Mutation	SNP	C	C	A	rs372189468		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:22906914C>A	ENST00000400546.1	+	17	2588	c.2339C>A	c.(2338-2340)aCt>aAt	p.T780N	NCAM2_ENST00000284894.7_Missense_Mutation_p.T638N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	780					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAAGAGTTACTAATCACGAA	0.398																																						uc002yld.1		NA																	0				ovary(4)	4						c.(2338-2340)ACT>AAT		neural cell adhesion molecule 2 precursor							119.0	112.0	115.0					21																	22906914		1896	4116	6012	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22906914C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2339C>A	21.37:g.22906914C>A	ENSP00000383392:p.Thr780Asn					NCAM2_uc011acb.1_Missense_Mutation_p.T638N	p.T780N	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	17	2588	+		Lung NSC(9;0.195)	780			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2339C>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575693	0.65878	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.43688	0.94;0.94	5.49	5.49	0.81192	.	0.460473	0.23916	N	0.043285	T	0.35098	0.0920	N	0.22421	0.69	0.80722	D	1	P;B	0.44627	0.839;0.281	B;B	0.41236	0.351;0.076	T	0.27938	-1.0059	10	0.66056	D	0.02	-23.779	17.9371	0.89015	0.0:1.0:0.0:0.0	.	638;780	B7Z5K2;O15394	.;NCAM2_HUMAN	N	780;638	ENSP00000383392:T780N;ENSP00000284894:T638N	ENSP00000284894:T638N	T	+	2	0	NCAM2	21828785	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.496000	0.66918	2.584000	0.87258	0.460000	0.39030	ACT		0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		8	32	1	0	0.00448238	0.00492681	8	32				
C2CD2	25966	broad.mit.edu	37	21	43332500	43332500	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:43332500C>A	ENST00000380486.3	-	7	1135	c.894G>T	c.(892-894)agG>agT	p.R298S	C2CD2_ENST00000329623.7_Missense_Mutation_p.R143S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	298	C2.					cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGCTGGAGAACCTCTGAACAG	0.488																																						uc002yzw.2		NA																	0				ovary(1)	1						c.(892-894)AGG>AGT		C2 calcium-dependent domain containing 2 isoform							102.0	71.0	81.0					21																	43332500		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43332500C>A	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.894G>T	21.37:g.43332500C>A	ENSP00000369853:p.Arg298Ser					C2CD2_uc002yzu.2_Missense_Mutation_p.R130S|C2CD2_uc002yzv.2_Missense_Mutation_p.R143S|C2CD2_uc002yzx.1_Missense_Mutation_p.R143S	p.R298S	NM_015500	NP_056315	Q9Y426	CU025_HUMAN			7	1136	-			298			C2.		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.894G>T	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181239	0.21787	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.70045	-0.45;-0.45	5.29	1.14	0.20703	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.422139	0.27522	N	0.018984	T	0.52256	0.1723	L	0.44542	1.39	0.23445	N	0.997665	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.0	T	0.43893	-0.9363	10	0.51188	T	0.08	-13.9506	6.2262	0.20710	0.0:0.3914:0.3904:0.2183	.	143;298	Q6P6D1;Q9Y426	.;CU025_HUMAN	S	143;298	ENSP00000329302:R143S;ENSP00000369853:R298S	ENSP00000329302:R143S	R	-	3	2	C2CD2	42205569	0.333000	0.24731	0.920000	0.36463	0.097000	0.18754	-0.209000	0.09358	0.002000	0.14630	0.655000	0.94253	AGG		0.488	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		4	18	1	0	0.00909568	0.0096954	4	18				
MYO18B	84700	broad.mit.edu	37	22	26194047	26194047	+	Missense_Mutation	SNP	C	C	T	rs531972047	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr22:26194047C>T	ENST00000407587.2	+	12	2673	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V	MYO18B_ENST00000536101.1_Missense_Mutation_p.A835V|MYO18B_ENST00000335473.7_Missense_Mutation_p.A835V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	835	Myosin motor.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:12209013}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A835E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCTGGGTGCGGCGGGGGCC	0.662													c|||	62	0.0123802	0.0	0.0	5008	,	,		15861	0.0		0.0	False		,,,				2504	0.0634					uc003abz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(2503-2505)GCG>GTG		myosin XVIIIB							23.0	26.0	25.0					22																	26194047		1944	4123	6067	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26194047C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2504C>T	22.37:g.26194047C>T	ENSP00000386096:p.Ala835Val					MYO18B_uc003aca.1_Missense_Mutation_p.A716V|MYO18B_uc010guy.1_Missense_Mutation_p.A716V|MYO18B_uc010guz.1_Missense_Mutation_p.A716V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.A348V	p.A835V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			12	2754	+			835		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).	Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2504C>T		.	.	.	.	.	.	.	.	.	.	c	11.49	1.655642	0.29425	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.25;-2.25;-2.25	5.43	2.25	0.28309	Myosin head, motor domain (2);	0.124292	0.53938	N	0.000057	D	0.86201	0.5876	M	0.72894	2.215	0.33183	D	0.549879	B;D;P;P	0.53745	0.173;0.962;0.58;0.952	B;P;B;B	0.46389	0.051;0.515;0.126;0.381	D	0.86906	0.2057	10	0.51188	T	0.08	.	9.1665	0.37054	0.0:0.7606:0.0:0.2394	.	348;835;835;835	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	835	ENSP00000441229:A835V;ENSP00000334563:A835V;ENSP00000386096:A835V	ENSP00000334563:A835V	A	+	2	0	MYO18B	24524047	0.989000	0.36119	0.002000	0.10522	0.059000	0.15707	2.854000	0.48325	0.296000	0.22592	-0.119000	0.15052	GCG		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	17	0	0	0	0	9	17				
RFTN1	23180	broad.mit.edu	37	3	16475413	16475413	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:16475413C>T	ENST00000334133.4	-	3	549	c.277G>A	c.(277-279)Gag>Aag	p.E93K	RFTN1_ENST00000432519.1_Missense_Mutation_p.E57K	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	93					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGCGTCTTCTCCCGCTCATGG	0.632																																						uc003cay.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(277-279)GAG>AAG		raft-linking protein							99.0	107.0	104.0					3																	16475413		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16475413C>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.277G>A	3.37:g.16475413C>T	ENSP00000334153:p.Glu93Lys					RFTN1_uc010hes.2_Missense_Mutation_p.E57K	p.E93K	NM_015150	NP_055965	Q14699	RFTN1_HUMAN			3	559	-			93					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.277G>A	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300407	0.81136	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.21	5.21	0.72293	.	0.529823	0.21041	N	0.081177	T	0.41994	0.1183	L	0.37630	1.12	0.54753	D	0.99998	P;P	0.51537	0.946;0.48	P;B	0.59546	0.859;0.267	T	0.05954	-1.0854	10	0.17369	T	0.5	-17.6513	18.3868	0.90469	0.0:1.0:0.0:0.0	.	57;93	G3XAJ6;Q14699	.;RFTN1_HUMAN	K	57;93;93;93;93;93	ENSP00000403926:E57K;ENSP00000334153:E93K;ENSP00000403997:E93K;ENSP00000409427:E93K;ENSP00000388718:E93K;ENSP00000393216:E93K	ENSP00000334153:E93K	E	-	1	0	RFTN1	16450417	0.983000	0.35010	0.970000	0.41538	0.498000	0.33706	2.580000	0.46068	2.433000	0.82419	0.561000	0.74099	GAG		0.632	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		23	86	0	0	0	0	23	86				
ARPP21	10777	broad.mit.edu	37	3	35730853	35730853	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:35730853T>A	ENST00000187397.4	+	7	917	c.461T>A	c.(460-462)aTt>aAt	p.I154N	ARPP21_ENST00000417925.1_Missense_Mutation_p.I154N|ARPP21_ENST00000458225.1_Missense_Mutation_p.I154N|ARPP21_ENST00000444190.1_Missense_Mutation_p.I154N|ARPP21_ENST00000337271.5_Missense_Mutation_p.I154N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	154					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAGTTTCTGATTAACACATTA	0.343																																						uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(460-462)ATT>AAT		cyclic AMP-regulated phosphoprotein, 21 kD							75.0	75.0	75.0					3																	35730853		2203	4299	6502	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35730853T>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.461T>A	3.37:g.35730853T>A	ENSP00000187397:p.Ile154Asn					ARPP21_uc003cga.2_Missense_Mutation_p.I154N|ARPP21_uc011axy.1_Missense_Mutation_p.I154N|ARPP21_uc003cgf.2_5'Flank	p.I154N	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			7	725	+			154					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.461T>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895833	0.91962	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.86	5.86	0.93980	Single-stranded nucleic acid binding R3H (1);	0.189010	0.49305	D	0.000150	T	0.49932	0.1586	L	0.43152	1.355	0.58432	D	0.999994	D;P;D	0.57571	0.98;0.949;0.98	P;P;P	0.52793	0.709;0.707;0.709	T	0.51236	-0.8731	10	0.72032	D	0.01	-10.6373	16.5602	0.84551	0.0:0.0:0.0:1.0	.	154;154;154	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	N	154	ENSP00000414351:I154N;ENSP00000337792:I154N;ENSP00000405276:I154N;ENSP00000187397:I154N;ENSP00000412326:I154N	ENSP00000187397:I154N	I	+	2	0	ARPP21	35705857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATT		0.343	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		13	53	0	0	0	0	13	53				
KIF9	64147	broad.mit.edu	37	3	47277951	47277951	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:47277951G>A	ENST00000265529.3	-	19	2763	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	KIF9_ENST00000335044.2_Missense_Mutation_p.R695C|KIF9_ENST00000444589.2_Missense_Mutation_p.R630C|KIF9_ENST00000452770.2_Missense_Mutation_p.R695C|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Missense_Mutation_p.R537C			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	695					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGCGGTGGCGACACTGATCC	0.592																																					Colon(44;962 1147 15977 24541)	uc010hjp.2		NA																	0				skin(1)	1						c.(2083-2085)CGC>TGC		kinesin family member 9 isoform 2							139.0	107.0	118.0					3																	47277951		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47277951G>A	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.2083C>T	3.37:g.47277951G>A	ENSP00000265529:p.Arg695Cys					KIF9_uc003cqx.2_Missense_Mutation_p.R695C|KIF9_uc003cqy.2_Missense_Mutation_p.R630C|KIF9_uc011bat.1_RNA|uc003cqw.1_Intron	p.R695C	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	19	2687	-		Acute lymphoblastic leukemia(5;0.164)	695					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.2083C>T	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522112	0.85600	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.75481	0.3855	M	0.63843	1.955	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77945	-0.2397	10	0.87932	D	0	.	12.4225	0.55527	0.0809:0.0:0.9191:0.0	.	630;695	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	C	695;695;630;695;537	ENSP00000333942:R695C;ENSP00000265529:R695C;ENSP00000414987:R630C;ENSP00000391100:R695C;ENSP00000292334:R537C	ENSP00000265529:R695C	R	-	1	0	KIF9	47252955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.597000	0.61062	1.466000	0.48025	0.655000	0.94253	CGC		0.592	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			11	31	0	0	0	0	11	31				
EPHA6	285220	broad.mit.edu	37	3	96533606	96533606	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:96533606G>T	ENST00000389672.5	+	1	177	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	EPHA6_ENST00000542517.1_5'Flank|EPHA6_ENST00000470610.2_Missense_Mutation_p.G47W	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGGGCGCCCCGGGACACCCCC	0.711																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(139-141)GGG>TGG		EPH receptor A6 isoform a							9.0	11.0	11.0					3																	96533606		1845	4063	5908	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96533606G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.139G>T	3.37:g.96533606G>T	ENSP00000374323:p.Gly47Trp					EPHA6_uc003drp.1_Missense_Mutation_p.G47W	p.G47W	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			1	182	+			Error:Variant_position_missing_in_Q9UF33_after_alignment					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.139G>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441312	0.63067	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	T;T	0.76060	4.9;-0.99	5.15	2.18	0.27775	.	.	.	.	.	T	0.54351	0.1853	N	0.08118	0	0.80722	D	1	P;B	0.49783	0.928;0.0	B;B	0.43508	0.422;0.0	T	0.56481	-0.7972	9	0.87932	D	0	.	8.3485	0.32288	0.0:0.2308:0.634:0.1351	.	47;47	B3KS12;E7EU71	.;.	W	47	ENSP00000420598:G47W;ENSP00000374323:G47W	ENSP00000374323:G47W	G	+	1	0	EPHA6	98016296	0.983000	0.35010	0.995000	0.50966	0.986000	0.74619	0.332000	0.19751	0.543000	0.28864	0.585000	0.79938	GGG		0.711	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		5	26	1	0	1.24e-05	1.48e-05	5	26				
COL6A6	131873	broad.mit.edu	37	3	130283942	130283942	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:130283942G>T	ENST00000358511.6	+	3	797	c.766G>T	c.(766-768)Gta>Tta	p.V256L	COL6A6_ENST00000453409.2_Missense_Mutation_p.V256L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	256	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAAGAAAGTGTATCTGCCCT	0.408																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(766-768)GTA>TTA		collagen type VI alpha 6 precursor							143.0	140.0	141.0					3																	130283942		1891	4121	6012	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130283942G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.766G>T	3.37:g.130283942G>T	ENSP00000351310:p.Val256Leu						p.V256L	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			3	797	+			256			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.766G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070251	0.36566	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84370	-1.84;-1.84	5.09	-1.35	0.09114	von Willebrand factor, type A (3);	0.666605	0.13754	N	0.365096	T	0.73674	0.3617	L	0.33485	1.01	0.09310	N	1	B	0.26120	0.142	B	0.26693	0.072	T	0.60131	-0.7323	10	0.38643	T	0.18	.	6.9656	0.24621	0.4097:0.1123:0.478:0.0	.	256	A6NMZ7	CO6A6_HUMAN	L	256	ENSP00000351310:V256L;ENSP00000399236:V256L	ENSP00000351310:V256L	V	+	1	0	COL6A6	131766632	0.025000	0.19082	0.013000	0.15412	0.980000	0.70556	0.201000	0.17276	-0.242000	0.09667	0.561000	0.74099	GTA		0.408	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		32	181	1	0	1.08e-15	1.41e-15	32	181				
COL6A6	131873	broad.mit.edu	37	3	130287412	130287412	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:130287412G>C	ENST00000358511.6	+	5	2396	c.2365G>C	c.(2365-2367)Gat>Cat	p.D789H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D789H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	789	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCGCATTGAAGATGATCTTGT	0.463																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2365-2367)GAT>CAT		collagen type VI alpha 6 precursor							113.0	112.0	112.0					3																	130287412		1883	4107	5990	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287412G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2365G>C	3.37:g.130287412G>C	ENSP00000351310:p.Asp789His						p.D789H	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			5	2396	+			789			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2365G>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854667	0.51376	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79940	-1.32;-1.32	5.47	4.5	0.54988	von Willebrand factor, type A (3);	0.311963	0.27856	N	0.017576	D	0.83179	0.5198	M	0.67700	2.07	0.29354	N	0.865118	P	0.39022	0.655	P	0.49799	0.622	T	0.79448	-0.1799	10	0.54805	T	0.06	.	8.86	0.35251	0.2493:0.0:0.7507:0.0	.	789	A6NMZ7	CO6A6_HUMAN	H	789	ENSP00000351310:D789H;ENSP00000399236:D789H	ENSP00000351310:D789H	D	+	1	0	COL6A6	131770102	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.359000	0.44142	1.142000	0.42291	0.561000	0.74099	GAT		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		8	85	0	0	0	0	8	85				
TOPBP1	11073	broad.mit.edu	37	3	133372361	133372361	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:133372361C>T	ENST00000260810.5	-	7	881	c.750G>A	c.(748-750)aaG>aaA	p.K250K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	250	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CACACTCATACTTCTGACCTG	0.348								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NA																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(748-750)AAG>AAA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							91.0	82.0	85.0					3																	133372361		1898	4145	6043	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133372361C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.750G>A	3.37:g.133372361C>T							p.K250K	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			7	882	-			250			BRCT 2.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.750G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645430	0.14451	.	.	ENSG00000163781	ENST00000508524	.	.	.	5.78	3.26	0.37387	.	.	.	.	.	T	0.59252	0.2180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52808	-0.8526	4	.	.	.	.	9.6841	0.40087	0.0:0.2055:0.0:0.7945	.	.	.	.	N	95	.	.	S	-	2	0	TOPBP1	134855051	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.174000	0.31932	0.446000	0.26666	-0.440000	0.05779	AGT		0.348	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		7	27	0	0	0	0	7	27				
TF	7018	broad.mit.edu	37	3	133495987	133495987	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:133495987G>A	ENST00000402696.3	+	16	2452	c.1967G>A	c.(1966-1968)tGt>tAt	p.C656Y	TF_ENST00000264998.3_Missense_Mutation_p.C529Y	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	656	Transferrin-like 2. {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)	GACACAGTATGTTTGGCCAAA	0.433																																						uc003epu.1		NA																	0				ovary(1)|skin(1)	2						c.(1966-1968)TGT>TAT		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						100.0	89.0	93.0					3																	133495987		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.chr3:133495987G>A		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.1967G>A	3.37:g.133495987G>A	ENSP00000385834:p.Cys656Tyr					TF_uc011blt.1_Missense_Mutation_p.C529Y|TF_uc003epw.1_Missense_Mutation_p.C95Y|TF_uc003epv.1_Missense_Mutation_p.C656Y	p.C656Y	NM_001063	NP_001054	P02787	TRFE_HUMAN			21	3695	+			656			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1967G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985600	0.53934	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.07327	3.2;3.2	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.23013	-1.0200	10	0.87932	D	0	-17.5772	16.0275	0.80553	0.0:0.0:1.0:0.0	.	382;656	B4DHZ6;P02787	.;TRFE_HUMAN	Y	656;529	ENSP00000385834:C656Y;ENSP00000264998:C529Y	ENSP00000264998:C529Y	C	+	2	0	TF	134978677	1.000000	0.71417	0.906000	0.35671	0.351000	0.29236	4.032000	0.57274	2.779000	0.95612	0.491000	0.48974	TGT		0.433	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		5	75	0	0	0	0	5	75				
IL20RB	53833	broad.mit.edu	37	3	136714353	136714353	+	Silent	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:136714353G>T	ENST00000329582.4	+	6	1029	c.780G>T	c.(778-780)ctG>ctT	p.L260L	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	260					homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGGCCGGCTGCTCCAGTACT	0.522																																						uc003eri.1		NA																	0				ovary(1)	1						c.(778-780)CTG>CTT		interleukin 20 receptor beta precursor							278.0	275.0	276.0					3																	136714353		2203	4300	6503	SO:0001819	synonymous_variant	53833					integral to membrane	receptor activity	g.chr3:136714353G>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.780G>T	3.37:g.136714353G>T						IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_Silent_p.L118L	p.L260L	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN			6	1029	+			260			Cytoplasmic (Potential).		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Silent	SNP	ENST00000329582.4	37	c.780G>T	CCDS3093.1																																																																																				0.522	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		11	472	1	0	3.86e-05	4.53e-05	11	472				
ZIC4	84107	broad.mit.edu	37	3	147109007	147109007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:147109007C>T	ENST00000383075.3	-	4	1227	c.715G>A	c.(715-717)Gag>Aag	p.E239K	ZIC4_ENST00000425731.3_Missense_Mutation_p.E277K|ZIC4_ENST00000525172.2_Missense_Mutation_p.E289K|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.E239K|ZIC4_ENST00000473123.1_Missense_Mutation_p.E239K|ZIC4_ENST00000491672.1_Missense_Mutation_p.E33K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	239						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						TCGCAGCCCTCGAACTCGCAT	0.617																																						uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(715-717)GAG>AAG		zinc finger protein of the cerebellum 4							28.0	30.0	29.0					3																	147109007		2202	4299	6501	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147109007C>T	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.715G>A	3.37:g.147109007C>T	ENSP00000372553:p.Glu239Lys					ZIC4_uc003ewc.1_Missense_Mutation_p.E169K|ZIC4_uc011bno.1_Missense_Mutation_p.E289K	p.E239K	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	988	-			239			C2H2-type 4.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.715G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002302	0.74932	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.35605	2.46;2.46;2.46;2.46;2.46;1.3	4.94	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.142192	0.31134	N	0.008185	T	0.33614	0.0869	N	0.25789	0.76	0.37184	D	0.903613	B;P	0.36010	0.059;0.532	B;B	0.42087	0.086;0.375	T	0.49934	-0.8886	9	0.56958	D	0.05	.	15.3122	0.74042	0.0:0.8595:0.1405:0.0	.	289;239	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	K	239;277;289;239;239;33	ENSP00000372553:E239K;ENSP00000397695:E277K;ENSP00000435509:E289K;ENSP00000417855:E239K;ENSP00000420775:E239K;ENSP00000418277:E33K	ENSP00000372553:E239K	E	-	1	0	ZIC4	148591697	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.817000	0.62650	1.050000	0.40346	0.462000	0.41574	GAG		0.617	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			6	38	0	0	0	0	6	38				
ZIC4	84107	broad.mit.edu	37	3	147113980	147113980	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:147113980A>T	ENST00000383075.3	-	3	859	c.347T>A	c.(346-348)tTc>tAc	p.F116Y	ZIC4_ENST00000425731.3_Missense_Mutation_p.F154Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.F166Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.F116Y|ZIC4_ENST00000473123.1_Missense_Mutation_p.F116Y|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	116						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						GTAGCGGAAGAAAGCGCCAGG	0.677																																						uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(346-348)TTC>TAC		zinc finger protein of the cerebellum 4							31.0	37.0	35.0					3																	147113980		2199	4298	6497	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113980A>T	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.347T>A	3.37:g.147113980A>T	ENSP00000372553:p.Phe116Tyr					ZIC4_uc003ewc.1_Missense_Mutation_p.F46Y|ZIC4_uc011bno.1_Missense_Mutation_p.F166Y	p.F116Y	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	620	-			116					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.347T>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.998748	0.93227	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.91	4.91	0.64330	.	0.000000	0.48286	D	0.000187	T	0.66228	0.2768	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.75020	0.677;0.985	T	0.71013	-0.4715	10	0.52906	T	0.07	.	14.5444	0.68017	1.0:0.0:0.0:0.0	.	166;116	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	Y	116;154;166;116;116;116	ENSP00000372553:F116Y;ENSP00000397695:F154Y;ENSP00000435509:F166Y;ENSP00000417855:F116Y;ENSP00000420775:F116Y;ENSP00000420627:F116Y	ENSP00000372553:F116Y	F	-	2	0	ZIC4	148596670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.946000	0.92992	1.836000	0.53414	0.418000	0.28097	TTC		0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			8	72	0	0	0	0	8	72				
GPR149	344758	broad.mit.edu	37	3	154138953	154138953	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:154138953T>C	ENST00000389740.2	-	3	1597	c.1498A>G	c.(1498-1500)Att>Gtt	p.I500V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	500					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCATAGTTAATATCACCTCCT	0.398																																						uc003faa.2		NA																	0				ovary(6)	6						c.(1498-1500)ATT>GTT		G protein-coupled receptor 149							224.0	208.0	213.0					3																	154138953		1865	4099	5964	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154138953T>C	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1498A>G	3.37:g.154138953T>C	ENSP00000374390:p.Ile500Val						p.I500V	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	1598	-			500			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.1498A>G	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.566791	0.00895	.	.	ENSG00000174948	ENST00000389740	.	.	.	4.88	1.1	0.20463	.	1.065910	0.07117	N	0.843190	T	0.42086	0.1187	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35847	-0.9772	9	0.48119	T	0.1	-0.4086	8.1145	0.30935	0.0:0.3284:0.0:0.6716	.	500	Q86SP6	GP149_HUMAN	V	500	.	ENSP00000374390:I500V	I	-	1	0	GPR149	155621647	0.000000	0.05858	0.011000	0.14972	0.240000	0.25518	0.184000	0.16939	0.018000	0.15052	0.372000	0.22366	ATT		0.398	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		35	201	0	0	0	0	35	201				
KCNIP4	80333	broad.mit.edu	37	4	20852192	20852192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:20852192G>A	ENST00000382152.2	-	3	429	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	KCNIP4_ENST00000509207.1_Nonsense_Mutation_p.Q26*|KCNIP4_ENST00000359001.5_Nonsense_Mutation_p.Q26*|KCNIP4_ENST00000382148.3_Nonsense_Mutation_p.Q63*|KCNIP4_ENST00000447367.2_Nonsense_Mutation_p.Q54*|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Nonsense_Mutation_p.Q67*	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	88	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TAAAGGATCTGAAGCTCTTTC	0.458																																						uc003gqe.2		NA																	0					0						c.(211-213)CAG>TAG		Kv channel interacting protein 4 isoform 3							87.0	92.0	90.0					4																	20852192		2203	4300	6503	SO:0001587	stop_gained	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20852192G>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.262C>T	4.37:g.20852192G>A	ENSP00000371587:p.Gln88*					KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Q67*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Q26*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Q63*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Q26*|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Q68*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Q51*	p.Q71*	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN			2	295	-		Breast(46;0.134)	88			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Nonsense_Mutation	SNP	ENST00000382152.2	37	c.211C>T	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	G	37	6.270632	0.97431	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	.	.	.	5.42	5.42	0.78866	.	0.222920	0.47455	D	0.000231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.2271	0.93821	0.0:0.0:1.0:0.0	.	.	.	.	X	63;54;67;26;88;26;26	.	ENSP00000351892:Q26X	Q	-	1	0	KCNIP4	20461290	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.869000	0.99810	2.521000	0.84997	0.655000	0.94253	CAG		0.458	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		16	79	0	0	0	0	16	79				
GABRG1	2565	broad.mit.edu	37	4	46043265	46043265	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:46043265G>T	ENST00000295452.4	-	9	1305	c.1138C>A	c.(1138-1140)Cct>Act	p.P380T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	380					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)	TGGAGACCAGGAGTCATCTGA	0.393																																						uc003gxb.2		NA																	0				ovary(2)	2						c.(1138-1140)CCT>ACT		gamma-aminobutyric acid A receptor, gamma 1							48.0	51.0	50.0					4																	46043265		2203	4298	6501	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.chr4:46043265G>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.1138C>A	4.37:g.46043265G>T	ENSP00000295452:p.Pro380Thr						p.P380T	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1290	-			380			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1138C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	8.826	0.938777	0.18206	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83506	-1.73	5.22	-2.92	0.05615	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.115560	0.06533	N	0.741741	T	0.67297	0.2878	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.47573	-0.9107	10	0.16896	T	0.51	.	0.5418	0.00647	0.3692:0.1611:0.2578:0.2119	.	380	Q8N1C3	GBRG1_HUMAN	T	380	ENSP00000295452:P380T	ENSP00000295452:P380T	P	-	1	0	GABRG1	45738022	0.171000	0.23029	0.009000	0.14445	0.003000	0.03518	0.335000	0.19806	-0.422000	0.07405	-0.237000	0.12165	CCT		0.393	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		5	24	1	0	8.13e-05	9.36e-05	5	24				
CHIC2	26511	broad.mit.edu	37	4	54915177	54915177	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:54915177C>A	ENST00000263921.3	-	3	664	c.275G>T	c.(274-276)tGt>tTt	p.C92F	CHIC2_ENST00000512964.1_Missense_Mutation_p.C92F|FIP1L1_ENST00000507166.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	92						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCAGCAGCAACAAAGGCAGCC	0.373			T	ETV6	AML																																	uc003haj.1		NA		Dom	yes		4	4q11-q12	26511	T	cysteine-rich hydrophobic domain 2			L	ETV6		AML		0				central_nervous_system(1)	1						c.(274-276)TGT>TTT		cysteine-rich hydrophobic domain 2							32.0	27.0	29.0					4																	54915177		2203	4300	6503	SO:0001583	missense	26511					plasma membrane	protein binding	g.chr4:54915177C>A	AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.275G>T	4.37:g.54915177C>A	ENSP00000263921:p.Cys92Phe					PDGFRA_uc003haa.2_Intron	p.C92F	NM_012110	NP_036242	Q9UKJ5	CHIC2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		3	596	-	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		92	CGCLCCCC->SGSLSSSS: Loss of palmitoylation. Abolishes membrane association.		CHIC motif (Cys-rich).		B2R639	Missense_Mutation	SNP	ENST00000263921.3	37	c.275G>T	CCDS3493.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883537	0.72410	.	.	ENSG00000109220	ENST00000263921;ENST00000512964	.	.	.	5.81	5.81	0.92471	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67158	-0.5741	9	0.25106	T	0.35	-33.8201	20.0695	0.97716	0.0:1.0:0.0:0.0	.	92	Q9UKJ5	CHIC2_HUMAN	F	92	.	ENSP00000263921:C92F	C	-	2	0	CHIC2	54609934	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.380000	0.79704	2.761000	0.94854	0.585000	0.79938	TGT		0.373	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219937.2			5	11	1	0	0.000602214	0.000675316	5	11				
ZGRF1	55345	broad.mit.edu	37	4	113468532	113468532	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:113468532T>G	ENST00000505019.1	-	24	5632	c.5507A>C	c.(5506-5508)gAt>gCt	p.D1836A	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1836						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D1836V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGTTTGGGATCCCCAACAAG	0.358																																						uc003iau.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(5506-5508)GAT>GCT		prematurely terminated mRNA decay factor-like							87.0	78.0	81.0					4																	113468532		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113468532T>G																												ENST00000505019.1:c.5507A>C	4.37:g.113468532T>G	ENSP00000424737:p.Asp1836Ala					C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.D294A	p.D1836A	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	24	5718	-		Ovarian(17;0.156)	658					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5507A>C		.	.	.	.	.	.	.	.	.	.	T	23.2	4.385169	0.82792	.	.	ENSG00000138658	ENST00000505019	D	0.98914	-5.23	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.97987	1.0352	10	0.87932	D	0	-37.3326	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1836;294	G5EA02;B3KQX2	.;.	A	1836	ENSP00000424737:D1836A	ENSP00000424737:D1836A	D	-	2	0	C4orf21	113687981	1.000000	0.71417	0.979000	0.43373	0.979000	0.70002	5.203000	0.65174	2.263000	0.75096	0.533000	0.62120	GAT		0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	19	0	0	0	0	3	19				
PRDM5	11107	broad.mit.edu	37	4	121742406	121742406	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:121742406T>A	ENST00000264808.3	-	4	635	c.395A>T	c.(394-396)gAg>gTg	p.E132V	PRDM5_ENST00000428209.2_Missense_Mutation_p.E132V|PRDM5_ENST00000515109.1_Missense_Mutation_p.E132V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	132					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGTTCTTCCTCCTCAGCCTC	0.403																																						uc003idn.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(394-396)GAG>GTG		PR domain containing 5							203.0	192.0	196.0					4																	121742406		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121742406T>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.395A>T	4.37:g.121742406T>A	ENSP00000264808:p.Glu132Val					PRDM5_uc003ido.2_Missense_Mutation_p.E132V|PRDM5_uc010ine.2_Missense_Mutation_p.E132V|PRDM5_uc010inf.2_Missense_Mutation_p.E132V	p.E132V	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			4	645	-			132					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.395A>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039519	0.55003	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.10477	2.98;2.87;3.03	5.42	5.42	0.78866	.	0.158622	0.56097	D	0.000022	T	0.11367	0.0277	L	0.32530	0.975	0.80722	D	1	P;B;P	0.39216	0.664;0.023;0.664	B;B;B	0.39299	0.203;0.018;0.296	T	0.09487	-1.0672	10	0.38643	T	0.18	-27.4329	15.7643	0.78114	0.0:0.0:0.0:1.0	.	132;132;132	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	V	132	ENSP00000264808:E132V;ENSP00000422309:E132V;ENSP00000404832:E132V	ENSP00000264808:E132V	E	-	2	0	PRDM5	121961856	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	7.929000	0.87595	2.171000	0.68590	0.533000	0.62120	GAG		0.403	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			28	94	0	0	0	0	28	94				
FGA	2243	broad.mit.edu	37	4	155505421	155505421	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:155505421C>G	ENST00000302053.3	-	6	2534	c.2456G>C	c.(2455-2457)gGa>gCa	p.G819A		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	819	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAGTAGATTCCATTGAGATT	0.493																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(2455-2457)GGA>GCA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						127.0	125.0	126.0					4																	155505421		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505421C>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2456G>C	4.37:g.155505421C>G	ENSP00000306361:p.Gly819Ala						p.G819A	NM_000508	NP_000499	P02671	FIBA_HUMAN			6	2514	-	all_hematologic(180;0.215)	Renal(120;0.0458)	819			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2456G>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011096	0.75046	.	.	ENSG00000171560	ENST00000302053	D	0.89196	-2.48	5.85	5.85	0.93711	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95535	0.8607	10	0.87932	D	0	.	20.1669	0.98153	0.0:1.0:0.0:0.0	.	819	P02671	FIBA_HUMAN	A	819	ENSP00000306361:G819A	ENSP00000306361:G819A	G	-	2	0	FGA	155724871	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	7.818000	0.86416	2.770000	0.95276	0.650000	0.86243	GGA		0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		26	85	0	0	0	0	26	85				
FSTL5	56884	broad.mit.edu	37	4	162697070	162697070	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:162697070G>T	ENST00000306100.5	-	5	1002	c.566C>A	c.(565-567)gCa>gAa	p.A189E	FSTL5_ENST00000536695.1_Missense_Mutation_p.A188E|FSTL5_ENST00000379164.4_Missense_Mutation_p.A188E|FSTL5_ENST00000427802.2_Missense_Mutation_p.A188E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	189	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					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)		ATTACTGTCTGCATCAAAATA	0.294																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(565-567)GCA>GAA		follistatin-like 5 isoform a							89.0	93.0	92.0					4																	162697070		2203	4294	6497	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697070G>T	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.566C>A	4.37:g.162697070G>T	ENSP00000305334:p.Ala189Glu					FSTL5_uc003iqi.2_Missense_Mutation_p.A188E|FSTL5_uc010iqv.2_Missense_Mutation_p.A188E	p.A189E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	1002	-	all_hematologic(180;0.24)		189			1 (Potential).|EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.566C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358609	0.61403	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.3	5.3	0.74995	EF-hand-like domain (1);	0.214342	0.47455	D	0.000228	T	0.16300	0.0392	L	0.37800	1.135	0.47276	D	0.999379	B;P;P	0.43477	0.361;0.546;0.808	B;B;B	0.36719	0.116;0.117;0.231	T	0.02805	-1.1108	10	0.29301	T	0.29	.	13.9799	0.64299	0.0:0.1516:0.8484:0.0	.	188;188;189	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	E	189;188;188;188	ENSP00000305334:A189E;ENSP00000368462:A188E;ENSP00000389270:A188E;ENSP00000440409:A188E	ENSP00000305334:A189E	A	-	2	0	FSTL5	162916520	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.666000	0.68059	2.625000	0.88918	0.650000	0.86243	GCA		0.294	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		10	50	1	0	5.51e-06	6.64e-06	10	50				
STOX2	56977	broad.mit.edu	37	4	184938290	184938290	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:184938290C>T	ENST00000308497.4	+	4	4069	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	878					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TTGAAAGTAACCGTCGTCAGA	0.498																																						uc003ivz.1		NA																	0					0						c.(2632-2634)AAC>AAT		storkhead box 2							39.0	41.0	40.0					4																	184938290		1868	4098	5966	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184938290C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2634C>T	4.37:g.184938290C>T						uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	p.N878N	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	4	4069	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	878					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.2634C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079325	0.76528	.	.	ENSG00000173320	ENST00000513034	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	T	0.76241	0.3960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74194	-0.3744	4	.	.	.	-38.9934	19.5095	0.95135	0.0:1.0:0.0:0.0	.	.	.	.	S	68	.	.	P	+	1	0	STOX2	185175284	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.148000	0.50647	2.706000	0.92434	0.557000	0.71058	CCG		0.498	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	14	0	0	0	0	4	14				
IRF2	3660	broad.mit.edu	37	4	185310135	185310135	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:185310135C>T	ENST00000393593.3	-	9	1034	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	276					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G276D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGACGCCATGCCGGGCAGCAG	0.552																																						uc003iwf.3		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(1)	1						c.(826-828)GGC>GAC		interferon regulatory factor 2							191.0	166.0	174.0					4																	185310135		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185310135C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.827G>A	4.37:g.185310135C>T	ENSP00000377218:p.Gly276Asp						p.G276D	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	9	1027	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	276					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.827G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056443	0.36277	.	.	ENSG00000168310	ENST00000393593	D	0.98178	-4.77	5.32	5.32	0.75619	.	0.350840	0.35235	N	0.003358	D	0.95487	0.8534	L	0.32530	0.975	0.41310	D	0.987106	P	0.47191	0.891	B	0.37387	0.248	D	0.94793	0.7964	10	0.25751	T	0.34	-14.1921	19.1941	0.93679	0.0:1.0:0.0:0.0	.	276	P14316	IRF2_HUMAN	D	276	ENSP00000377218:G276D	ENSP00000377218:G276D	G	-	2	0	IRF2	185547129	1.000000	0.71417	0.979000	0.43373	0.027000	0.11550	4.461000	0.60115	2.774000	0.95407	0.561000	0.74099	GGC		0.552	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			4	156	0	0	0	0	4	156				
FBXL7	23194	broad.mit.edu	37	5	15928334	15928334	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:15928334A>T	ENST00000504595.1	+	3	944	c.463A>T	c.(463-465)Agg>Tgg	p.R155W	FBXL7_ENST00000329673.7_Missense_Mutation_p.R143W|FBXL7_ENST00000510662.1_Missense_Mutation_p.R108W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	155	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				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						GCGGCTCTGGAGGACTATCCG	0.657																																						uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(463-465)AGG>TGG		F-box and leucine-rich repeat protein 7							17.0	21.0	20.0					5																	15928334		2077	4204	6281	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928334A>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.463A>T	5.37:g.15928334A>T	ENSP00000423630:p.Arg155Trp						p.R155W	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	944	+			155			F-box.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.463A>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214087	0.79352	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.54071	0.59;0.59;0.59	5.46	5.46	0.80206	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.144833	0.64402	D	0.000005	T	0.77061	0.4075	M	0.91768	3.24	0.54753	D	0.999986	D	0.65815	0.995	D	0.65010	0.931	T	0.83150	-0.0104	10	0.87932	D	0	.	15.5305	0.75956	1.0:0.0:0.0:0.0	.	155	Q9UJT9	FBXL7_HUMAN	W	155;108;143	ENSP00000423630:R155W;ENSP00000425184:R108W;ENSP00000329632:R143W	ENSP00000329632:R143W	R	+	1	2	FBXL7	15981334	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.427000	0.52785	2.083000	0.62718	0.459000	0.35465	AGG		0.657	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	8	0	0	0	0	4	8				
ADAMTS12	81792	broad.mit.edu	37	5	33576173	33576173	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:33576173C>T	ENST00000504830.1	-	19	4293	c.3958G>A	c.(3958-3960)Gga>Aga	p.G1320R	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1235R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1320	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						CTCCAGTTTCCGACGATCCAG	0.448										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3958-3960)GGA>AGA		ADAM metallopeptidase with thrombospondin type 1							86.0	86.0	86.0					5																	33576173		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576173C>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.3958G>A	5.37:g.33576173C>T	ENSP00000422554:p.Gly1320Arg	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1235R	p.G1320R	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	4121	-			1320			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3958G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056778	0.55325	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.64260	-0.09;-0.09	5.61	4.74	0.60224	.	0.390057	0.26032	N	0.026749	D	0.82861	0.5129	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	D	0.86649	0.1897	10	0.72032	D	0.01	.	14.7912	0.69844	0.0:0.9299:0.0:0.0701	.	1235;1320	P58397-3;P58397	.;ATS12_HUMAN	R	1320;1235	ENSP00000422554:G1320R;ENSP00000344847:G1235R	ENSP00000344847:G1235R	G	-	1	0	ADAMTS12	33611930	0.998000	0.40836	0.993000	0.49108	0.294000	0.27393	3.284000	0.51708	2.653000	0.90120	0.655000	0.94253	GGA		0.448	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		18	60	0	0	0	0	18	60				
HSD17B4	3295	broad.mit.edu	37	5	118810155	118810155	+	Splice_Site	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:118810155G>A	ENST00000256216.6	+	4	413	c.280G>A	c.(280-282)Gat>Aat	p.D94N	HSD17B4_ENST00000414835.2_De_novo_Start_OutOfFrame|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000510025.1_Splice_Site_p.D70N|HSD17B4_ENST00000515320.1_Splice_Site_p.D76N|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000504811.1_Splice_Site_p.D119N	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	94	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGGAAGAATAGGTGATGTTTC	0.388																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(280-282)GAT>AAT		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						263.0	266.0	265.0					5																	118810155		2202	4300	6502	SO:0001630	splice_region_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118810155G>A		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.280+1G>A	5.37:g.118810155G>A						HSD17B4_uc011cwg.1_Missense_Mutation_p.D70N|HSD17B4_uc011cwh.1_Missense_Mutation_p.D76N|HSD17B4_uc011cwi.1_Missense_Mutation_p.D119N|HSD17B4_uc003ksk.3_5'UTR|HSD17B4_uc011cwj.1_5'Flank|HSD17B4_uc010jcn.1_5'Flank	p.D94N	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	4	403	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	94			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.280G>A	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	36	5.822457	0.96989	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.96	5.96	0.96718	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.999;0.995;0.976	D	0.97041	0.9757	10	0.59425	D	0.04	-27.4663	19.9964	0.97386	0.0:0.0:1.0:0.0	.	119;76;70;94	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	N	94;76;70;119	ENSP00000256216:D94N;ENSP00000424613:D76N;ENSP00000424940:D70N;ENSP00000420914:D119N	ENSP00000256216:D94N	D	+	1	0	HSD17B4	118838054	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.751000	0.98889	2.833000	0.97629	0.591000	0.81541	GAT		0.388	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	Missense_Mutation	12	82	0	0	0	0	12	82				
TIMD4	91937	broad.mit.edu	37	5	156349204	156349204	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:156349204C>A	ENST00000274532.2	-	7	974	c.918G>T	c.(916-918)atG>atT	p.M306I	TIMD4_ENST00000406964.1_Missense_Mutation_p.M8I|TIMD4_ENST00000407087.3_Missense_Mutation_p.M278I	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	306						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCATTCTTCATTGACATGG	0.502																																						uc003lwh.2		NA																	0				ovary(2)	2						c.(916-918)ATG>ATT		T-cell immunoglobulin and mucin domain							205.0	183.0	191.0					5																	156349204		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156349204C>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.918G>T	5.37:g.156349204C>A	ENSP00000274532:p.Met306Ile					TIMD4_uc010jii.2_Missense_Mutation_p.M278I|TIMD4_uc003lwg.2_Missense_Mutation_p.M8I	p.M306I	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	975	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	306			Extracellular (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.918G>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.557569	0.00910	.	.	ENSG00000145850	ENST00000274532;ENST00000406964;ENST00000407087	T;T;T	0.69040	-0.37;-0.37;-0.37	0.593	-0.397	0.12423	.	2.361370	0.02656	U	0.107021	T	0.41696	0.1170	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.12156	0.001;0.007	T	0.26538	-1.0100	9	0.08599	T	0.76	14.1387	.	.	.	.	278;306	B5MCL9;Q96H15	.;TIMD4_HUMAN	I	306;8;278	ENSP00000274532:M306I;ENSP00000385882:M8I;ENSP00000385973:M278I	ENSP00000274532:M306I	M	-	3	0	TIMD4	156281782	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.384000	0.01063	-0.229000	0.09854	-0.225000	0.12378	ATG		0.502	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		5	28	1	0	3.6e-05	4.23e-05	5	28				
STK10	6793	broad.mit.edu	37	5	171517330	171517330	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:171517330G>A	ENST00000176763.5	-	10	1934	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	531					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)			ACAAATTTGCGTGTCCGCTTG	0.502																																						uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(1591-1593)CGC>TGC		serine/threonine kinase 10							248.0	226.0	233.0					5																	171517330		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517330G>A	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.1591C>T	5.37:g.171517330G>A	ENSP00000176763:p.Arg531Cys						p.R531C	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1891	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	531					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1591C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218921	0.58560	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	D	0.82711	-1.64	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.90631	0.7062	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91395	0.5138	10	0.72032	D	0.01	.	10.2364	0.43286	0.0:0.0:0.802:0.198	.	531	O94804	STK10_HUMAN	C	531	ENSP00000176763:R531C	ENSP00000176763:R531C	R	-	1	0	STK10	171449935	0.900000	0.30661	0.992000	0.48379	0.903000	0.53119	1.303000	0.33470	2.122000	0.65172	0.455000	0.32223	CGC		0.502	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		7	188	0	0	0	0	7	188				
HIST1H1B	3009	broad.mit.edu	37	6	27834730	27834730	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:27834730G>T	ENST00000331442.3	-	1	629	c.578C>A	c.(577-579)cCc>cAc	p.P193H		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	193					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.A191_A195delAKPKA(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AACTGCCTTGGGCTTGGCAGG	0.572																																						uc003njx.2		NA																	1	Deletion - In frame(1)		prostate(1)	large_intestine(2)|lung(1)	3						c.(577-579)CCC>CAC		histone cluster 1, H1b							73.0	71.0	71.0					6																	27834730		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834730G>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.578C>A	6.37:g.27834730G>T	ENSP00000330074:p.Pro193His						p.P193H	NM_005322	NP_005313	P16401	H15_HUMAN			1	630	-			193					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.578C>A	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096695	0.36952	.	.	ENSG00000184357	ENST00000331442	T	0.13901	2.55	5.19	5.19	0.71726	.	0.312467	0.27315	N	0.019927	T	0.09379	0.0231	N	0.08118	0	0.40910	D	0.984228	D	0.67145	0.996	P	0.54372	0.75	T	0.29731	-1.0002	10	0.87932	D	0	-20.8653	18.087	0.89461	0.0:0.0:1.0:0.0	.	193	P16401	H15_HUMAN	H	193	ENSP00000330074:P193H	ENSP00000330074:P193H	P	-	2	0	HIST1H1B	27942709	1.000000	0.71417	0.660000	0.29694	0.045000	0.14185	3.565000	0.53798	2.600000	0.87896	0.655000	0.94253	CCC		0.572	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		19	77	1	0	1.26e-06	1.56e-06	19	77				
PPP1R10	5514	broad.mit.edu	37	6	30574254	30574254	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:30574254G>A	ENST00000376511.2	-	8	1177	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	209	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCAGTGGAACGGAACTTGGCA	0.567																																						uc003nqn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(625-627)CGT>TGT		protein phosphatase 1, regulatory subunit 10							93.0	83.0	87.0					6																	30574254		2203	4300	6503	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30574254G>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.625C>T	6.37:g.30574254G>A	ENSP00000365694:p.Arg209Cys					PPP1R10_uc010jsc.1_5'UTR	p.R209C	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			8	1177	-			209			Interaction with TOX4 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.625C>T	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554794	0.65425	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.56776	0.44	5.82	5.82	0.92795	.	0.051968	0.85682	D	0.000000	T	0.51312	0.1667	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58284	-0.7663	10	0.87932	D	0	-15.2032	13.7877	0.63119	0.0:0.0:0.8464:0.1536	.	209	Q96QC0	PP1RA_HUMAN	C	209	ENSP00000365694:R209C	ENSP00000365694:R209C	R	-	1	0	PPP1R10	30682233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.511000	0.73733	2.755000	0.94549	0.591000	0.81541	CGT		0.567	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		12	78	0	0	0	0	12	78				
VPS52	6293	broad.mit.edu	37	6	33236966	33236966	+	Splice_Site	SNP	G	G	A	rs148755872	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:33236966G>A	ENST00000445902.2	-	6	591	c.373C>T	c.(373-375)Cga>Tga	p.R125*	RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	125					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGCTCCATTCGCTGTAGGGAG	0.498																																						uc003odm.1		NA																	0				ovary(4)|skin(1)	5						c.(373-375)CGA>TGA		vacuolar protein sorting 52		G	stop/ARG	1,3021		0,1,1510	100.0	106.0	104.0		373	5.0	1.0	6	dbSNP_134	104	1,5417		0,1,2708	yes	stop-gained-near-splice	VPS52	NM_022553.4		0,2,4218	AA,AG,GG		0.0185,0.0331,0.0237		125/724	33236966	2,8438	1511	2709	4220	SO:0001630	splice_region_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236966G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.373-1C>T	6.37:g.33236966G>A						VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_Nonsense_Mutation_p.R50*|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	p.R125*	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			6	583	-			125			Potential.		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	ENST00000445902.2	37	c.373C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	37	6.068661	0.97251	3.31E-4	1.85E-4	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-13.4228	16.1872	0.81962	0.0:0.0:1.0:0.0	.	.	.	.	X	125;103	.	ENSP00000414785:R103X	R	-	1	2	VPS52	33344944	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	5.030000	0.64128	2.776000	0.95493	0.573000	0.79308	CGA		0.498	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	Nonsense_Mutation	7	99	0	0	0	0	7	99				
PKHD1	5314	broad.mit.edu	37	6	51923195	51923195	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:51923195G>T	ENST00000371117.3	-	16	1713	c.1438C>A	c.(1438-1440)Cct>Act	p.P480T	PKHD1_ENST00000340994.4_Missense_Mutation_p.P480T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	480					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)					ACCACATCAGGATTCAGCCAG	0.552																																						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.(1438-1440)CCT>ACT		fibrocystin isoform 1							183.0	168.0	173.0					6																	51923195		2203	4300	6503	SO:0001583	missense	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.chr6:51923195G>T	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.1438C>A	6.37:g.51923195G>T	ENSP00000360158:p.Pro480Thr					PKHD1_uc003pai.2_Missense_Mutation_p.P480T	p.P480T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			16	1714	-	Lung NSC(77;0.0605)		480			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.1438C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997153	0.74818	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87887	-2.31;-2.31	5.94	5.06	0.68205	.	0.000000	0.64402	D	0.000001	D	0.89051	0.6605	L	0.59436	1.845	0.34653	D	0.72187	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87809	0.2630	10	0.25751	T	0.34	.	16.1262	0.81397	0.0:0.1337:0.8663:0.0	.	480;480	P08F94-2;P08F94	.;PKHD1_HUMAN	T	480	ENSP00000360158:P480T;ENSP00000341097:P480T	ENSP00000341097:P480T	P	-	1	0	PKHD1	52031154	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	4.888000	0.63164	1.483000	0.48342	0.650000	0.86243	CCT		0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		29	94	1	0	3.65e-15	4.72e-15	29	94				
PHF3	23469	broad.mit.edu	37	6	64416739	64416739	+	Silent	SNP	A	A	G	rs541787048		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:64416739A>G	ENST00000262043.3	+	13	4024	c.3684A>G	c.(3682-3684)gtA>gtG	p.V1228V	PHF3_ENST00000393387.1_Silent_p.V1228V			Q92576	PHF3_HUMAN	PHD finger protein 3	1228					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTATCCAGTATCTGGCTCCC	0.398													A|||	1	0.000199681	0.0	0.0	5008	,	,		17007	0.001		0.0	False		,,,				2504	0.0				GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(3682-3684)GTA>GTG		PHD finger protein 3							132.0	125.0	127.0					6																	64416739		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64416739A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3684A>G	6.37:g.64416739A>G						PHF3_uc010kah.1_Silent_p.V1042V|PHF3_uc003pen.2_Silent_p.V1140V|PHF3_uc011dxs.1_Silent_p.V497V	p.V1228V	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		12	3710	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1228					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.3684A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	9.461	1.092996	0.20471	.	.	ENSG00000118482	ENST00000505138	.	.	.	5.79	-6.62	0.01813	.	.	.	.	.	T	0.26882	0.0658	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43360	-0.9396	4	.	.	.	-15.7729	4.6019	0.12357	0.308:0.0747:0.4499:0.1674	.	.	.	.	C	17	.	.	Y	+	2	0	PHF3	64474698	0.000000	0.05858	0.898000	0.35279	0.988000	0.76386	-2.830000	0.00744	-1.135000	0.02895	-0.353000	0.07706	TAT		0.398	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			29	102	0	0	0	0	29	102				
SLC16A10	117247	broad.mit.edu	37	6	111409193	111409193	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:111409193T>C	ENST00000368851.5	+	1	413	c.238T>C	c.(238-240)Tgc>Cgc	p.C80R		NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	80					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGCCATGTGGTGCAACGGGTC	0.662																																						uc003pus.2		NA																	0					0						c.(238-240)TGC>CGC		solute carrier family 16, member 10							41.0	32.0	35.0					6																	111409193		2200	4295	6495	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111409193T>C	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.238T>C	6.37:g.111409193T>C	ENSP00000357844:p.Cys80Arg					SLC16A10_uc003pur.3_Missense_Mutation_p.C80R	p.C80R	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	1	413	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	80			Helical; (Potential).		B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.238T>C	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388222	0.82902	.	.	ENSG00000112394	ENST00000535637;ENST00000368851	T	0.41065	1.01	3.79	3.79	0.43588	Major facilitator superfamily domain, general substrate transporter (1);	0.118903	0.64402	D	0.000020	T	0.57873	0.2083	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.66424	-0.5927	10	0.87932	D	0	.	12.7166	0.57119	0.0:0.0:0.0:1.0	.	80;80	Q8TF71;Q05BR4	MOT10_HUMAN;.	R	80	ENSP00000357844:C80R	ENSP00000357844:C80R	C	+	1	0	SLC16A10	111515886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.762000	0.74950	1.588000	0.49971	0.368000	0.22195	TGC		0.662	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			6	20	0	0	0	0	6	20				
FABP7	2173	broad.mit.edu	37	6	123101594	123101594	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:123101594G>T	ENST00000368444.3	+	2	552	c.232G>T	c.(232-234)Gat>Tat	p.D78Y	FABP7_ENST00000356535.4_Missense_Mutation_p.D78Y	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	78					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	CACTGCAGATGATAGAAACTG	0.413																																						uc003pzf.2		NA																	0					0						c.(232-234)GAT>TAT		fatty acid binding protein 7, brain	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)						58.0	56.0	56.0					6																	123101594		2203	4300	6503	SO:0001583	missense	2173				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	g.chr6:123101594G>T	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"""Fatty acid binding protein family"""	3562	protein-coding gene	gene with protein product	"""brain lipid binding protein"""	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.232G>T	6.37:g.123101594G>T	ENSP00000357429:p.Asp78Tyr					FABP7_uc003pzd.2_Missense_Mutation_p.D78Y|FABP7_uc003pze.1_Missense_Mutation_p.D78Y	p.D78Y	NM_001446	NP_001437	O15540	FABP7_HUMAN		GBM - Glioblastoma multiforme(226;0.226)	2	526	+			78					B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP	ENST00000368444.3	37	c.232G>T	CCDS5127.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443056	0.83993	.	.	ENSG00000164434	ENST00000368444;ENST00000356535	T;T	0.48522	0.81;3.06	5.54	5.54	0.83059	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.76058	-0.3098	10	0.66056	D	0.02	.	19.8402	0.96679	0.0:0.0:1.0:0.0	.	78;84;78	O15540;Q59HE4;Q9H047	FABP7_HUMAN;.;.	Y	78	ENSP00000357429:D78Y;ENSP00000348931:D78Y	ENSP00000348931:D78Y	D	+	1	0	FABP7	123143293	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.852000	0.99516	2.751000	0.94390	0.563000	0.77884	GAT		0.413	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446		3	29	1	0	0.004672	0.0050494	3	29				
EPB41L2	2037	broad.mit.edu	37	6	131191188	131191188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:131191188C>T	ENST00000337057.3	-	15	2303	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E708K|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E86K|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E638K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	708					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCATTCATTTCTTCTGTGATT	0.458																																						uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2122-2124)GAA>AAA		erythrocyte membrane protein band 4.1-like 2							56.0	55.0	55.0					6																	131191188		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191188C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2122G>A	6.37:g.131191188C>T	ENSP00000338481:p.Glu708Lys					EPB41L2_uc003qce.1_Missense_Mutation_p.E86K|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.E638K|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.E638K|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.E105K	p.E708K	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2304	-	Breast(56;0.0639)		708					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2122G>A	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.103|6.103	0.387262|0.387262	0.11581|0.11581	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000530481;ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000527659;ENST00000529208;ENST00000527423;ENST00000525198|ENST00000456097	D;D;D;D;T;D;D;T|.	0.86030|.	-2.06;-1.65;-1.65;-1.92;-1.12;-2.04;-1.92;2.04|.	5.57|5.57	4.71|4.71	0.59529|0.59529	.|.	0.550023|.	0.20735|.	N|.	0.086654|.	T|T	0.35941|0.35941	0.0949|0.0949	L|L	0.50333|0.50333	1.59|1.59	0.27420|0.27420	N|N	0.954321|0.954321	D;D;B;P;P|.	0.60575|.	0.988;0.958;0.007;0.485;0.862|.	P;P;B;B;B|.	0.50314|.	0.637;0.549;0.006;0.26;0.219|.	T|T	0.26985|0.26985	-1.0087|-1.0087	10|5	0.49607|.	T|.	0.09|.	.|.	14.5321|14.5321	0.67934|0.67934	0.0:0.9293:0.0:0.0707|0.0:0.9293:0.0:0.0707	.|.	638;105;638;708;86|.	E9PHY5;E9PCC2;E9PPD9;O43491;Q6R5J7|.	.;.;.;E41L2_HUMAN;.|.	K|K	638;708;105;708;638;86;638;638;107;160|250	ENSP00000434576:E638K;ENSP00000338481:E708K;ENSP00000357110:E708K;ENSP00000436348:E638K;ENSP00000437207:E86K;ENSP00000431647:E638K;ENSP00000436641:E638K;ENSP00000437295:E107K|.	ENSP00000257986:E105K|.	E|R	-|-	1|2	0|0	EPB41L2|EPB41L2	131232881|131232881	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.881000|0.881000	0.50899|0.50899	6.296000|6.296000	0.72751|0.72751	1.363000|1.363000	0.46019|0.46019	0.555000|0.555000	0.69702|0.69702	GAA|AGA		0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			5	64	0	0	0	0	5	64				
EYA4	2070	broad.mit.edu	37	6	133783834	133783834	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:133783834G>T	ENST00000367895.5	+	9	1120	c.656G>T	c.(655-657)tGc>tTc	p.C219F	EYA4_ENST00000355286.6_Missense_Mutation_p.C196F|EYA4_ENST00000430974.2_Missense_Mutation_p.C165F|EYA4_ENST00000531901.1_Missense_Mutation_p.C219F|EYA4_ENST00000452339.2_Missense_Mutation_p.C165F|EYA4_ENST00000525849.1_Missense_Mutation_p.C196F|EYA4_ENST00000431403.2_Missense_Mutation_p.C219F|EYA4_ENST00000355167.3_Missense_Mutation_p.C219F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	219					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGAGTGGCTGCCTCAGTTAC	0.468																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(655-657)TGC>TTC		eyes absent 4 isoform a							84.0	79.0	81.0					6																	133783834		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783834G>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.656G>T	6.37:g.133783834G>T	ENSP00000356870:p.Cys219Phe					EYA4_uc011ecq.1_Missense_Mutation_p.C165F|EYA4_uc011ecr.1_Missense_Mutation_p.C165F|EYA4_uc003qed.3_Missense_Mutation_p.C219F|EYA4_uc003qee.3_Missense_Mutation_p.C196F|EYA4_uc011ecs.1_Missense_Mutation_p.C219F|uc003qef.1_Intron	p.C219F	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1114	+	Colorectal(23;0.221)		219					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.656G>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	3.991	-0.004509	0.07773	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.88431	-2.33;-2.28;-2.38;-2.38;-2.36;-2.38;-2.36;-2.38	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	N	0.02539	-0.55	0.51233	D	0.999917	B;B;D;B;B;B	0.60575	0.001;0.001;0.988;0.0;0.001;0.001	B;B;D;B;B;B	0.74348	0.005;0.003;0.983;0.002;0.003;0.005	T	0.78013	-0.2370	10	0.02654	T	1	-2.3101	16.0263	0.80548	0.0:0.0:0.8646:0.1354	.	219;165;165;196;219;219	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	F	165;165;219;219;196;219;196;219	ENSP00000395916:C165F;ENSP00000388670:C165F;ENSP00000356870:C219F;ENSP00000347294:C219F;ENSP00000347434:C196F;ENSP00000432770:C219F;ENSP00000433219:C196F;ENSP00000404558:C219F	ENSP00000347294:C219F	C	+	2	0	EYA4	133825527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	1.360000	0.45960	0.650000	0.86243	TGC		0.468	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	46	1	0	6.5e-13	8.35e-13	13	46				
PLEKHG1	57480	broad.mit.edu	37	6	151152187	151152187	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:151152187G>C	ENST00000358517.2	+	15	2151	c.1940G>C	c.(1939-1941)gGg>gCg	p.G647A	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G647A			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	647							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTCCCTTTGGGTCATCCATA	0.448																																						uc003qny.1		NA																	0				ovary(2)	2						c.(1939-1941)GGG>GCG		pleckstrin homology domain containing, family G							48.0	43.0	45.0					6																	151152187		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152187G>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1940G>C	6.37:g.151152187G>C	ENSP00000351318:p.Gly647Ala					PLEKHG1_uc011eel.1_Missense_Mutation_p.G687A|PLEKHG1_uc011eem.1_Missense_Mutation_p.G706A|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G647A	p.G647A	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2252	+			647					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1940G>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511219	0.12883	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.59502	0.26;0.26	4.75	3.79	0.43588	.	0.308856	0.37304	N	0.002143	T	0.43853	0.1266	L	0.48362	1.52	0.38848	D	0.956204	P;P;P	0.52316	0.666;0.952;0.952	B;P;P	0.49477	0.137;0.612;0.612	T	0.52328	-0.8590	10	0.72032	D	0.01	.	7.0533	0.25085	0.1862:0.0:0.8138:0.0	.	454;647;647	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	A	647	ENSP00000356297:G647A;ENSP00000351318:G647A	ENSP00000351318:G647A	G	+	2	0	PLEKHG1	151193880	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	4.273000	0.58914	2.496000	0.84212	0.555000	0.69702	GGG		0.448	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			7	34	0	0	0	0	7	34				
SYNE1	23345	broad.mit.edu	37	6	152501328	152501328	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:152501328G>T	ENST00000367255.5	-	129	24004	c.23403C>A	c.(23401-23403)agC>agA	p.S7801R	SYNE1_ENST00000448038.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7413R|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2325R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7801R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000347037.5_5'Flank	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7801					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)		GAGAAACTTTGCTTTCCATTT	0.403										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.(23401-23403)AGC>AGA		spectrin repeat containing, nuclear envelope 1							189.0	176.0	180.0					6																	152501328		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152501328G>T	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.23403C>A	6.37:g.152501328G>T	ENSP00000356224:p.Ser7801Arg	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.S2325R|SYNE1_uc003qos.3_Missense_Mutation_p.S2325R|SYNE1_uc003qot.3_Missense_Mutation_p.S7730R|SYNE1_uc003qou.3_Missense_Mutation_p.S7801R|SYNE1_uc003qop.3_5'Flank|SYNE1_uc011eez.1_Missense_Mutation_p.S3R|SYNE1_uc003qoq.3_Missense_Mutation_p.S3R|SYNE1_uc003qor.3_Missense_Mutation_p.S701R	p.S7801R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	129	24005	-		Ovarian(120;0.0955)	7801			Spectrin 27.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23403C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859940	0.71834	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.21	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	L	0.56769	1.78	0.58432	D	0.999996	D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;0.073	D;D;D;D;B	0.85130	0.997;0.997;0.994;0.997;0.13	T	0.43589	-0.9382	10	0.27785	T	0.31	.	8.0074	0.30334	0.1889:0.0:0.8111:0.0	.	7801;7801;7730;7730;3	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	R	7801;447;7730;7801;7730;7413;2325;723	ENSP00000356224:S7801R;ENSP00000356226:S447R;ENSP00000396024:S7730R;ENSP00000265368:S7801R;ENSP00000390975:S7730R;ENSP00000341887:S7413R;ENSP00000349276:S2325R;ENSP00000356220:S723R	ENSP00000265368:S7801R	S	-	3	2	SYNE1	152543021	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.459000	0.60102	2.443000	0.82685	0.655000	0.94253	AGC		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	75	1	0	2e-07	2.48e-07	18	75				
SYNE1	23345	broad.mit.edu	37	6	152529258	152529258	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:152529258A>T	ENST00000367255.5	-	125	23274	c.22673T>A	c.(22672-22674)aTt>aAt	p.I7558N	SYNE1_ENST00000448038.1_Missense_Mutation_p.I7487N|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7170N|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2082N|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7558N|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7487N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7558					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)		CTGGCTGTCAATGATCCCCCG	0.502										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.(22672-22674)ATT>AAT		spectrin repeat containing, nuclear envelope 1							98.0	90.0	93.0					6																	152529258		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152529258A>T	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.22673T>A	6.37:g.152529258A>T	ENSP00000356224:p.Ile7558Asn	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.I2082N|SYNE1_uc003qos.3_Missense_Mutation_p.I2082N|SYNE1_uc003qot.3_Missense_Mutation_p.I7487N|SYNE1_uc003qou.3_Missense_Mutation_p.I7558N|SYNE1_uc003qor.3_Missense_Mutation_p.I458N	p.I7558N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	125	23275	-		Ovarian(120;0.0955)	7558			HAT 11.|Cytoplasmic (Potential).|Spectrin 25.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22673T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677676	0.88445	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000024	T	0.54743	0.1877	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.991;0.996;0.991	T	0.62124	-0.6920	10	0.87932	D	0	.	15.7532	0.78005	1.0:0.0:0.0:0.0	.	7558;7558;7487;7487	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	N	7558;204;7487;7558;7487;7170;2082;480	ENSP00000356224:I7558N;ENSP00000356226:I204N;ENSP00000396024:I7487N;ENSP00000265368:I7558N;ENSP00000390975:I7487N;ENSP00000341887:I7170N;ENSP00000349276:I2082N;ENSP00000356220:I480N	ENSP00000265368:I7558N	I	-	2	0	SYNE1	152570951	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.339000	0.96797	2.117000	0.64856	0.460000	0.39030	ATT		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	39	0	0	0	0	4	39				
NFE2L3	9603	broad.mit.edu	37	7	26225151	26225151	+	Silent	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:26225151T>C	ENST00000056233.3	+	4	2092	c.1833T>C	c.(1831-1833)tgT>tgC	p.C611C		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	611	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ATGATGTATGTAACTTGCAAG	0.353																																						uc003sxq.2		NA																	0				skin(3)|ovary(1)	4						c.(1831-1833)TGT>TGC		nuclear factor erythroid 2-like 3							59.0	58.0	58.0					7																	26225151		2203	4299	6502	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225151T>C	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1833T>C	7.37:g.26225151T>C							p.C611C	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	2105	+			611			Leucine-zipper.		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.1833T>C	CCDS5396.1																																																																																				0.353	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			9	58	0	0	0	0	9	58				
MLXIPL	51085	broad.mit.edu	37	7	73008629	73008629	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:73008629G>A	ENST00000313375.3	-	16	2462	c.2415C>T	c.(2413-2415)taC>taT	p.Y805Y	MLXIPL_ENST00000429400.2_Silent_p.Y786Y|MLXIPL_ENST00000395189.1_Silent_p.Y712Y|MLXIPL_ENST00000414749.2_Silent_p.Y803Y|MLXIPL_ENST00000434326.1_Silent_p.Y711Y|MLXIPL_ENST00000354613.1_Silent_p.Y784Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	805					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGAGAGCAGTACTGGTCCA	0.627																																						uc003tyn.1		NA																	0				pancreas(1)	1						c.(2413-2415)TAC>TAT		Williams Beuren syndrome chromosome region 14							84.0	75.0	78.0					7																	73008629		2203	4300	6503	SO:0001819	synonymous_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73008629G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2415C>T	7.37:g.73008629G>A						MLXIPL_uc003tyj.1_Silent_p.Y184Y|MLXIPL_uc003tyk.1_Silent_p.Y784Y|MLXIPL_uc003tyl.1_Silent_p.Y803Y|MLXIPL_uc003tym.1_Silent_p.Y786Y|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Silent_p.Y711Y	p.Y805Y	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			16	2463	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	805					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	c.2415C>T	CCDS5553.1																																																																																				0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		14	56	0	0	0	0	14	56				
ABHD11	83451	broad.mit.edu	37	7	73151996	73151996	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:73151996T>A	ENST00000222800.3	-	3	427	c.358A>T	c.(358-360)Agc>Tgc	p.S120C	ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000395147.4_Missense_Mutation_p.S120C|ABHD11_ENST00000458339.1_Missense_Mutation_p.S120C|ABHD11_ENST00000437775.2_Missense_Mutation_p.S113C|LINC00035_ENST00000427153.1_RNA	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	120						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGGTCCTGGCTCATGATCTCG	0.637																																						uc003tzb.2		NA																	0					0						c.(358-360)AGC>TGC		abhydrolase domain containing 11 isoform 1							79.0	62.0	67.0					7																	73151996		2203	4300	6503	SO:0001583	missense	83451						hydrolase activity	g.chr7:73151996T>A	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.358A>T	7.37:g.73151996T>A	ENSP00000222800:p.Ser120Cys					RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Missense_Mutation_p.S120C|ABHD11_uc003tzc.2_Missense_Mutation_p.S113C|ABHD11_uc003tza.2_Missense_Mutation_p.S7C	p.S120C	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN			3	415	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	120					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.358A>T	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943658	0.73672	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000322862;ENST00000458339;ENST00000395147	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.2	5.2	0.72013	.	0.142519	0.64402	D	0.000006	T	0.80292	0.4596	M	0.77616	2.38	0.58432	D	0.999994	D;D;B	0.89917	1.0;0.998;0.407	D;D;B	0.74674	0.984;0.919;0.359	T	0.82587	-0.0383	10	0.72032	D	0.01	-20.5402	11.4491	0.50142	0.0:0.0:0.0:1.0	.	120;113;120	C9J7Q4;Q8NFV4-4;Q8NFV4	.;.;ABHDB_HUMAN	C	113;120;113;120;120	ENSP00000416970:S113C;ENSP00000222800:S120C;ENSP00000397666:S120C;ENSP00000378579:S120C	ENSP00000222800:S120C	S	-	1	0	ABHD11	72789932	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.198000	0.42705	1.962000	0.57031	0.408000	0.27601	AGC		0.637	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			4	31	0	0	0	0	4	31				
FZD1	8321	broad.mit.edu	37	7	90895658	90895658	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:90895658G>T	ENST00000287934.2	+	1	1876	c.1463G>T	c.(1462-1464)cGt>cTt	p.R488L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	488					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GACGCGCTGCGTGGCTTCGTG	0.622																																						uc003ula.2		NA																	0					0						c.(1462-1464)CGT>CTT		frizzled 1 precursor							197.0	172.0	181.0					7																	90895658		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895658G>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1463G>T	7.37:g.90895658G>T	ENSP00000287934:p.Arg488Leu						p.R488L	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1876	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		488			Extracellular (Potential).		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1463G>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544397	0.86022	.	.	ENSG00000157240	ENST00000287934	D	0.82803	-1.65	4.65	4.65	0.58169	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000008	D	0.88385	0.6422	M	0.62209	1.925	0.58432	D	0.999999	D	0.53745	0.962	P	0.58454	0.839	D	0.89497	0.3761	10	0.62326	D	0.03	.	17.7219	0.88353	0.0:0.0:1.0:0.0	.	488	Q9UP38	FZD1_HUMAN	L	488	ENSP00000287934:R488L	ENSP00000287934:R488L	R	+	2	0	FZD1	90733594	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.657000	0.98554	2.421000	0.82119	0.561000	0.74099	CGT		0.622	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		32	165	1	0	6.01e-18	7.82e-18	32	165				
CCDC132	55610	broad.mit.edu	37	7	92905556	92905556	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:92905556A>T	ENST00000305866.5	+	12	1009	c.881A>T	c.(880-882)gAa>gTa	p.E294V	CCDC132_ENST00000541136.1_Missense_Mutation_p.E105V|CCDC132_ENST00000251739.5_Missense_Mutation_p.E294V|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_Missense_Mutation_p.E25V|CCDC132_ENST00000544910.1_Missense_Mutation_p.E264V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	294						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTATGTGGAACTATGTGCA	0.378																																						uc003umo.2		NA																	0					0						c.(880-882)GAA>GTA		coiled-coil domain containing 132 isoform a							188.0	168.0	175.0					7																	92905556		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92905556A>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.881A>T	7.37:g.92905556A>T	ENSP00000307666:p.Glu294Val					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.E264V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.E294V	p.E294V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		12	1009	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		294					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.881A>T	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.4|29.4	5.000091|5.000091	0.93227|0.93227	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751|ENST00000458707	T|.	0.50548|.	0.74|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Vacuolar protein sorting-associated protein 54 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71913|0.71913	0.3396|0.3396	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.996;0.981|.	D;D;P|.	0.80764|.	0.994;0.951;0.779|.	T|T	0.70788|0.70788	-0.4777|-0.4777	10|5	0.44086|.	T|.	0.13|.	-8.0036|-8.0036	16.0725|16.0725	0.80946|0.80946	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	264;294;294|.	F5H5U7;Q96JG6;Q96JG6-2|.	.;CC132_HUMAN;.|.	V|Y	294;294;264;105;25|81	ENSP00000325582:E25V|.	ENSP00000251739:E294V|.	E|N	+|+	2|1	0|0	CCDC132|CCDC132	92743492|92743492	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.992000|0.992000	0.81027|0.81027	9.281000|9.281000	0.95811|0.95811	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.378	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		29	90	0	0	0	0	29	90				
COL1A2	1278	broad.mit.edu	37	7	94058730	94058730	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:94058730A>G	ENST00000297268.6	+	51	4413	c.3942A>G	c.(3940-3942)gtA>gtG	p.V1314V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1314	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)	CTGTTCTTGTAGATGGCTGCT	0.478										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3940-3942)GTA>GTG		alpha 2 type I collagen precursor	Collagenase(DB00048)						98.0	88.0	91.0					7																	94058730		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:94058730A>G	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.3942A>G	7.37:g.94058730A>G		HNSCC(75;0.22)				COL1A2_uc011kib.1_Silent_p.V166V	p.V1314V	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		51	4413	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1314			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.3942A>G	CCDS34682.1																																																																																				0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		7	59	0	0	0	0	7	59				
RELN	5649	broad.mit.edu	37	7	103207056	103207056	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:103207056G>C	ENST00000428762.1	-	32	4898	c.4739C>G	c.(4738-4740)cCg>cGg	p.P1580R	RELN_ENST00000343529.5_Missense_Mutation_p.P1580R|RELN_ENST00000424685.2_Missense_Mutation_p.P1580R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1580					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)	p.P1580L(1)		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)		ACCATGTTGCGGTTGCCACCA	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4738-4740)CCG>CGG		reelin isoform a							123.0	107.0	113.0					7																	103207056		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.chr7:103207056G>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.4739C>G	7.37:g.103207056G>C	ENSP00000392423:p.Pro1580Arg					RELN_uc010liz.2_Missense_Mutation_p.P1580R	p.P1580R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	32	4899	-			1580					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4739C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726100	0.69074	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.39997	1.05;1.72;1.05	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60459	-0.7259	10	0.19590	T	0.45	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	1580;1580	P78509-2;P78509	.;RELN_HUMAN	R	1580	ENSP00000392423:P1580R;ENSP00000345694:P1580R;ENSP00000388446:P1580R	ENSP00000345694:P1580R	P	-	2	0	RELN	102994292	1.000000	0.71417	0.856000	0.33681	0.630000	0.37929	9.209000	0.95087	2.826000	0.97356	0.491000	0.48974	CCG		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		14	43	0	0	0	0	14	43				
PAX4	5078	broad.mit.edu	37	7	127251714	127251714	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:127251714A>G	ENST00000341640.2	-	8	969	c.764T>C	c.(763-765)gTg>gCg	p.V255A	PAX4_ENST00000463946.1_Missense_Mutation_p.V253A|PAX4_ENST00000378740.2_Missense_Mutation_p.V255A|PAX4_ENST00000338516.3_Silent_p.C244C	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	263					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGCTGTGGGCACACTGCCAGG	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(763-765)GTG>GCG		paired box 4							49.0	54.0	53.0					7																	127251714		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127251714A>G		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.764T>C	7.37:g.127251714A>G	ENSP00000339906:p.Val255Ala					PAX4_uc003vmf.2_Missense_Mutation_p.V253A|PAX4_uc003vmg.1_Missense_Mutation_p.V255A	p.V255A	NM_006193	NP_006184	O43316	PAX4_HUMAN			8	970	-			263					O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.764T>C	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	A	9.058	0.993740	0.19043	.	.	ENSG00000106331	ENST00000341640;ENST00000378740;ENST00000463946	D;D	0.93712	-3.27;-3.12	5.38	1.58	0.23477	.	0.747204	0.11423	N	0.565562	D	0.88562	0.6470	L	0.54323	1.7	0.09310	N	1	B;B;B	0.34015	0.43;0.435;0.292	B;B;B	0.33254	0.16;0.057;0.122	T	0.75872	-0.3164	10	0.23302	T	0.38	.	4.4385	0.11562	0.6543:0.1684:0.1773:0.0	.	255;263;253	O43316-4;O43316;G3V4Q1	.;PAX4_HUMAN;.	A	255;263;253	ENSP00000339906:V255A;ENSP00000451923:V253A	ENSP00000339906:V255A	V	-	2	0	PAX4	127038950	0.002000	0.14202	0.015000	0.15790	0.593000	0.36681	0.636000	0.24644	0.088000	0.17205	-0.290000	0.09829	GTG		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			15	71	0	0	0	0	15	71				
CREB3L2	64764	broad.mit.edu	37	7	137567275	137567275	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:137567275G>A	ENST00000330387.6	-	11	1721	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	457					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAGCAGGGAGGAACCTCTATC	0.582			T	FUS	fibromyxoid sarcoma																																	uc003vtw.2		NA		Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(1369-1371)TCC>TTC		cAMP responsive element binding protein 3-like							48.0	49.0	49.0					7																	137567275		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137567275G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1370C>T	7.37:g.137567275G>A	ENSP00000329140:p.Ser457Phe					CREB3L2_uc003vtv.2_Missense_Mutation_p.S394F	p.S457F	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			11	1765	-			457			Lumenal (Potential).		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.1370C>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274973	0.40194	.	.	ENSG00000182158	ENST00000330387	T	0.58940	0.3	5.59	5.59	0.84812	.	0.387676	0.29139	N	0.013025	T	0.36331	0.0963	N	0.08118	0	0.80722	D	1	B	0.33448	0.412	B	0.27887	0.084	T	0.27191	-1.0081	10	0.17369	T	0.5	-1.7388	17.8366	0.88699	0.0:0.0:1.0:0.0	.	457	Q70SY1	CR3L2_HUMAN	F	457	ENSP00000329140:S457F	ENSP00000329140:S457F	S	-	2	0	CREB3L2	137217815	0.999000	0.42202	0.697000	0.30258	0.149000	0.21700	4.363000	0.59473	2.639000	0.89480	0.555000	0.69702	TCC		0.582	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		6	42	0	0	0	0	6	42				
KIAA1549	57670	broad.mit.edu	37	7	138604033	138604033	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:138604033C>T	ENST00000422774.1	-	2	387	c.339G>A	c.(337-339)ccG>ccA	p.P113P	KIAA1549_ENST00000242365.4_Silent_p.P63P|KIAA1549_ENST00000440172.1_Silent_p.P113P			Q9HCM3	K1549_HUMAN	KIAA1549	113						integral component of membrane (GO:0016021)		p.P113P(1)|p.P63P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGTGGCAGACGGCGGGGCTG	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(337-339)CCG>CCA		hypothetical protein LOC57670 isoform 1							108.0	108.0	108.0					7																	138604033		1967	4176	6143	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138604033C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.339G>A	7.37:g.138604033C>T						KIAA1549_uc003vuk.3_Silent_p.P63P|KIAA1549_uc011kqj.1_Silent_p.P113P	p.P113P	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	388	-			113					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.339G>A	CCDS56513.1																																																																																				0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			11	95	0	0	0	0	11	95				
OR6V1	346517	broad.mit.edu	37	7	142749510	142749510	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:142749510C>T	ENST00000418316.1	+	1	94	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCAGGCCCTTCTGTATGGCCC	0.512																																						uc011ksv.1		NA																	0				ovary(1)	1						c.(73-75)CTG>TTG		olfactory receptor, family 6, subfamily V,							191.0	183.0	186.0					7																	142749510		1971	4141	6112	SO:0001819	synonymous_variant	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749510C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.73C>T	7.37:g.142749510C>T							p.L25L	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	73	+	Melanoma(164;0.059)		25			Helical; Name=1; (Potential).		A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	c.73C>T	CCDS47728.1																																																																																				0.512	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			4	154	0	0	0	0	4	154				
C7orf33	202865	broad.mit.edu	37	7	148288032	148288032	+	Silent	SNP	T	T	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:148288032T>G	ENST00000307003.2	+	1	376	c.15T>G	c.(13-15)gtT>gtG	p.V5V		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	5										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGTGGAAGTTCAAAGCCTCA	0.537																																						uc003wew.2		NA																	0				central_nervous_system(1)	1						c.(13-15)GTT>GTG		hypothetical protein LOC202865							54.0	55.0	55.0					7																	148288032		2203	4300	6503	SO:0001819	synonymous_variant	202865							g.chr7:148288032T>G	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.15T>G	7.37:g.148288032T>G							p.V5V	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	376	+	Melanoma(164;0.15)		5						Silent	SNP	ENST00000307003.2	37	c.15T>G	CCDS5890.1																																																																																				0.537	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		10	37	0	0	0	0	10	37				
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:62212794C>A	ENST00000519846.1	+	3	880	c.408C>A	c.(406-408)taC>taA	p.Y136*	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Nonsense_Mutation_p.Y136*			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443																																						uc003xuh.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(1)	5						c.(406-408)TAC>TAA		retinaldehyde binding protein 1-like 1																																				SO:0001587	stop_gained	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212794C>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.408C>A	8.37:g.62212794C>A	ENSP00000428402:p.Tyr136*					CLVS1_uc003xug.2_Nonsense_Mutation_p.Y136*|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Nonsense_Mutation_p.Y136*	p.Y136*	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	732	+			136			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Nonsense_Mutation	SNP	ENST00000519846.1	37	c.408C>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	c	37	6.601730	0.97697	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	.	.	.	5.6	-7.27	0.01461	.	0.183014	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.2112	14.3349	0.66581	0.0:0.4343:0.0:0.5657	.	.	.	.	X	136	.	.	Y	+	3	2	CLVS1	62375348	0.000000	0.05858	0.889000	0.34880	0.978000	0.69477	-4.727000	0.00193	-1.377000	0.02123	-0.119000	0.15052	TAC		0.443	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		9	28	1	0	2.18e-05	2.59e-05	9	28				
NCOA2	10499	broad.mit.edu	37	8	71036232	71036232	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:71036232T>A	ENST00000452400.2	-	21	4361	c.4180A>T	c.(4180-4182)Atg>Ttg	p.M1394L	NCOA2_ENST00000267974.4_Missense_Mutation_p.M482L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1394					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGGTCGCCATGGACACATTG	0.517			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(4180-4182)ATG>TTG		nuclear receptor coactivator 2							138.0	133.0	134.0					8																	71036232		2183	4278	6461	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71036232T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.4180A>T	8.37:g.71036232T>A	ENSP00000399968:p.Met1394Leu					NCOA2_uc011lfb.1_Missense_Mutation_p.M482L	p.M1394L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		21	4342	-	Breast(64;0.201)		1394					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.4180A>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799433	0.50208	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	T;T	0.09538	4.48;2.97	5.84	4.67	0.58626	.	0.036734	0.85682	N	0.000000	T	0.12944	0.0314	L	0.54323	1.7	0.49687	D	0.999816	B;B	0.23806	0.0;0.091	B;B	0.22753	0.002;0.041	T	0.02173	-1.1201	10	0.66056	D	0.02	.	11.723	0.51693	0.1444:0.0:0.0:0.8555	.	482;1394	F8WAJ2;Q15596	.;NCOA2_HUMAN	L	1394;482	ENSP00000399968:M1394L;ENSP00000267974:M482L	ENSP00000267974:M482L	M	-	1	0	NCOA2	71198786	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.654000	0.54453	1.007000	0.39238	0.533000	0.62120	ATG		0.517	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			6	30	0	0	0	0	6	30				
C8orf37	157657	broad.mit.edu	37	8	96259940	96259940	+	Missense_Mutation	SNP	G	G	A	rs387907136		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:96259940G>A	ENST00000286688.5	-	6	540	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	177			R -> W (in CORD16). {ECO:0000269|PubMed:22177090}.			cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					GCATATGCCCGTGTTCCTTTC	0.393																																						uc003yho.1		NA																	0					0						c.(529-531)CGG>TGG		hypothetical protein LOC157657							173.0	157.0	163.0					8																	96259940		2203	4300	6503	SO:0001583	missense	157657							g.chr8:96259940G>A	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.529C>T	8.37:g.96259940G>A	ENSP00000286688:p.Arg177Trp						p.R177W	NM_177965	NP_808880	Q96NL8	CH037_HUMAN			6	549	-	Breast(36;3.41e-05)		177						Missense_Mutation	SNP	ENST00000286688.5	37	c.529C>T	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351990	0.82132	.	.	ENSG00000156172	ENST00000286688	D	0.83673	-1.75	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.78801	2.425	0.50039	D	0.999844	D	0.89917	1.0	D	0.97110	1.0	D	0.92252	0.5809	10	0.87932	D	0	-10.9234	19.2192	0.93790	0.0:0.0:1.0:0.0	.	177	Q96NL8	CH037_HUMAN	W	177	ENSP00000286688:R177W	ENSP00000286688:R177W	R	-	1	2	C8orf37	96329116	1.000000	0.71417	0.923000	0.36655	0.935000	0.57460	5.837000	0.69381	2.557000	0.86248	0.561000	0.74099	CGG		0.393	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		7	45	0	0	0	0	7	45				
CSMD3	114788	broad.mit.edu	37	8	114449052	114449052	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:114449052G>C	ENST00000297405.5	-	1	276	c.32C>G	c.(31-33)gCa>gGa	p.A11G	CSMD3_ENST00000352409.3_Missense_Mutation_p.A11G|CSMD3_ENST00000455883.2_Missense_Mutation_p.A11G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	11						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						GGATTCCTTTGCTCGGCTTTC	0.517										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(31-33)GCA>GGA		CUB and Sushi multiple domains 3 isoform 1							102.0	109.0	107.0					8																	114449052		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114449052G>C	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.32C>G	8.37:g.114449052G>C	ENSP00000297405:p.Ala11Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1458	CSMD3_uc011lhx.1_Missense_Mutation_p.A11G|CSMD3_uc010mcx.1_Missense_Mutation_p.A11G|CSMD3_uc003ynx.3_Missense_Mutation_p.A11G	p.A11G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			1	191	-			11			Cytoplasmic (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.32C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986460	0.35036	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26810	2.05;1.71;2.05	5.77	4.91	0.64330	.	0.000000	0.38111	U	0.001803	T	0.28863	0.0716	N	0.08118	0	0.33275	D	0.56153	P;P;D;P	0.65815	0.525;0.621;0.995;0.565	B;B;D;B	0.64237	0.322;0.23;0.923;0.172	T	0.49370	-0.8947	10	0.62326	D	0.03	.	14.1372	0.65295	0.072:0.0:0.928:0.0	.	11;11;11;11	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	G	11	ENSP00000297405:A11G;ENSP00000412263:A11G;ENSP00000343124:A11G	ENSP00000297405:A11G	A	-	2	0	CSMD3	114518228	1.000000	0.71417	0.817000	0.32601	0.570000	0.35934	4.005000	0.57075	1.451000	0.47736	-0.137000	0.14449	GCA		0.517	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	79	0	0	0	0	21	79				
ENPP2	5168	broad.mit.edu	37	8	120595959	120595959	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:120595959C>G	ENST00000075322.6	-	17	1599	c.1541G>C	c.(1540-1542)tGt>tCt	p.C514S	ENPP2_ENST00000522826.1_Missense_Mutation_p.C514S|ENPP2_ENST00000259486.6_Missense_Mutation_p.C566S|ENPP2_ENST00000427067.2_Missense_Mutation_p.C510S|ENPP2_ENST00000522167.1_Missense_Mutation_p.C153S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	514					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGACTTACCACACATAACATT	0.318																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1540-1542)TGT>TCT		autotaxin isoform 2 preproprotein							89.0	92.0	91.0					8																	120595959		2202	4300	6502	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120595959C>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1541G>C	8.37:g.120595959C>G	ENSP00000075322:p.Cys514Ser					ENPP2_uc011lic.1_Missense_Mutation_p.C31S|ENPP2_uc003yor.1_Missense_Mutation_p.C153S|ENPP2_uc003yos.1_Missense_Mutation_p.C566S|ENPP2_uc010mdd.1_Missense_Mutation_p.C514S	p.C514S	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		17	1627	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		514					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1541G>C	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328826	0.81690	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.44	5.44	0.79542	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.999;0.997	D	0.87835	0.2647	10	0.87932	D	0	.	19.2599	0.93964	0.0:1.0:0.0:0.0	.	31;514;514;566;153	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	S	566;510;153;514;514	ENSP00000259486:C566S;ENSP00000403315:C510S;ENSP00000429476:C153S;ENSP00000428291:C514S;ENSP00000075322:C514S	ENSP00000075322:C514S	C	-	2	0	ENPP2	120665140	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.790000	0.85794	2.550000	0.86006	0.561000	0.74099	TGT		0.318	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			10	63	0	0	0	0	10	63				
COL22A1	169044	broad.mit.edu	37	8	139649017	139649017	+	Missense_Mutation	SNP	C	C	T	rs199555238		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:139649017C>T	ENST00000303045.6	-	48	3969	c.3523G>A	c.(3523-3525)Gca>Aca	p.A1175T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A1155T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1175	Collagen-like 11.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCACCATCTGCACCACGTTCT	0.393										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3523-3525)GCA>ACA		collagen, type XXII, alpha 1							223.0	218.0	219.0					8																	139649017		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139649017C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3523G>A	8.37:g.139649017C>T	ENSP00000303153:p.Ala1175Thr	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.A455T	p.A1175T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		48	3970	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1175			Pro-rich.|Gly-rich.|Collagen-like 11.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3523G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	6.521	0.464448	0.12402	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94330	-3.4;-3.4	4.86	1.96	0.26148	.	0.447039	0.18537	U	0.138320	D	0.86125	0.5858	L	0.31476	0.935	0.09310	N	0.999999	B;B	0.10296	0.001;0.003	B;B	0.11329	0.004;0.006	T	0.68273	-0.5452	10	0.11485	T	0.65	.	9.9964	0.41902	0.0:0.7425:0.0:0.2575	.	1155;1175	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	1175;1155;868	ENSP00000303153:A1175T;ENSP00000387655:A1155T	ENSP00000303153:A1175T	A	-	1	0	COL22A1	139718199	0.001000	0.12720	0.832000	0.32986	0.762000	0.43233	0.088000	0.14979	0.250000	0.21479	-1.128000	0.01989	GCA		0.393	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		33	162	0	0	0	0	33	162				
SPATC1	375686	broad.mit.edu	37	8	145095233	145095233	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:145095233A>T	ENST00000377470.3	+	2	737	c.635A>T	c.(634-636)aAc>aTc	p.N212I	SPATC1_ENST00000447830.2_Missense_Mutation_p.N212I	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	212						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCTCTCAGAACCTGCTGGCC	0.687																																						uc011lkw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(634-636)AAC>ATC		spermatogenesis and centriole associated 1							29.0	34.0	33.0					8																	145095233		2200	4294	6494	SO:0001583	missense	375686							g.chr8:145095233A>T	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.635A>T	8.37:g.145095233A>T	ENSP00000366690:p.Asn212Ile					SPATC1_uc011lkx.1_Missense_Mutation_p.N212I	p.N212I	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	737	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		212					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.635A>T	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294380	0.40594	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.52057	0.68;0.68	4.48	-0.653	0.11447	.	0.758817	0.12441	N	0.468651	T	0.61160	0.2325	M	0.69823	2.125	0.29614	N	0.846688	D;D	0.89917	1.0;0.99	D;P	0.91635	0.999;0.901	T	0.55617	-0.8113	10	0.42905	T	0.14	-28.0828	7.5076	0.27553	0.5956:0.0:0.4044:0.0	.	212;212	B4DWW9;Q76KD6	.;SPERI_HUMAN	I	212	ENSP00000366690:N212I;ENSP00000387613:N212I	ENSP00000366690:N212I	N	+	2	0	SPATC1	145167221	0.004000	0.15560	0.526000	0.27913	0.239000	0.25481	-0.115000	0.10741	-0.182000	0.10602	0.533000	0.62120	AAC		0.687	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		5	56	0	0	0	0	5	56				
TLN1	7094	broad.mit.edu	37	9	35707795	35707795	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:35707795T>A	ENST00000314888.9	-	35	4918	c.4565A>T	c.(4564-4566)aAg>aTg	p.K1522M	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.K1522M	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1522	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAACTGGCGCTTGGCAGTAGG	0.547																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4564-4566)AAG>ATG		talin 1							206.0	187.0	193.0					9																	35707795		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707795T>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4565A>T	9.37:g.35707795T>A	ENSP00000316029:p.Lys1522Met						p.K1522M	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		35	4919	-	all_epithelial(49;0.167)		1522			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4565A>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926497	0.92319	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.31769	1.48;1.48	5.62	5.62	0.85841	.	0.044725	0.85682	D	0.000000	T	0.56746	0.2006	M	0.83223	2.63	0.80722	D	1	D	0.67145	0.996	P	0.61328	0.887	T	0.64127	-0.6480	10	0.87932	D	0	-22.3527	15.806	0.78513	0.0:0.0:0.0:1.0	.	1522	Q9Y490	TLN1_HUMAN	M	1522	ENSP00000316029:K1522M;ENSP00000442981:K1522M	ENSP00000316029:K1522M	K	-	2	0	TLN1	35697795	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.273000	0.72581	2.142000	0.66516	0.459000	0.35465	AAG		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		73	132	0	0	0	0	73	132				
TRIM14	9830	broad.mit.edu	37	9	100862405	100862405	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:100862405G>A	ENST00000341469.2	-	3	354	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TRIM14_ENST00000342043.3_Silent_p.F115F|TRIM14_ENST00000375098.3_Silent_p.F115F	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	115					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				TGAGTTCAGTGAATTTCCCCT	0.438																																					Colon(14;460 597 13826 51781)	uc004ayd.2		NA																	0				central_nervous_system(1)	1						c.(343-345)TTC>TTT		tripartite motif protein TRIM14 isoform alpha							113.0	106.0	109.0					9																	100862405		2203	4300	6503	SO:0001819	synonymous_variant	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100862405G>A	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.345C>T	9.37:g.100862405G>A						TRIM14_uc004ayf.1_Silent_p.F22F|TRIM14_uc004ayg.1_Silent_p.F115F|TRIM14_uc004ayh.1_Silent_p.F115F|TRIM14_uc004ayi.1_Silent_p.F115F|TRIM14_uc004ayj.1_Silent_p.F22F	p.F115F	NM_033220	NP_150089	Q14142	TRI14_HUMAN			3	363	-		Acute lymphoblastic leukemia(62;0.0559)	115					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Silent	SNP	ENST00000341469.2	37	c.345C>T	CCDS6734.1																																																																																				0.438	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		14	71	0	0	0	0	14	71				
INVS	27130	broad.mit.edu	37	9	103046750	103046750	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:103046750C>T	ENST00000262457.2	+	13	2118	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	INVS_ENST00000541287.1_Missense_Mutation_p.P549S|INVS_ENST00000262456.2_Missense_Mutation_p.P645S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	645					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAAGCAGCCTCCTGCTGGCAA	0.652																																						uc004bap.1		NA																	0				ovary(2)	2						c.(1933-1935)CCT>TCT		inversin isoform a							29.0	32.0	31.0					9																	103046750		2203	4299	6502	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103046750C>T	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1933C>T	9.37:g.103046750C>T	ENSP00000262457:p.Pro645Ser					INVS_uc011lve.1_Missense_Mutation_p.P549S|INVS_uc004bao.1_Missense_Mutation_p.P645S|INVS_uc004baq.1_Missense_Mutation_p.P549S|INVS_uc004bar.1_Missense_Mutation_p.P549S|INVS_uc010mtb.1_Missense_Mutation_p.P319S	p.P645S	NM_014425	NP_055240	Q9Y283	INVS_HUMAN			13	2145	+		Acute lymphoblastic leukemia(62;0.056)	645					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.1933C>T	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	5.308	0.242192	0.10077	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.38722	1.12;1.13;1.21	5.74	1.43	0.22495	.	0.733186	0.14338	N	0.325892	T	0.25269	0.0614	L	0.32530	0.975	0.09310	N	1	B;B;B	0.13594	0.001;0.0;0.008	B;B;B	0.08055	0.002;0.001;0.003	T	0.18587	-1.0332	10	0.14252	T	0.57	.	5.7713	0.18255	0.0:0.5912:0.1466:0.2622	.	549;645;645	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	S	645;549;645	ENSP00000262457:P645S;ENSP00000444454:P549S;ENSP00000262456:P645S	ENSP00000262456:P645S	P	+	1	0	INVS	102086571	0.000000	0.05858	0.545000	0.28153	0.073000	0.16967	-0.028000	0.12350	0.794000	0.33899	-0.119000	0.15052	CCT		0.652	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		9	40	0	0	0	0	9	40				
SEC16A	9919	broad.mit.edu	37	9	139345823	139345823	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:139345823G>C	ENST00000371706.3	-	21	5696	c.5663C>G	c.(5662-5664)cCa>cGa	p.P1888R	SEC16A_ENST00000313050.7_Missense_Mutation_p.P2066R|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1888R|SEC16A_ENST00000398335.1_5'Flank|SEC16A_ENST00000313084.5_5'Flank|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1888R			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCCACCCTGGGGGGGCCTC	0.632																																						uc004chx.2		NA																	0					0						c.(6196-6198)CCA>CGA		SEC16 homolog A							35.0	36.0	36.0					9																	139345823		1913	4111	6024	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139345823G>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5663C>G	9.37:g.139345823G>C	ENSP00000360771:p.Pro1888Arg					SEC16A_uc004chr.2_5'Flank|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Missense_Mutation_p.P97R|SEC16A_uc004chu.2_Missense_Mutation_p.P251R|SEC16A_uc004chv.3_Missense_Mutation_p.P1456R|SEC16A_uc004chw.2_Missense_Mutation_p.P2066R|SEC16A_uc010nbn.2_Missense_Mutation_p.P2066R	p.P2066R	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	23	6506	-		Myeloproliferative disorder(178;0.0511)	1888			Pro-rich.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.6197C>G		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515543	0.44763	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T;T;T	0.42900	1.91;0.96;1.57;1.91;1.91;1.91	4.29	0.00435	0.14058	.	0.967381	0.08579	N	0.924859	T	0.45597	0.1350	M	0.63428	1.95	0.09310	N	1	P;P;B;B;B	0.52692	0.924;0.955;0.004;0.001;0.01	P;P;B;B;B	0.53954	0.484;0.738;0.012;0.001;0.005	T	0.36578	-0.9742	10	0.45353	T	0.12	0.3367	0.8915	0.01255	0.2219:0.1801:0.4136:0.1844	.	2066;1888;1888;1456;1888	F1T0I1;O15027-5;O15027-4;A4QN19;O15027	.;.;.;.;SC16A_HUMAN	R	2066;460;788;1888;1888;1888;1456;424	ENSP00000325827:P2066R;ENSP00000277537:P460R;ENSP00000403525:P788R;ENSP00000360771:P1888R;ENSP00000290037:P1888R;ENSP00000387583:P1888R	ENSP00000277537:P460R	P	-	2	0	SEC16A	138465644	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.049000	0.11924	0.396000	0.25283	0.655000	0.94253	CCA		0.632	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		3	23	0	0	0	0	3	23				
KIAA1210	57481	broad.mit.edu	37	X	118221839	118221839	+	Silent	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chrX:118221839C>A	ENST00000402510.2	-	11	3353	c.3354G>T	c.(3352-3354)ctG>ctT	p.L1118L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1118										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTCTGGGAAGCAGCTGCTCCT	0.488																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(3352-3354)CTG>CTT		hypothetical protein LOC57481							128.0	123.0	125.0					X																	118221839		1915	4121	6036	SO:0001819	synonymous_variant	57481							g.chrX:118221839C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3354G>T	X.37:g.118221839C>A							p.L1118L	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	3354	-			1118					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.3354G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	1.530	-0.544512	0.04024	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.31	2.55	0.30701	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20505	-1.0273	4	.	.	.	.	5.9525	0.19255	0.0:0.7615:0.0:0.2385	.	.	.	.	S	525	.	.	A	-	1	0	KIAA1210	118105867	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.867000	0.27968	0.579000	0.29504	-0.208000	0.12717	GCT		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		6	77	1	0	0.00116845	0.0013065	6	77				
ALDH1L2	160428	broad.mit.edu	37	12	105434423	105434423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:105434423delC	ENST00000258494.9	-	16	2053	c.1913delG	c.(1912-1914)ggcfs	p.G638fs	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	638	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTTTGGAAAGCCTGCTTTCAC	0.483																																						uc001tlc.2		NA																	0				skin(1)	1						c.(1912-1914)GGCfs		aldehyde dehydrogenase 1 family, member L2							322.0	317.0	319.0					12																	105434423		2203	4300	6503	SO:0001589	frameshift_variant	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105434423delC	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1913delG	12.37:g.105434423delC	ENSP00000258494:p.Gly638fs					ALDH1L2_uc009zuo.2_Frame_Shift_Del_p.G93fs|ALDH1L2_uc009zup.2_RNA	p.G638fs	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			16	2040	-			638			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Frame_Shift_Del	DEL	ENST00000258494.9	37	c.1913delG	CCDS31891.1																																																																																				0.483	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		36	420	NA	NA	NA	NA	36	420	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53889325	53889325	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:53889325delC	ENST00000396328.1	-	18	3338	c.3099delG	c.(3097-3099)tggfs	p.W1033fs	WDR72_ENST00000559418.1_Frame_Shift_Del_p.W1043fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.W1030fs|WDR72_ENST00000360509.5_Frame_Shift_Del_p.W1033fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1033										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)		GTTCTTCTGTCCATTCCAGCT	0.393																																						uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(3097-3099)TGGfs		WD repeat domain 72							280.0	242.0	255.0					15																	53889325		2194	4293	6487	SO:0001589	frameshift_variant	256764							g.chr15:53889325delC	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.3099delG	15.37:g.53889325delC	ENSP00000379619:p.Trp1033fs						p.W1033fs	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3141	-			1033					Q7Z3I3|Q8N8X2	Frame_Shift_Del	DEL	ENST00000396328.1	37	c.3099delG	CCDS10151.1																																																																																				0.393	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		40	231	NA	NA	NA	NA	40	231	---	---	---	---
ZNF132	7691	broad.mit.edu	37	19	58945525	58945526	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:58945525_58945526insT	ENST00000254166.3	-	3	1685_1686	c.1285_1286insA	c.(1285-1287)agafs	p.R429fs		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	429					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(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCATACGGTCTTTCTCCAGTG	0.465																																						uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1285-1287)AGAfs		zinc finger protein 132																																				SO:0001589	frameshift_variant	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945525_58945526insT	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1286dupA	19.37:g.58945528_58945528dupT	ENSP00000254166:p.Arg429fs						p.R429fs	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1686_1687	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	429					Q32MI9	Frame_Shift_Ins	INS	ENST00000254166.3	37	c.1285_1286insA	CCDS12980.1																																																																																				0.465	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		9	95	NA	NA	NA	NA	9	95	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35689036	35689037	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr22:35689036_35689037delTG	ENST00000216106.5	+	10	1818_1819	c.1690_1691delTG	c.(1690-1692)tgtfs	p.C564fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.C455fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	564					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATTATCTGTGCCCTTGGC	0.49																																						uc003anl.2		NA																	0				breast(1)|skin(1)	2						c.(1690-1692)TGTfs		high-mobility group protein 2-like 1																																				SO:0001589	frameshift_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35689036_35689037delTG	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1690_1691delTG	22.37:g.35689038_35689039delTG	ENSP00000216106:p.Cys564fs					HMGXB4_uc003ank.2_Frame_Shift_Del_p.C455fs	p.C564fs	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN			10	1864_1865	+			564					O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	c.1690_1691delTG	CCDS33641.1																																																																																				0.490	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		12	76	NA	NA	NA	NA	12	76	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1363354	1363355	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:1363354_1363355insGA	ENST00000446702.2	+	8	1409_1410	c.782_783insGA	c.(781-786)tggagafs	p.WR261fs	CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.WR189fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.WR261fs			Q9UQ52	CNTN6_HUMAN	contactin 6	261	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATATTAGTTGGAGAAGGTTGG	0.416																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(781-783)TGGfs		contactin 6 precursor																																				SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363354_1363355insGA	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.785_786dupGA	3.37:g.1363357_1363358dupGA	ENSP00000407822:p.Trp261fs					CNTN6_uc011asj.1_Frame_Shift_Ins_p.W189fs|CNTN6_uc003bpa.2_Frame_Shift_Ins_p.W261fs	p.W261fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1049_1050	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	261			Ig-like C2-type 3.		Q2KHM2	Frame_Shift_Ins	INS	ENST00000446702.2	37	c.782_783insGA	CCDS2557.1																																																																																				0.416	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		20	124	NA	NA	NA	NA	20	124	---	---	---	---
