#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ANKRD20A5P	440482	broad.mit.edu	37	18	14179589	14179589	+	RNA	SNP	C	C	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr18:14179589C>A	ENST00000581935.1	+	0	494							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						CCTGGACAAGCAGCACAGGTA	0.697																																						ENST00000581935.1																			0				lung(3)	3															13.0	12.0	12.0					18																	14179589		2152	4103	6255			0							g.chr18:14179589C>A	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14179589C>A														0	494	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.697	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			7	25	1	0	1.04858e-14	1	1.10049e-14	7	25				
TIGD3	220359	broad.mit.edu	37	11	65124210	65124210	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:65124210C>T	ENST00000309880.5	+	2	1138	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	311	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TTACCGACACCGGCTGTTGGG	0.667																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(931-933)Cgg>Tgg		tigger transposable element derived 3							20.0	24.0	22.0					11																	65124210		2196	4285	6481	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124210C>T		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.931C>T	11.37:g.65124210C>T	ENSP00000308354:p.Arg311Trp						p.R311W	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	1138	+			311			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.931C>T	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079390	0.36662	.	.	ENSG00000173825	ENST00000309880	T	0.44482	0.92	3.42	3.42	0.39159	.	.	.	.	.	T	0.59729	0.2215	M	0.70275	2.135	0.33031	D	0.53017	D	0.89917	1.0	D	0.83275	0.996	T	0.66228	-0.5976	9	0.37606	T	0.19	-10.0499	10.6142	0.45441	0.0:1.0:0.0:0.0	.	311	Q6B0B8	TIGD3_HUMAN	W	311	ENSP00000308354:R311W	ENSP00000308354:R311W	R	+	1	2	TIGD3	64880786	0.981000	0.34729	0.907000	0.35723	0.290000	0.27261	2.982000	0.49337	1.955000	0.56771	0.456000	0.33151	CGG		0.667	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		5	71	0	0	0	1	0	5	71				
RADIL	55698	broad.mit.edu	37	7	4874838	4874838	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:4874838C>T	ENST00000399583.3	-	4	1003	c.816G>A	c.(814-816)cgG>cgA	p.R272R	RADIL_ENST00000538469.1_Silent_p.R32R|RADIL_ENST00000536091.1_Silent_p.R272R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	272					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCACCGTGTGCCGGTCCCGGT	0.652																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(814-816)cgG>cgA		Ras association and DIL domains							18.0	25.0	23.0					7																	4874838		2177	4262	6439	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874838C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.816G>A	7.37:g.4874838C>T						RADIL_ENST00000536091.1_Silent_p.R272R|RADIL_ENST00000538469.1_Silent_p.R32R	p.R272R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1003	-		Ovarian(82;0.0175)	272					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.816G>A	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.57|18.57	3.652110|3.652110	0.67472|0.67472	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000316919|ENST00000544486	.|.	.|.	.|.	4.75|4.75	3.86|3.86	0.44501|0.44501	.|.	.|.	.|.	.|.	.|.	T|T	0.70168|0.70168	0.3193|0.3193	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70684|0.70684	-0.4804|-0.4804	5|5	0.02654|0.49607	T|T	1|0.09	-2.0556|-2.0556	12.3419|12.3419	0.55099|0.55099	0.0:0.83:0.17:0.0|0.0:0.83:0.17:0.0	.|.	.|.	.|.	.|.	T|D	245|7	.|.	ENSP00000320946:A245T|ENSP00000437686:G7D	A|G	-|-	1|2	0|0	RADIL|RADIL	4841364|4841364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.372000|4.372000	0.59530|0.59530	0.970000|0.970000	0.38263|0.38263	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.652	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	29	0	0	0	1	0	3	29				
HOXA1	3198	broad.mit.edu	37	7	27134078	27134078	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:27134078G>A	ENST00000343060.4	-	2	1050	c.989C>T	c.(988-990)aCt>aTt	p.T330I	HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	330					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGTAGTCAGAGTGTCTGAGGT	0.597																																						ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(988-990)aCt>aTt		homeobox A1							46.0	49.0	48.0					7																	27134078		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134078G>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.989C>T	7.37:g.27134078G>A	ENSP00000343246:p.Thr330Ile					HOXA1_ENST00000355633.5_3'UTR	p.T330I	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			2	1050	-			330					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.989C>T	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000444	0.54147	.	.	ENSG00000105991	ENST00000343060	D	0.90563	-2.69	5.31	5.31	0.75309	.	0.355002	0.33127	N	0.005256	D	0.84951	0.5586	L	0.44542	1.39	0.80722	D	1	P	0.50943	0.94	B	0.35413	0.202	D	0.87018	0.2127	10	0.59425	D	0.04	.	13.8923	0.63747	0.0:0.0:0.8477:0.1523	.	330	P49639	HXA1_HUMAN	I	330	ENSP00000343246:T330I	ENSP00000343246:T330I	T	-	2	0	HOXA1	27100603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.242000	0.51384	2.495000	0.84180	0.655000	0.94253	ACT		0.597	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			38	57	0	0	0	1	0	38	57				
FSCB	84075	broad.mit.edu	37	14	44973903	44973903	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr14:44973903G>A	ENST00000340446.4	-	1	2579	c.2288C>T	c.(2287-2289)cCg>cTg	p.P763L	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	763						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCCACCTGCGGTGACTGAAA	0.433																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2287-2289)cCg>cTg		fibrous sheath CABYR binding protein							73.0	79.0	77.0					14																	44973903		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44973903G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2288C>T	14.37:g.44973903G>A	ENSP00000344579:p.Pro763Leu						p.P763L	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2579	-			763					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2288C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490672	0.44249	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13778	2.56	4.53	-1.6	0.08426	.	.	.	.	.	T	0.08179	0.0204	L	0.50333	1.59	0.09310	N	1	P	0.36125	0.538	B	0.21360	0.034	T	0.28459	-1.0043	9	0.66056	D	0.02	2.8455	0.9947	0.01464	0.2995:0.1524:0.3924:0.1556	.	763	Q5H9T9	FSCB_HUMAN	L	763;656	ENSP00000344579:P763L	ENSP00000344579:P763L	P	-	2	0	FSCB	44043653	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.401000	0.07232	-0.176000	0.10707	0.484000	0.47621	CCG		0.433	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		33	192	0	0	0	1	0	33	192				
LPAR4	2846	broad.mit.edu	37	X	78011462	78011462	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:78011462C>T	ENST00000435339.3	+	2	1482	c.1096C>T	c.(1096-1098)Cta>Tta	p.L366L		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	366					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGAATTAATGCTAGAATCCAC	0.363																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1096-1098)Cta>Tta		lysophosphatidic acid receptor 4							75.0	71.0	72.0					X																	78011462		2199	4294	6493	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011462C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.1096C>T	X.37:g.78011462C>T						LPAR4_ENST00000373301.2_Silent_p.L366L	p.L366L	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	1501	+			366					B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.1096C>T	CCDS14441.1																																																																																				0.363	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		8	123	0	0	0	1	0	8	123				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	26	0	0	0	1	0	4	26				
CXorf58	254158	broad.mit.edu	37	X	23953455	23953455	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:23953455G>A	ENST00000379211.3	+	7	1247	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	233										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATCTCAAACCGTCTACGAAAT	0.373																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(697-699)cGt>cAt		chromosome X open reading frame 58							87.0	78.0	81.0					X																	23953455		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23953455G>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.698G>A	X.37:g.23953455G>A	ENSP00000368511:p.Arg233His						p.R233H	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			7	1247	+			233						Missense_Mutation	SNP	ENST00000379211.3	37	c.698G>A	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.413027	0.83449	.	.	ENSG00000165182	ENST00000379211	T	0.42900	0.96	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000003	T	0.65238	0.2672	M	0.68952	2.095	0.36445	D	0.865733	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71563	-0.4555	10	0.72032	D	0.01	-7.3026	18.1905	0.89805	0.0:0.0:1.0:0.0	.	233;233	B7ZLS7;Q96LI9	.;CX058_HUMAN	H	233	ENSP00000368511:R233H	ENSP00000368511:R233H	R	+	2	0	CXorf58	23863376	1.000000	0.71417	0.498000	0.27564	0.744000	0.42396	5.788000	0.69020	2.574000	0.86865	0.540000	0.68198	CGT		0.373	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		7	199	0	0	0	1	0	7	199				
NAP1L2	4674	broad.mit.edu	37	X	72433893	72433893	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:72433893G>A	ENST00000373517.3	-	1	791	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.P4S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	146					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCAGTAAGGGTTGGTACATT	0.383																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(436-438)Ccc>Tcc		nucleosome assembly protein 1-like 2							169.0	161.0	164.0					X																	72433893		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433893G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.436C>T	X.37:g.72433893G>A	ENSP00000362616:p.Pro146Ser					NAP1L2_ENST00000536638.1_Missense_Mutation_p.P4S	p.P146S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	791	-	Renal(35;0.156)		146					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.436C>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.746033	0.49151	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.55588	0.51;0.51	3.31	3.31	0.37934	.	0.000000	0.85682	U	0.000000	T	0.71837	0.3387	M	0.86268	2.805	0.43279	D	0.995249	D	0.76494	0.999	D	0.69824	0.966	T	0.76809	-0.2822	10	0.66056	D	0.02	-0.2134	11.7224	0.51689	0.0:0.0:1.0:0.0	.	146	Q9ULW6	NP1L2_HUMAN	S	146;4	ENSP00000362616:P146S;ENSP00000441555:P4S	ENSP00000362616:P146S	P	-	1	0	NAP1L2	72350618	1.000000	0.71417	0.974000	0.42286	0.686000	0.39977	6.822000	0.75277	1.903000	0.55091	0.600000	0.82982	CCC		0.383	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		102	182	0	0	0	1	0	102	182				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	39	0	0	0	1	0	3	39				
NUDT11	55190	broad.mit.edu	37	X	51239216	51239216	+	Silent	SNP	G	G	A	rs200589562		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:51239216G>A	ENST00000375992.3	-	1	232	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	27	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCTCGCGTTCGCTCCGGAAGC	0.682										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(79-81)agC>agT		nudix (nucleoside diphosphate linked moiety X)-type motif 11		G		1,3833		0,1,1631,570	25.0	24.0	24.0		81	2.0	1.0	X		24	0,6727		0,0,2428,1871	no	coding-synonymous	NUDT11	NM_018159.3		0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095		27/165	51239216	1,10560	2202	4299	6501	SO:0001819	synonymous_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239216G>A	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.81C>T	X.37:g.51239216G>A		HNSCC(48;0.14)					p.S27S	NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			1	232	-	Ovarian(276;0.236)		27			Nudix hydrolase.		Q9NVN0	Silent	SNP	ENST00000375992.3	37	c.81C>T	CCDS43952.1																																																																																				0.682	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			19	32	0	0	0	1	0	19	32				
HECTD2	143279	broad.mit.edu	37	10	93247529	93247529	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:93247529C>T	ENST00000298068.5	+	11	1279	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	HECTD2_ENST00000371667.1_Silent_p.I45I|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000446394.1_Silent_p.I399I|HECTD2_ENST00000536715.1_Intron	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	395					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I395I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGATAAACATCGCAAGGGTAA	0.313																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			1	Substitution - coding silent(1)	p.I395I(1)	lung(1)	breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(1195-1197)atC>atT		HECT domain containing E3 ubiquitin protein ligase 2							87.0	88.0	87.0					10																	93247529		2203	4298	6501	SO:0001819	synonymous_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93247529C>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1185C>T	10.37:g.93247529C>T						HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Silent_p.I45I|HECTD2_ENST00000298068.5_Silent_p.I395I|HECTD2_ENST00000536715.1_Intron	p.I399I			Q5U5R9	HECD2_HUMAN			12	1297	+			395					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	ENST00000298068.5	37	c.1197C>T	CCDS7414.1																																																																																				0.313	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			25	151	0	0	0	1	0	25	151				
DST	667	broad.mit.edu	37	6	56382032	56382032	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr6:56382032C>T	ENST00000361203.3	-	66	17368	c.17361G>A	c.(17359-17361)atG>atA	p.M5787I	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.M5898I|DST_ENST00000244364.6_Missense_Mutation_p.M3484I|DST_ENST00000370754.5_Missense_Mutation_p.M6076I|DST_ENST00000421834.2_Missense_Mutation_p.M3810I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.M5572I|DST_ENST00000370788.2_Missense_Mutation_p.M3701I			Q03001	DYST_HUMAN	dystonin	5787					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCATGCGGTCATGATTTTAT	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18226-18228)atG>atA		dystonin							206.0	202.0	203.0					6																	56382032		1946	4146	6092	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56382032C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17361G>A	6.37:g.56382032C>T	ENSP00000354508:p.Met5787Ile					DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.M5572I|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.M3810I|DST_ENST00000244364.6_Missense_Mutation_p.M3484I|DST_ENST00000370769.4_Missense_Mutation_p.M5898I|DST_ENST00000370788.2_Missense_Mutation_p.M3701I|DST_ENST00000361203.3_Missense_Mutation_p.M5787I	p.M6076I			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		71	18227	-	Lung NSC(77;0.103)		5896					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.18228G>A		.	.	.	.	.	.	.	.	.	.	C	16.39	3.110111	0.56398	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.45	5.45	0.79879	.	0.089115	0.48286	D	0.000190	T	0.41213	0.1149	M	0.64997	1.995	0.30915	N	0.728646	D;D;D;B;P	0.71674	0.98;0.998;0.995;0.166;0.567	D;D;D;B;P	0.77004	0.985;0.977;0.989;0.138;0.561	T	0.11916	-1.0568	9	0.09843	T	0.71	.	19.6409	0.95757	0.0:1.0:0.0:0.0	.	3810;5898;6076;5896;3484	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	3484;6076;5898;3810;5572;3701;5787	ENSP00000244364:M3484I;ENSP00000359790:M6076I;ENSP00000359805:M5898I;ENSP00000400883:M3810I;ENSP00000393645:M5572I;ENSP00000359824:M3701I;ENSP00000354508:M5787I	ENSP00000244364:M3484I	M	-	3	0	DST	56489991	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.050000	0.71063	2.711000	0.92665	0.655000	0.94253	ATG		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		80	178	0	0	0	1	0	80	178				
TENM3	55714	broad.mit.edu	37	4	183713841	183713841	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:183713841C>T	ENST00000511685.1	+	26	6139	c.6016C>T	c.(6016-6018)Cgc>Tgc	p.R2006C	TENM3_ENST00000406950.2_Missense_Mutation_p.R2006C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2006					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCAGATTTTCCGCTTTAGTGA	0.438																																						ENST00000511685.1																			0											c.(6016-6018)Cgc>Tgc		teneurin transmembrane protein 3							279.0	270.0	273.0					4																	183713841		1964	4155	6119	SO:0001583	missense	55714							g.chr4:183713841C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6016C>T	4.37:g.183713841C>T	ENSP00000424226:p.Arg2006Cys					TENM3_ENST00000406950.2_Missense_Mutation_p.R2006C	p.R2006C							26	6139	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6016C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919868	0.73098	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87334	-2.24;-2.24	4.83	4.83	0.62350	.	.	.	.	.	D	0.93501	0.7926	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93446	0.6798	9	0.51188	T	0.08	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	2006	Q9P273	TEN3_HUMAN	C	2006	ENSP00000424226:R2006C;ENSP00000385276:R2006C	ENSP00000385276:R2006C	R	+	1	0	ODZ3	183950835	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.583000	0.82559	2.655000	0.90218	0.655000	0.94253	CGC		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			37	378	0	0	0	1	0	37	378				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	164	0	0	0	1	0	4	164				
MUC17	140453	broad.mit.edu	37	7	100681328	100681328	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:100681328C>T	ENST00000306151.4	+	3	6695	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2211	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6631-6633)Cca>Tca		mucin 17, cell surface associated							336.0	330.0	332.0					7																	100681328		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681328C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6631C>T	7.37:g.100681328C>T	ENSP00000302716:p.Pro2211Ser						p.P2211S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6695	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2211			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6631C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.528	-0.545133	0.04024	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.762	-1.52	0.08637	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.33494	0.414	B	0.22386	0.039	T	0.43410	-0.9393	9	0.07813	T	0.8	.	2.1715	0.03850	0.3232:0.3518:0.325:0.0	.	2211	Q685J3	MUC17_HUMAN	S	2211	ENSP00000302716:P2211S	ENSP00000302716:P2211S	P	+	1	0	MUC17	100468048	0.000000	0.05858	0.032000	0.17829	0.032000	0.12392	-4.524000	0.00221	0.132000	0.18615	0.134000	0.15878	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	814	0	0	0	1	0	7	814				
LRRC14B	389257	broad.mit.edu	37	5	195061	195061	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:195061C>G	ENST00000328278.3	+	2	1166	c.1138C>G	c.(1138-1140)Ctg>Gtg	p.L380V	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	380										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CGTTGGCATGCTGATCCTGGG	0.667																																						ENST00000328278.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						c.(1138-1140)Ctg>Gtg		leucine rich repeat containing 14B							20.0	25.0	23.0					5																	195061		2123	4236	6359	SO:0001583	missense	389257							g.chr5:195061C>G		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1138C>G	5.37:g.195061C>G	ENSP00000327675:p.Leu380Val						p.L380V	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN			2	1166	+			380						Missense_Mutation	SNP	ENST00000328278.3	37	c.1138C>G	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	6.665	0.491330	0.12702	.	.	ENSG00000185028	ENST00000328278	T	0.65549	-0.16	5.65	-2.88	0.05682	.	0.486643	0.25514	N	0.030141	T	0.46502	0.1396	L	0.46614	1.455	0.09310	N	0.999999	B	0.12630	0.006	B	0.16289	0.015	T	0.39057	-0.9632	10	0.62326	D	0.03	.	6.0109	0.19575	0.6504:0.1874:0.0858:0.0764	.	380	A6NHZ5	LR14B_HUMAN	V	380	ENSP00000327675:L380V	ENSP00000327675:L380V	L	+	1	2	LRRC14B	248061	0.389000	0.25205	0.002000	0.10522	0.061000	0.15899	-0.226000	0.09139	-0.303000	0.08856	-0.310000	0.09108	CTG		0.667	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		8	26	0	0	0	1	0	8	26				
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000441564.3_Silent_p.D82D|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(244-246)gaC>gaT		pleckstrin and Sec7 domain containing 4		T		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	52.0		246	-1.1	0.0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940279C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T						PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.D82D	p.D82D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	441	+			82					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.246C>T	CCDS33276.1																																																																																				0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		4	55	0	0	0	1	0	4	55				
CLASP1	23332	broad.mit.edu	37	2	122125380	122125380	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:122125380G>A	ENST00000263710.4	-	35	4059	c.3670C>T	c.(3670-3672)Cct>Tct	p.P1224S	CLASP1_ENST00000541859.1_Missense_Mutation_p.P941S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P1163S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P1180S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P1157S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P931S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P1164S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1224					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCAGTGGCAGGGGAGGCAGCG	0.582																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3670-3672)Cct>Tct		cytoplasmic linker associated protein 1							56.0	58.0	57.0					2																	122125380		1975	4151	6126	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122125380G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3670C>T	2.37:g.122125380G>A	ENSP00000263710:p.Pro1224Ser					CLASP1_ENST00000397587.3_Missense_Mutation_p.P1164S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P1163S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P1180S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P941S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P931S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P1157S	p.P1224S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			35	4059	-	Renal(3;0.0496)		1224					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3670C>T		.	.	.	.	.	.	.	.	.	.	G	9.951	1.220240	0.22457	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.43294	2.25;2.28;2.28;2.28;0.95;2.28	5.88	5.88	0.94601	Armadillo-type fold (1);	0.154369	0.64402	D	0.000016	T	0.43656	0.1257	L	0.54323	1.7	0.58432	D	0.999997	B;B;B;B	0.25609	0.087;0.041;0.024;0.13	B;B;B;B	0.25759	0.03;0.016;0.007;0.063	T	0.18304	-1.0341	10	0.30078	T	0.28	-4.1642	20.2207	0.98324	0.0:0.0:1.0:0.0	.	1157;1164;1165;1224	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	S	1224;1180;1164;1163;941;1157;931	ENSP00000263710:P1224S;ENSP00000389372:P1180S;ENSP00000380717:P1164S;ENSP00000441625:P1163S;ENSP00000441770:P941S;ENSP00000386442:P1157S	ENSP00000263710:P1224S	P	-	1	0	CLASP1	121841850	1.000000	0.71417	0.061000	0.19648	0.205000	0.24178	7.677000	0.84024	2.790000	0.95986	0.591000	0.81541	CCT		0.582	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		38	57	0	0	0	1	0	38	57				
PKP2	5318	broad.mit.edu	37	12	33031009	33031009	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:33031009C>T	ENST00000070846.6	-	3	829	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	PKP2_ENST00000340811.4_Missense_Mutation_p.G269R	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	269					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGACCTGCCCGACAGTGAGC	0.662																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(805-807)Ggg>Agg		plakophilin 2							47.0	43.0	45.0					12																	33031009		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031009C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.805G>A	12.37:g.33031009C>T	ENSP00000070846:p.Gly269Arg					PKP2_ENST00000070846.6_Missense_Mutation_p.G269R	p.G269R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	913	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		269					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.805G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631103	0.28978	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.81415	-1.49;-1.43	5.32	4.42	0.53409	.	3.833190	0.00567	N	0.000284	T	0.72645	0.3486	L	0.34521	1.04	0.30311	N	0.788516	P;P;P	0.41710	0.76;0.647;0.647	B;B;B	0.29663	0.105;0.048;0.07	T	0.66905	-0.5805	10	0.54805	T	0.06	-2.5906	12.2912	0.54819	0.0:0.9184:0.0:0.0816	.	269;269;269	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	R	269	ENSP00000342800:G269R;ENSP00000070846:G269R	ENSP00000070846:G269R	G	-	1	0	PKP2	32922276	0.995000	0.38212	0.889000	0.34880	0.250000	0.25880	2.739000	0.47409	2.485000	0.83878	0.650000	0.86243	GGG		0.662	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		10	59	0	0	0	1	0	10	59				
IDH2	3418	broad.mit.edu	37	15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:90631839T>C	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G|IDH2_ENST00000540499.2_Missense_Mutation_p.R120G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		14	Substitution - Missense(14)	p.R172W(12)|p.R172G(2)	central_nervous_system(9)|biliary_tract(5)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)Agg>Ggg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							86.0	81.0	83.0					15																	90631839		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631839T>C		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.514A>G	15.37:g.90631839T>C	ENSP00000331897:p.Arg172Gly					IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G	p.R172G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	627	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.514A>G	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210612	0.39102	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86956	-2.19;-2.19;-2.19	5.93	0.717	0.18196	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	H	0.98487	4.245	0.51767	D	0.999936	D	0.89917	1.0	D	0.97110	1.0	D	0.95508	0.8583	10	0.87932	D	0	.	13.7144	0.62687	0.0:0.0:0.4915:0.5085	.	172	P48735	IDHP_HUMAN	G	172;42;120	ENSP00000331897:R172G;ENSP00000438457:R42G;ENSP00000446147:R120G	ENSP00000331897:R172G	R	-	1	2	IDH2	88432843	1.000000	0.71417	0.032000	0.17829	0.002000	0.02628	1.525000	0.35953	-0.113000	0.11958	-0.466000	0.05196	AGG		0.627	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			45	78	0	0	0	1	0	45	78				
SV2C	22987	broad.mit.edu	37	5	75505623	75505623	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:75505623G>A	ENST00000502798.2	+	4	1266	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	SV2C_ENST00000322285.7_Missense_Mutation_p.R275Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	275					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGGAAAAGCGGGGCGAACAC	0.557																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(823-825)cGg>cAg		synaptic vesicle glycoprotein 2C							94.0	98.0	96.0					5																	75505623		2193	4298	6491	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75505623G>A	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.824G>A	5.37:g.75505623G>A	ENSP00000423541:p.Arg275Gln					SV2C_ENST00000322285.7_Missense_Mutation_p.R275Q	p.R275Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	4	1266	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	275					Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.824G>A	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.735417	0.96865	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	D;D	0.81996	-1.56;-1.56	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94023	0.8085	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95743	0.8785	10	0.87932	D	0	-20.6229	18.2536	0.90012	0.0:0.0:1.0:0.0	.	275	Q496J9	SV2C_HUMAN	Q	275	ENSP00000423541:R275Q;ENSP00000316983:R275Q	ENSP00000316983:R275Q	R	+	2	0	SV2C	75541379	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.695000	0.98691	2.392000	0.81423	0.591000	0.81541	CGG		0.557	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			4	102	0	0	0	1	0	4	102				
AKR1CL1	340811	broad.mit.edu	37	10	5204929	5204929	+	Missense_Mutation	SNP	G	G	A	rs150568767	byFrequency	TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:5204929G>A	ENST00000334314.3	-	2	224	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	50			R -> H (in dbSNP:rs7097295).			cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCAATATGGCGGAAGCCTACG	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		17489	0.0		0.0	False		,,,				2504	0.002				Ovarian(129;1623 1737 25446 28757 47467)	ENST00000334314.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(148-150)Cgc>Tgc		aldo-keto reductase family 1, member C-like 1		G		0,4406		0,0,2203	121.0	116.0	118.0			1.4	0.0	10	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			5204929	1,13005	2203	4300	6503	SO:0001583	missense	340811							g.chr10:5204929G>A			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.148C>T	10.37:g.5204929G>A	ENSP00000334626:p.Arg50Cys						p.R50C							2	224	-								A6NF66|Q6ZN81	Missense_Mutation	SNP	ENST00000334314.3	37	c.148C>T		.	.	.	.	.	.	.	.	.	.	G	10.94	1.492033	0.26774	0.0	1.16E-4	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.28666	1.6;1.6	3.33	1.39	0.22231	.	0.130363	0.32836	U	0.005583	T	0.32071	0.0817	.	.	.	0.23174	N	0.998174	.	.	.	.	.	.	T	0.17653	-1.0362	7	0.72032	D	0.01	.	7.7236	0.28746	0.2269:0.0:0.7731:0.0	.	.	.	.	C	50	ENSP00000417935:R50C;ENSP00000334626:R50C	ENSP00000334626:R50C	R	-	1	0	AKR1CL1	5194929	1.000000	0.71417	0.000000	0.03702	0.073000	0.16967	2.766000	0.47629	0.078000	0.16900	-0.680000	0.03767	CGC		0.468	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916		68	147	0	0	0	1	0	68	147				
CCNE1	898	broad.mit.edu	37	19	30313174	30313174	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:30313174G>A	ENST00000262643.3	+	10	1147	c.868G>A	c.(868-870)Gac>Aac	p.D290N	CCNE1_ENST00000357943.5_Missense_Mutation_p.D247N|CCNE1_ENST00000444983.2_Missense_Mutation_p.D275N	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	290					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCTGGATGTTGACTGCCTTGA	0.463			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(868-870)Gac>Aac		cyclin E1							349.0	278.0	302.0					19																	30313174		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313174G>A	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.868G>A	19.37:g.30313174G>A	ENSP00000262643:p.Asp290Asn					CCNE1_ENST00000357943.5_Missense_Mutation_p.D247N|CCNE1_ENST00000444983.2_Missense_Mutation_p.D275N	p.D290N	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		10	1147	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		290					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.868G>A	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320269	0.23994	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.23147	1.92;1.92;1.92	6.17	6.17	0.99709	Cyclin, C-terminal (1);Cyclin-like (1);	0.251992	0.48286	D	0.000198	T	0.14056	0.0340	N	0.08118	0	0.30141	N	0.803942	B	0.21452	0.056	B	0.20577	0.03	T	0.11324	-1.0592	10	0.15952	T	0.53	.	14.6754	0.68975	0.0:0.0:0.8551:0.1449	.	290	P24864	CCNE1_HUMAN	N	290;247;275	ENSP00000262643:D290N;ENSP00000350625:D247N;ENSP00000410179:D275N	ENSP00000262643:D290N	D	+	1	0	CCNE1	35005014	1.000000	0.71417	0.909000	0.35828	0.144000	0.21451	3.561000	0.53770	2.941000	0.99782	0.655000	0.94253	GAC		0.463	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		5	160	0	0	0	1	0	5	160				
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:102292820G>C	ENST00000561463.1	+	0	866									DNM1 pseudogene 47									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592																																						ENST00000561463.1																			2	Substitution - coding silent(2)	p.T136T(2)	kidney(2)																																																0							g.chr15:102292820G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292820G>C														0	866	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	53	0	0	0	1	0	4	53				
AHNAK2	113146	broad.mit.edu	37	14	105408233	105408233	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr14:105408233C>T	ENST00000333244.5	-	7	13674	c.13555G>A	c.(13555-13557)Gac>Aac	p.D4519N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCAGGTCGGCGGAAGGG	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13555-13557)Gac>Aac		AHNAK nucleoprotein 2							103.0	113.0	109.0					14																	105408233		1961	4143	6104	SO:0001583	missense	113146					nucleus		g.chr14:105408233C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13555G>A	14.37:g.105408233C>T	ENSP00000353114:p.Asp4519Asn					AHNAK2_ENST00000557457.1_Intron	p.D4519N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13674	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4519					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13555G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715502	0.68844	.	.	ENSG00000185567	ENST00000333244	T	0.01203	5.18	3.66	3.66	0.41972	.	.	.	.	.	T	0.08133	0.0203	M	0.89715	3.055	0.40455	D	0.980181	D	0.76494	0.999	D	0.68943	0.961	T	0.27536	-1.0071	9	0.35671	T	0.21	-8.237	15.4462	0.75232	0.0:1.0:0.0:0.0	.	4519	Q8IVF2	AHNK2_HUMAN	N	4519	ENSP00000353114:D4519N	ENSP00000353114:D4519N	D	-	1	0	AHNAK2	104479278	0.014000	0.17966	0.007000	0.13788	0.005000	0.04900	0.180000	0.16860	1.591000	0.50007	0.306000	0.20318	GAC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	323	0	0	0	1	0	6	323				
CENPBD1	92806	broad.mit.edu	37	16	90038172	90038172	+	Silent	SNP	T	T	C	rs370787484		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr16:90038172T>C	ENST00000314994.3	-	1	770	c.159A>G	c.(157-159)acA>acG	p.T53T	RP11-566K11.5_ENST00000565150.1_RNA|AFG3L1P_ENST00000437774.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	53	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						TGGTCGCCACTGTAGAGATAG	0.463																																						ENST00000314994.3																			0				endometrium(1)|lung(2)	3						c.(157-159)acA>acG		CENPB DNA-binding domains containing 1		T		1,4281		0,1,2140	42.0	47.0	46.0		159	-4.0	0.0	16		46	0,8520		0,0,4260	no	coding-synonymous	CENPBD1	NM_145039.3		0,1,6400	CC,CT,TT		0.0,0.0234,0.0078		53/188	90038172	1,12801	2141	4260	6401	SO:0001819	synonymous_variant	92806				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:90038172T>C	AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.159A>G	16.37:g.90038172T>C						RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	p.T53T	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN			1	770	-			53			HTH psq-type.			Silent	SNP	ENST00000314994.3	37	c.159A>G	CCDS45556.1																																																																																				0.463	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421897.1	NM_145039		23	45	0	0	0	1	0	23	45				
FBN3	84467	broad.mit.edu	37	19	8161785	8161785	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:8161785G>A	ENST00000600128.1	-	43	5807	c.5393C>T	c.(5392-5394)tCg>tTg	p.S1798L	FBN3_ENST00000601739.1_Missense_Mutation_p.S1798L|FBN3_ENST00000270509.2_Missense_Mutation_p.S1798L			Q75N90	FBN3_HUMAN	fibrillin 3	1798	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCGCCTGGCGACAGTTTGTA	0.617																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5392-5394)tCg>tTg		fibrillin 3							79.0	75.0	76.0					19																	8161785		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8161785G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5393C>T	19.37:g.8161785G>A	ENSP00000470498:p.Ser1798Leu					FBN3_ENST00000601739.1_Missense_Mutation_p.S1798L|FBN3_ENST00000270509.2_Missense_Mutation_p.S1798L	p.S1798L			Q75N90	FBN3_HUMAN			43	5807	-			1798			EGF-like 27; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5393C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718466	0.48622	.	.	ENSG00000142449	ENST00000270509	D	0.92099	-2.97	3.39	3.39	0.38822	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.90397	0.6994	N	0.16833	0.445	0.58432	D	0.999999	D	0.67145	0.996	P	0.59948	0.866	D	0.90382	0.4389	10	0.41790	T	0.15	.	14.1052	0.65085	0.0:0.0:1.0:0.0	.	1798	Q75N90	FBN3_HUMAN	L	1798	ENSP00000270509:S1798L	ENSP00000270509:S1798L	S	-	2	0	FBN3	8067785	1.000000	0.71417	0.220000	0.23810	0.044000	0.14063	6.952000	0.75989	1.574000	0.49760	0.561000	0.74099	TCG		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		54	112	0	0	0	1	0	54	112				
L1CAM	3897	broad.mit.edu	37	X	153135292	153135292	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:153135292C>A	ENST00000370060.1	-	10	1278	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	L1CAM_ENST00000361699.4_Missense_Mutation_p.E363D|L1CAM_ENST00000543994.1_Missense_Mutation_p.E365D|L1CAM_ENST00000370057.3_Missense_Mutation_p.E363D|L1CAM_ENST00000361981.3_Missense_Mutation_p.E358D|L1CAM_ENST00000538883.1_Missense_Mutation_p.E365D|L1CAM_ENST00000370055.1_Missense_Mutation_p.E358D	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	363	Ig-like C2-type 4.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTGACCTCTGGTTGGG	0.657																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1087-1089)gaG>gaT		L1 cell adhesion molecule							39.0	28.0	32.0					X																	153135292		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135292C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1089G>T	X.37:g.153135292C>A	ENSP00000359077:p.Glu363Asp					L1CAM_ENST00000370057.3_Missense_Mutation_p.E363D|L1CAM_ENST00000361981.3_Missense_Mutation_p.E358D|L1CAM_ENST00000361699.4_Missense_Mutation_p.E363D|L1CAM_ENST00000543994.1_Missense_Mutation_p.E365D|L1CAM_ENST00000538883.1_Missense_Mutation_p.E365D|L1CAM_ENST00000370055.1_Missense_Mutation_p.E358D	p.E363D	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			10	1278	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		363			Ig-like C2-type 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1089G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692429	0.48202	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.77	0.97	0.19692	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.193290	0.35013	N	0.003518	T	0.53077	0.1774	L	0.33339	1.005	0.31235	N	0.695889	B;P;B	0.37594	0.088;0.601;0.108	B;B;B	0.39840	0.072;0.311;0.117	T	0.54669	-0.8259	10	0.34782	T	0.22	.	9.8457	0.41026	0.0:0.6297:0.0:0.3703	.	358;363;363	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	D	363;365;363;365;358;358;363	ENSP00000359077:E363D;ENSP00000438430:E365D;ENSP00000359074:E363D;ENSP00000439645:E365D;ENSP00000354712:E358D;ENSP00000359072:E358D;ENSP00000355380:E363D	ENSP00000355380:E363D	E	-	3	2	L1CAM	152788486	0.000000	0.05858	0.678000	0.29963	0.973000	0.67179	-0.493000	0.06459	-0.009000	0.14296	-0.297000	0.09499	GAG		0.657	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	48	1	0	0.00116845	1	0.00119092	6	48				
NOS1	4842	broad.mit.edu	37	12	117691483	117691483	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:117691483T>C	ENST00000338101.4	-	17	2714	c.2710A>G	c.(2710-2712)Aga>Gga	p.R904G	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R870G			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AAGTTGTCTCTGAGGTCGGGC	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2608-2610)Aga>Gga		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						85.0	92.0	90.0					12																	117691483		2133	4247	6380	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117691483T>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2710A>G	12.37:g.117691483T>C	ENSP00000337459:p.Arg904Gly					NOS1_ENST00000338101.4_Missense_Mutation_p.R904G|NOS1_ENST00000344089.3_3'UTR	p.R870G	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	17	3293	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		870			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2608A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141676	0.57044	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.58358	0.34;0.34	4.84	4.84	0.62591	Flavodoxin/nitric oxide synthase (2);	0.048600	0.85682	D	0.000000	T	0.42108	0.1188	N	0.16833	0.445	0.80722	D	1	P	0.36183	0.542	B	0.42462	0.388	T	0.29761	-1.0001	10	0.22109	T	0.4	-14.5751	14.5776	0.68262	0.0:0.0:0.0:1.0	.	870	P29475	NOS1_HUMAN	G	765;870;870;904	ENSP00000320758:R870G;ENSP00000337459:R904G	ENSP00000320758:R870G	R	-	1	2	NOS1	116175866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.359000	0.52292	2.042000	0.60477	0.533000	0.62120	AGA		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			10	137	0	0	0	1	0	10	137				
TTC7A	57217	broad.mit.edu	37	2	47221500	47221500	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:47221500C>T	ENST00000319190.5	+	7	1216	c.848C>T	c.(847-849)gCg>gTg	p.A283V	TTC7A_ENST00000409245.1_Missense_Mutation_p.A249V|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.A283V|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	283					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCAGATGGCGGCCAAGCAC	0.632																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(847-849)gCg>gTg		tetratricopeptide repeat domain 7A							92.0	99.0	96.0					2																	47221500		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47221500C>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.848C>T	2.37:g.47221500C>T	ENSP00000316699:p.Ala283Val					TTC7A_ENST00000409245.1_Missense_Mutation_p.A249V|TTC7A_ENST00000394850.2_Missense_Mutation_p.A283V|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR	p.A283V	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1216	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	283					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.848C>T	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589491	0.28357	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.29917	1.96;1.96;1.55	4.63	4.63	0.57726	.	0.130558	0.49305	D	0.000146	T	0.22704	0.0548	L	0.29908	0.895	0.80722	D	1	P;B;P;B;B	0.52316	0.952;0.091;0.612;0.231;0.147	B;B;B;B;B	0.38655	0.278;0.017;0.113;0.032;0.038	T	0.03212	-1.1060	10	0.32370	T	0.25	-3.3374	16.7677	0.85528	0.0:1.0:0.0:0.0	.	283;249;283;111;249	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	V	249;283;283;110	ENSP00000386307:A249V;ENSP00000316699:A283V;ENSP00000378320:A283V	ENSP00000316699:A283V	A	+	2	0	TTC7A	47075004	0.998000	0.40836	0.937000	0.37676	0.803000	0.45373	5.062000	0.64326	2.569000	0.86673	0.655000	0.94253	GCG		0.632	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		14	294	0	0	0	1	0	14	294				
OR14C36	127066	broad.mit.edu	37	1	248512274	248512274	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:248512274C>G	ENST00000317861.1	+	1	198	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATCTGTCTATCTTGGATGCCT	0.478																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(196-198)atC>atG		olfactory receptor, family 14, subfamily C, member 36							229.0	195.0	206.0					1																	248512274		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512274C>G	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.198C>G	1.37:g.248512274C>G	ENSP00000324534:p.Ile66Met						p.I66M	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	198	+			66					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.198C>G	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866610	0.32977	.	.	ENSG00000177174	ENST00000317861	T	0.00551	6.65	4.05	-0.501	0.12008	GPCR, rhodopsin-like superfamily (1);	0.610995	0.13328	U	0.396125	T	0.00580	0.0019	M	0.64404	1.975	0.09310	N	1	B	0.32338	0.365	B	0.30401	0.115	T	0.41288	-0.9517	10	0.46703	T	0.11	.	6.3304	0.21266	0.1332:0.6045:0.0:0.2623	.	66	Q8NHC7	O14CZ_HUMAN	M	66	ENSP00000324534:I66M	ENSP00000324534:I66M	I	+	3	3	OR14C36	246578897	0.000000	0.05858	0.001000	0.08648	0.718000	0.41266	-2.682000	0.00836	0.055000	0.16094	0.395000	0.25975	ATC		0.478	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		5	152	0	0	0	1	0	5	152				
OR2A5	393046	broad.mit.edu	37	7	143748408	143748408	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:143748408T>G	ENST00000408906.2	+	1	948	c.914T>G	c.(913-915)tTg>tGg	p.L305W		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AAAAGAGTGTTGTGGAAACAG	0.473																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(913-915)tTg>tGg		olfactory receptor, family 2, subfamily A, member 5							96.0	96.0	96.0					7																	143748408		1947	4158	6105	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748408T>G	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.914T>G	7.37:g.143748408T>G	ENSP00000386208:p.Leu305Trp						p.L305W	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	948	+	Melanoma(164;0.0783)		305					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.914T>G	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	t	9.584	1.124245	0.20959	.	.	ENSG00000221836	ENST00000408906	T	0.50277	0.75	5.36	2.92	0.33932	.	0.000000	0.26727	U	0.022804	T	0.53834	0.1821	L	0.55743	1.74	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.47711	-0.9096	10	0.87932	D	0	.	1.9776	0.03419	0.1779:0.0855:0.1571:0.5795	.	305	Q96R48	OR2A5_HUMAN	W	305	ENSP00000386208:L305W	ENSP00000386208:L305W	L	+	2	0	OR2A5	143379341	0.209000	0.23505	0.037000	0.18230	0.122000	0.20287	2.487000	0.45268	0.441000	0.26529	0.524000	0.50904	TTG		0.473	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			8	136	0	0	0	1	0	8	136				
KIF20B	9585	broad.mit.edu	37	10	91465121	91465121	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:91465121A>G	ENST00000371728.3	+	2	135	c.70A>G	c.(70-72)Agg>Ggg	p.R24G	KIF20B_ENST00000394289.2_Missense_Mutation_p.R24G|KIF20B_ENST00000260753.4_Missense_Mutation_p.R24G|KIF20B_ENST00000416354.1_Missense_Mutation_p.R24G	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	24					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCCAATTGCAAGGCCTTCAGA	0.358																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(70-72)Agg>Ggg		kinesin family member 20B							150.0	145.0	147.0					10																	91465121		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91465121A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.70A>G	10.37:g.91465121A>G	ENSP00000360793:p.Arg24Gly					KIF20B_ENST00000371728.3_Missense_Mutation_p.R24G|KIF20B_ENST00000260753.4_Missense_Mutation_p.R24G|KIF20B_ENST00000394289.2_Missense_Mutation_p.R24G	p.R24G			Q96Q89	KI20B_HUMAN			2	142	+			24					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.70A>G		.	.	.	.	.	.	.	.	.	.	A	19.29	3.798249	0.70567	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.71341	-0.38;-0.34;-0.41;-0.35;-0.56	5.57	5.57	0.84162	.	0.000000	0.48767	D	0.000169	T	0.74191	0.3684	L	0.32530	0.975	0.31977	N	0.606412	D;B	0.69078	0.997;0.074	D;B	0.66084	0.941;0.184	T	0.79075	-0.1952	10	0.87932	D	0	-13.4921	10.7605	0.46261	0.8412:0.1588:0.0:0.0	.	24;24	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	G	24	ENSP00000260753:R24G;ENSP00000411545:R24G;ENSP00000377830:R24G;ENSP00000360793:R24G;ENSP00000390946:R24G	ENSP00000260753:R24G	R	+	1	2	KIF20B	91455101	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	2.733000	0.47360	2.104000	0.64026	0.528000	0.53228	AGG		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		58	114	0	0	0	1	0	58	114				
ADAMTS12	81792	broad.mit.edu	37	5	33588803	33588803	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:33588803C>T	ENST00000504830.1	-	18	3101	c.2766G>A	c.(2764-2766)ccG>ccA	p.P922P	ADAMTS12_ENST00000352040.3_Silent_p.P837P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	922	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P922P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTCTGTGGGCGGGAGAGCCT	0.632										HNSCC(64;0.19)																												ENST00000504830.1																			1	Substitution - coding silent(1)	p.P922P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2764-2766)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							127.0	126.0	126.0					5																	33588803		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33588803C>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.2766G>A	5.37:g.33588803C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P837P	p.P922P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			18	3101	-			922			TSP type-1 3.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2766G>A	CCDS34140.1																																																																																				0.632	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		77	90	0	0	0	1	0	77	90				
ACSL6	23305	broad.mit.edu	37	5	131321132	131321132	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:131321132A>C	ENST00000379240.1	-	9	962	c.809T>G	c.(808-810)cTc>cGc	p.L270R	ACSL6_ENST00000379249.3_Missense_Mutation_p.L270R|ACSL6_ENST00000544770.1_Missense_Mutation_p.L179R|ACSL6_ENST00000543479.1_Missense_Mutation_p.L270R|ACSL6_ENST00000357096.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379255.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379244.1_Missense_Mutation_p.L270R|ACSL6_ENST00000431707.1_Missense_Mutation_p.L250R|ACSL6_ENST00000379246.1_Missense_Mutation_p.L281R|ACSL6_ENST00000296869.4_Missense_Mutation_p.L295R|ACSL6_ENST00000379264.2_Missense_Mutation_p.L295R|ACSL6_ENST00000379272.2_Missense_Mutation_p.L285R			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	270					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACAATGGAGAGGTCATCAGG	0.627																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(883-885)cTc>cGc		acyl-CoA synthetase long-chain family member 6							118.0	94.0	102.0					5																	131321132		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131321132A>C	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.809T>G	5.37:g.131321132A>C	ENSP00000368542:p.Leu270Arg					ACSL6_ENST00000544770.1_Missense_Mutation_p.L179R|ACSL6_ENST00000379272.2_Missense_Mutation_p.L285R|ACSL6_ENST00000296869.4_Missense_Mutation_p.L295R|ACSL6_ENST00000379240.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379255.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379249.3_Missense_Mutation_p.L270R|ACSL6_ENST00000357096.1_Missense_Mutation_p.L235R|ACSL6_ENST00000431707.1_Missense_Mutation_p.L250R|ACSL6_ENST00000379246.1_Missense_Mutation_p.L281R|ACSL6_ENST00000543479.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379244.1_Missense_Mutation_p.L270R	p.L295R	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	992	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	270					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.884T>G		.	.	.	.	.	.	.	.	.	.	A	24.7	4.558657	0.86231	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.29	5.29	0.74685	AMP-dependent synthetase/ligase (1);	0.059271	0.64402	D	0.000001	T	0.79358	0.4432	H	0.97758	4.07	0.80722	D	1	D;D;D;D;D;D;D	0.63046	0.979;0.99;0.992;0.983;0.971;0.971;0.971	D;D;D;D;D;D;D	0.70935	0.929;0.917;0.971;0.958;0.917;0.917;0.917	D	0.87073	0.2161	10	0.87932	D	0	.	15.2459	0.73507	1.0:0.0:0.0:0.0	.	270;285;260;270;235;295;295	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	R	270;295;285;235;235;295;281;270;179;270;250;270;235	ENSP00000368551:L270R;ENSP00000368566:L295R;ENSP00000368574:L285R;ENSP00000349608:L235R;ENSP00000368557:L235R;ENSP00000296869:L295R;ENSP00000368548:L281R;ENSP00000368546:L270R;ENSP00000445154:L179R;ENSP00000368542:L270R;ENSP00000413329:L250R;ENSP00000442124:L270R;ENSP00000397507:L235R	ENSP00000296869:L295R	L	-	2	0	ACSL6	131349031	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.280000	0.95786	2.012000	0.59069	0.460000	0.39030	CTC		0.627	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		9	41	0	0	0	1	0	9	41				
HELZ2	85441	broad.mit.edu	37	20	62196935	62196935	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr20:62196935G>A	ENST00000467148.1	-	8	3309	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	HELZ2_ENST00000427522.2_Silent_p.D511D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1080					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTGGCTCTCGTCCAGAAGCT	0.672																																						ENST00000467148.1																			0											c.(3238-3240)gaC>gaT		helicase with zinc finger 2, transcriptional coactivator							33.0	26.0	28.0					20																	62196935		2196	4294	6490	SO:0001819	synonymous_variant	85441							g.chr20:62196935G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3240C>T	20.37:g.62196935G>A						HELZ2_ENST00000427522.2_Silent_p.D511D	p.D1080D	NM_001037335.2	NP_001032412.2					8	3309	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.3240C>T	CCDS33508.1																																																																																				0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	45	0	0	0	1	0	4	45				
ANKRD32	84250	broad.mit.edu	37	5	94014527	94014527	+	Silent	SNP	A	A	G	rs199780350		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:94014527A>G	ENST00000265140.5	+	15	2261	c.1842A>G	c.(1840-1842)gaA>gaG	p.E614E		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	614						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TCAAACATGAACTAGCTTACT	0.313													A|||	1	0.000199681	0.0	0.0	5008	,	,		16981	0.0		0.001	False		,,,				2504	0.0					ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(1840-1842)gaA>gaG		ankyrin repeat domain 32							171.0	133.0	145.0					5																	94014527		692	1591	2283	SO:0001819	synonymous_variant	84250							g.chr5:94014527A>G	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1842A>G	5.37:g.94014527A>G							p.E614E	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	15	2261	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	614					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	c.1842A>G	CCDS4071.2																																																																																				0.313	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		46	60	0	0	0	1	0	46	60				
FAM13C	220965	broad.mit.edu	37	10	61012753	61012753	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:61012753C>T	ENST00000373868.2	-	12	1425	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E	FAM13C_ENST00000277705.6_Silent_p.E466E|FAM13C_ENST00000435852.2_Silent_p.E446E|FAM13C_ENST00000442566.3_Silent_p.E467E|FAM13C_ENST00000373867.3_Silent_p.E362E|FAM13C_ENST00000419214.2_Silent_p.E348E|FAM13C_ENST00000468840.2_Silent_p.E363E	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	446										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTCCTCTTCCTCCTGCTTAT	0.463																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1084-1086)gaG>gaA		family with sequence similarity 13, member C							135.0	127.0	130.0					10																	61012753		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61012753C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1338G>A	10.37:g.61012753C>T						FAM13C_ENST00000373868.2_Silent_p.E446E|FAM13C_ENST00000277705.6_Silent_p.E466E|FAM13C_ENST00000435852.2_Silent_p.E446E|FAM13C_ENST00000468840.2_Silent_p.E363E|FAM13C_ENST00000419214.2_Silent_p.E348E|FAM13C_ENST00000442566.3_Silent_p.E467E	p.E362E	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			13	1551	-			446					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.1086G>A	CCDS7255.1																																																																																				0.463	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			6	87	0	0	0	1	0	6	87				
FES	2242	broad.mit.edu	37	15	91428384	91428384	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:91428384C>T	ENST00000328850.3	+	2	251	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	FES_ENST00000394302.1_Missense_Mutation_p.R37W|FES_ENST00000394300.3_Missense_Mutation_p.R37W|FES_ENST00000444422.2_Missense_Mutation_p.R37W|FES_ENST00000450438.2_Missense_Mutation_p.R37W|FES_ENST00000414248.2_Missense_Mutation_p.R37W	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	37	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGCCCAGCGGGTCAAGAG	0.637																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(109-111)Cgg>Tgg		feline sarcoma oncogene							93.0	101.0	98.0					15																	91428384		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428384C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.109C>T	15.37:g.91428384C>T	ENSP00000331504:p.Arg37Trp					FES_ENST00000450438.2_Missense_Mutation_p.R37W|FES_ENST00000414248.2_Missense_Mutation_p.R37W|FES_ENST00000394300.3_Missense_Mutation_p.R37W|FES_ENST00000394302.1_Missense_Mutation_p.R37W|FES_ENST00000444422.2_Missense_Mutation_p.R37W	p.R37W	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		2	251	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		37			FCH.|Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.109C>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313415	0.81358	.	.	ENSG00000182511	ENST00000416779;ENST00000328850;ENST00000414248;ENST00000394302;ENST00000452243;ENST00000443697;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.89	0.157	0.14915	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.71036	2.16	0.36264	D	0.854721	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.995;0.997;1.0;0.997;1.0	T	0.77938	-0.2400	10	0.87932	D	0	-41.4129	15.2412	0.73471	0.4518:0.5482:0.0:0.0	.	37;37;37;37;37;37	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	W	37	ENSP00000410477:R37W;ENSP00000331504:R37W;ENSP00000414629:R37W;ENSP00000377839:R37W;ENSP00000392696:R37W;ENSP00000395425:R37W;ENSP00000400868:R37W;ENSP00000377837:R37W;ENSP00000409915:R37W	ENSP00000331504:R37W	R	+	1	2	FES	89229388	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	1.540000	0.36115	0.209000	0.20645	0.650000	0.86243	CGG		0.637	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		4	245	0	0	0	1	0	4	245				
MYH3	4621	broad.mit.edu	37	17	10547674	10547674	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:10547674G>A	ENST00000583535.1	-	14	1491	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	MYH3_ENST00000226209.7_Silent_p.I468I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	468	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAACCTCAAAGATTTCAAAGC	0.403																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1402-1404)atC>atT		myosin, heavy chain 3, skeletal muscle, embryonic							98.0	99.0	99.0					17																	10547674		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10547674G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1404C>T	17.37:g.10547674G>A						MYH3_ENST00000226209.7_Silent_p.I468I	p.I468I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			14	1491	-			468			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1404C>T	CCDS11157.1																																																																																				0.403	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		36	111	0	0	0	1	0	36	111				
NCOA1	8648	broad.mit.edu	37	2	24952522	24952522	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:24952522G>A	ENST00000406961.1	+	17	3691	c.3039G>A	c.(3037-3039)agG>agA	p.R1013R	NCOA1_ENST00000395856.3_Silent_p.R1013R|NCOA1_ENST00000288599.5_Silent_p.R1013R|NCOA1_ENST00000405141.1_Silent_p.R1013R|NCOA1_ENST00000348332.3_Silent_p.R1013R|NCOA1_ENST00000407230.1_Silent_p.R862R|NCOA1_ENST00000538539.1_Silent_p.R1013R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1013					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGGTCAGGCAAAAACCTT	0.512			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3037-3039)agG>agA		nuclear receptor coactivator 1							152.0	138.0	143.0					2																	24952522		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24952522G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3039G>A	2.37:g.24952522G>A						NCOA1_ENST00000538539.1_Silent_p.R1013R|NCOA1_ENST00000395856.3_Silent_p.R1013R|NCOA1_ENST00000407230.1_Silent_p.R862R|NCOA1_ENST00000406961.1_Silent_p.R1013R|NCOA1_ENST00000288599.5_Silent_p.R1013R|NCOA1_ENST00000348332.3_Silent_p.R1013R	p.R1013R			Q15788	NCOA1_HUMAN			18	3750	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1013					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.3039G>A	CCDS1712.1																																																																																				0.512	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	217	0	0	0	1	0	4	217				
PDC	5132	broad.mit.edu	37	1	186413580	186413580	+	Missense_Mutation	SNP	C	C	T	rs372016238		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:186413580C>T	ENST00000391997.2	-	4	359	c.272G>A	c.(271-273)cGt>cAt	p.R91H	PDC_ENST00000497198.1_Missense_Mutation_p.R39H|PDC_ENST00000340129.5_Missense_Mutation_p.R91H|PDC_ENST00000456239.2_Missense_Mutation_p.R39H	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	91					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ACGGTATTTACGAAGGCAGTT	0.368																																						ENST00000391997.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(271-273)cGt>cAt		phosducin		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	104.0	104.0	104.0		272,116	5.6	1.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDC	NM_002597.3,NM_022576.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	91/247,39/195	186413580	1,13005	2203	4300	6503	SO:0001583	missense	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186413580C>T	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.272G>A	1.37:g.186413580C>T	ENSP00000375855:p.Arg91His					PDC_ENST00000340129.5_Missense_Mutation_p.R91H|PDC_ENST00000456239.2_Missense_Mutation_p.R39H|PDC_ENST00000497198.1_Missense_Mutation_p.R39H	p.R91H	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	4	359	-		Breast(1374;1.53e-05)	91					Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	c.272G>A	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132405	0.77662	0.0	1.16E-4	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.58	5.58	0.84498	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.174663	0.51477	D	0.000091	T	0.60573	0.2279	M	0.72894	2.215	0.40237	D	0.977918	D	0.76494	0.999	P	0.58620	0.842	T	0.65492	-0.6155	10	0.72032	D	0.01	-2.6538	9.7756	0.40616	0.0:0.8427:0.0:0.1573	.	91	P20941	PHOS_HUMAN	H	91;39;39;91	ENSP00000375855:R91H;ENSP00000422775:R39H;ENSP00000411564:R39H;ENSP00000342033:R91H	ENSP00000342033:R91H	R	-	2	0	PDC	184680203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.203000	0.42752	2.611000	0.88343	0.655000	0.94253	CGT		0.368	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		53	106	0	0	0	1	0	53	106				
SKIDA1	387640	broad.mit.edu	37	10	21804129	21804129	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:21804129C>A	ENST00000449193.2	-	4	4875	c.2623G>T	c.(2623-2625)Gat>Tat	p.D875Y	SKIDA1_ENST00000444772.3_Missense_Mutation_p.D796Y	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	794						nucleus (GO:0005634)											GTTTGAGAATCCTTAGTGGTG	0.443																																						ENST00000449193.2																			0											c.(2623-2625)Gat>Tat		SKI/DACH domain containing 1							68.0	63.0	65.0					10																	21804129		1840	4092	5932	SO:0001583	missense	387640							g.chr10:21804129C>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2623G>T	10.37:g.21804129C>A	ENSP00000410041:p.Asp875Tyr					SKIDA1_ENST00000444772.3_Missense_Mutation_p.D796Y	p.D875Y	NM_207371.3	NP_997254.3					4	4875	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2623G>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411357	0.42817	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.52	5.52	0.82312	.	0.058667	0.64402	D	0.000002	T	0.60392	0.2265	N	0.22421	0.69	0.48236	D	0.999612	D	0.62365	0.991	P	0.55161	0.77	T	0.64478	-0.6398	9	0.72032	D	0.01	-0.0343	19.4126	0.94681	0.0:1.0:0.0:0.0	.	875	E9PAX1	.	Y	875;796	.	ENSP00000442432:D796Y	D	-	1	0	C10orf140	21844135	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.446000	0.66600	2.750000	0.94351	0.655000	0.94253	GAT		0.443	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		21	37	1	0	3.62473e-10	1	3.73031e-10	21	37				
ELF1	1997	broad.mit.edu	37	13	41556170	41556170	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:41556170C>G	ENST00000239882.3	-	2	335	c.21G>C	c.(19-21)caG>caC	p.Q7H	ELF1_ENST00000442101.1_Missense_Mutation_p.Q7H|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	7					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTAGGTCGTTCTGTTGGACAA	0.363																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(19-21)caG>caC		E74-like factor 1 (ets domain transcription factor)							77.0	78.0	77.0					13																	41556170		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41556170C>G	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.21G>C	13.37:g.41556170C>G	ENSP00000239882:p.Gln7His					ELF1_ENST00000442101.1_Missense_Mutation_p.Q7H|ELF1_ENST00000498824.1_5'UTR	p.Q7H	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	2	335	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	7					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.21G>C	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436341	0.43224	.	.	ENSG00000120690	ENST00000442101;ENST00000239882;ENST00000405737	T;T;T	0.46451	0.87;0.87;0.87	4.81	3.97	0.46021	.	0.073837	0.53938	D	0.000046	T	0.38931	0.1059	L	0.34521	1.04	0.35033	D	0.758973	P;P	0.37612	0.602;0.602	P;P	0.45377	0.478;0.478	T	0.54111	-0.8342	10	0.62326	D	0.03	.	9.656	0.39925	0.0:0.8393:0.0:0.1607	.	7;7	E9PDQ9;P32519	.;ELF1_HUMAN	H	7	ENSP00000405580:Q7H;ENSP00000239882:Q7H;ENSP00000384135:Q7H	ENSP00000239882:Q7H	Q	-	3	2	ELF1	40454170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.049000	0.49869	1.151000	0.42436	0.655000	0.94253	CAG		0.363	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		54	97	0	0	0	1	0	54	97				
ZNF326	284695	broad.mit.edu	37	1	90482967	90482967	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:90482967T>G	ENST00000340281.4	+	8	1161	c.1018T>G	c.(1018-1020)Tta>Gta	p.L340V	ZNF326_ENST00000370447.3_Missense_Mutation_p.L251V|ZNF326_ENST00000455342.2_Missense_Mutation_p.L134V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	340					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.L340V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TCAGGAAACATTAGATCATAT	0.299																																						ENST00000340281.4																			1	Substitution - Missense(1)	p.L340V(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1018-1020)Tta>Gta		zinc finger protein 326							65.0	66.0	66.0					1																	90482967		2200	4291	6491	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90482967T>G	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1018T>G	1.37:g.90482967T>G	ENSP00000340796:p.Leu340Val					ZNF326_ENST00000370447.2_Missense_Mutation_p.L251V|ZNF326_ENST00000455342.2_Missense_Mutation_p.L134V	p.L340V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	8	1161	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	340					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1018T>G	CCDS727.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400544	0.62177	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.54279	0.58;0.58;0.58	5.48	1.96	0.26148	.	0.000000	0.64402	D	0.000006	T	0.55049	0.1896	M	0.62723	1.935	0.40915	D	0.984264	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.58171	-0.7683	10	0.59425	D	0.04	-5.6418	9.4085	0.38477	0.0:0.2787:0.0:0.7213	.	340;340	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	V	340;340;251;134	ENSP00000340796:L340V;ENSP00000359476:L251V;ENSP00000403470:L134V	ENSP00000340796:L340V	L	+	1	2	ZNF326	90255555	0.545000	0.26449	1.000000	0.80357	0.990000	0.78478	0.439000	0.21575	0.395000	0.25257	0.529000	0.55759	TTA		0.299	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		3	47	0	0	0	1	0	3	47				
QRICH2	84074	broad.mit.edu	37	17	74277003	74277003	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:74277003G>A	ENST00000262765.5	-	9	3976	c.3797C>T	c.(3796-3798)gCc>gTc	p.A1266V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1266										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGCAGGATGGCACTCTGCAC	0.617																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3796-3798)gCc>gTc		glutamine rich 2							77.0	61.0	67.0					17																	74277003		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74277003G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3797C>T	17.37:g.74277003G>A	ENSP00000262765:p.Ala1266Val						p.A1266V	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			9	3976	-			1266					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3797C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574899	0.86542	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.49432	2.89;0.78	4.78	4.78	0.61160	.	.	.	.	.	T	0.59649	0.2209	L	0.32530	0.975	0.28219	N	0.926612	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.96	T	0.56774	-0.7923	9	0.51188	T	0.08	-12.6566	17.4296	0.87536	0.0:0.0:1.0:0.0	.	1266;1266	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	1266;274;1266	ENSP00000262765:A1266V;ENSP00000394461:A274V	ENSP00000262765:A1266V	A	-	2	0	QRICH2	71788598	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	4.121000	0.57904	2.213000	0.71641	0.655000	0.94253	GCC		0.617	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		4	87	0	0	0	1	0	4	87				
CIC	23152	broad.mit.edu	37	19	42797278	42797278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:42797278C>T	ENST00000575354.2	+	15	3680	c.3640C>T	c.(3640-3642)Cga>Tga	p.R1214*	CIC_ENST00000160740.3_Nonsense_Mutation_p.R1212*|CIC_ENST00000572681.2_Nonsense_Mutation_p.R2121*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1214	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGCCCAGTCCGAGAGCCAAC	0.706			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6361-6363)Cga>Tga		capicua transcriptional repressor							10.0	13.0	12.0					19																	42797278		2192	4276	6468	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797278C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3640C>T	19.37:g.42797278C>T	ENSP00000458663:p.Arg1214*					CIC_ENST00000160740.3_Nonsense_Mutation_p.R1212*|CIC_ENST00000575354.2_Nonsense_Mutation_p.R1214*	p.R2121*			Q96RK0	CIC_HUMAN			16	6429	+		Prostate(69;0.00682)	1214					Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.6361C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920372	0.92249	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	0.857	0.19025	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.8729	10.0345	0.42120	0.5313:0.4687:0.0:0.0	.	.	.	.	X	1214	.	ENSP00000160740:R1214X	R	+	1	2	CIC	47489118	0.146000	0.22672	0.660000	0.29694	0.978000	0.69477	0.173000	0.16724	0.617000	0.30160	0.491000	0.48974	CGA		0.706	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	9	0	0	0	1	0	8	9				
FAM120C	54954	broad.mit.edu	37	X	54161406	54161406	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:54161406A>C	ENST00000375180.2	-	7	1530	c.1474T>G	c.(1474-1476)Ttt>Gtt	p.F492V	FAM120C_ENST00000328235.4_Missense_Mutation_p.F492V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	492							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAATTGGCAAAGGGGCTGTTC	0.522																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1474-1476)Ttt>Gtt		family with sequence similarity 120C							78.0	68.0	72.0					X																	54161406		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54161406A>C	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1474T>G	X.37:g.54161406A>C	ENSP00000364324:p.Phe492Val					FAM120C_ENST00000328235.4_Missense_Mutation_p.F492V	p.F492V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			7	1530	-			492					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.1474T>G	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.636499	0.29068	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.45276	0.9;0.9	5.78	3.32	0.38043	.	0.103041	0.64402	N	0.000002	T	0.27098	0.0664	L	0.27053	0.805	0.80722	D	1	B;B	0.20052	0.041;0.041	B;B	0.16722	0.016;0.011	T	0.04767	-1.0928	10	0.39692	T	0.17	-6.7684	7.1062	0.25364	0.7751:0.1458:0.0791:0.0	.	492;492	F8W881;Q9NX05	.;F120C_HUMAN	V	492	ENSP00000364324:F492V;ENSP00000329896:F492V	ENSP00000329896:F492V	F	-	1	0	FAM120C	54178131	1.000000	0.71417	0.986000	0.45419	0.490000	0.33462	1.988000	0.40697	0.277000	0.22141	0.486000	0.48141	TTT		0.522	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		24	62	0	0	0	1	0	24	62				
MRGPRD	116512	broad.mit.edu	37	11	68747839	68747839	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:68747839C>T	ENST00000309106.3	-	1	616	c.617G>A	c.(616-618)cGg>cAg	p.R206Q		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	206						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R206Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAGCTCCTCCGCACCCAGAC	0.627																																						ENST00000309106.3																			1	Substitution - Missense(1)	p.R206Q(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(616-618)cGg>cAg		MAS-related GPR, member D							42.0	40.0	40.0					11																	68747839		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747839C>T	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.617G>A	11.37:g.68747839C>T	ENSP00000310631:p.Arg206Gln						p.R206Q	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	616	-			206					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.617G>A	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	c	10.85	1.468258	0.26335	.	.	ENSG00000172938	ENST00000309106	T	0.42131	0.98	4.85	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	0.664574	0.12446	N	0.468233	T	0.13114	0.0318	N	0.12569	0.235	0.09310	N	1	P	0.42123	0.771	B	0.35039	0.194	T	0.39187	-0.9626	10	0.06891	T	0.86	-8.7257	5.9978	0.19503	0.1991:0.3507:0.0:0.4501	.	206	Q8TDS7	MRGRD_HUMAN	Q	206	ENSP00000310631:R206Q	ENSP00000310631:R206Q	R	-	2	0	MRGPRD	68504415	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.648000	0.01995	-1.265000	0.02449	-1.772000	0.00662	CGG		0.627	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		5	74	0	0	0	1	0	5	74				
SEMA6B	10501	broad.mit.edu	37	19	4544495	4544495	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:4544495C>T	ENST00000586582.1	-	17	2095	c.1785G>A	c.(1783-1785)tcG>tcA	p.S595S	SEMA6B_ENST00000586965.1_Silent_p.S595S|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Silent_p.S595S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	595					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTTCACCGACACCAGCC	0.736																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1783-1785)tcG>tcA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							9.0	10.0	9.0					19																	4544495		2031	4081	6112	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4544495C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1785G>A	19.37:g.4544495C>T						SEMA6B_ENST00000586965.1_Silent_p.S595S|SEMA6B_ENST00000301293.3_Silent_p.S595S	p.S595S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2095	-		Hepatocellular(1079;0.137)	595					A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.1785G>A	CCDS12131.1																																																																																				0.736	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		3	23	0	0	0	1	0	3	23				
OR4C3	256144	broad.mit.edu	37	11	48346856	48346856	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:48346856T>C	ENST00000319856.4	+	1	385	c.364T>C	c.(364-366)Tgc>Cgc	p.C122R		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTATGAGTGCTGCATGGCTCA	0.458																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(364-366)Tgc>Cgc		olfactory receptor, family 4, subfamily C, member 3							266.0	252.0	257.0					11																	48346856		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346856T>C	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.364T>C	11.37:g.48346856T>C	ENSP00000321419:p.Cys122Arg						p.C122R	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	385	+			95					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.364T>C	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918990	0.73098	.	.	ENSG00000176547	ENST00000319856	T	0.00545	6.67	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.05181	0.0138	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00512	-1.1696	10	0.87932	D	0	.	14.2031	0.65716	0.0:0.0:0.0:1.0	.	95	Q8NH37	OR4C3_HUMAN	R	122	ENSP00000321419:C122R	ENSP00000321419:C122R	C	+	1	0	OR4C3	48303432	1.000000	0.71417	0.270000	0.24601	0.905000	0.53344	6.083000	0.71326	2.245000	0.73994	0.391000	0.25812	TGC		0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		9	496	0	0	0	1	0	9	496				
CCDC160	347475	broad.mit.edu	37	X	133379730	133379730	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:133379730G>T	ENST00000517294.1	+	3	1283	c.900G>T	c.(898-900)gaG>gaT	p.E300D	CCDC160_ENST00000370809.4_Missense_Mutation_p.E300D			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	300										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GAGCCTTGGAGTTGCTTAGAA	0.373																																						ENST00000517294.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						c.(898-900)gaG>gaT		coiled-coil domain containing 160							35.0	33.0	34.0					X																	133379730		1832	4072	5904	SO:0001583	missense	347475							g.chrX:133379730G>T	BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.900G>T	X.37:g.133379730G>T	ENSP00000427951:p.Glu300Asp					CCDC160_ENST00000370809.4_Missense_Mutation_p.E300D	p.E300D			A6NGH7	CC160_HUMAN			3	1283	+			300						Missense_Mutation	SNP	ENST00000517294.1	37	c.900G>T	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	0.646	-0.811525	0.02798	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.94092	-3.35;-3.35	5.42	0.243	0.15503	.	0.117336	0.37906	N	0.001897	D	0.84547	0.5496	L	0.34521	1.04	0.19300	N	0.999973	P	0.37573	0.6	B	0.35931	0.214	T	0.74746	-0.3561	10	0.15952	T	0.53	-6.0072	5.6174	0.17438	0.3286:0.3736:0.2978:0.0	.	300	A6NGH7	CC160_HUMAN	D	300	ENSP00000427951:E300D;ENSP00000359845:E300D	ENSP00000359845:E300D	E	+	3	2	CCDC160	133207396	0.000000	0.05858	0.049000	0.19019	0.044000	0.14063	-0.610000	0.05629	-0.331000	0.08501	-1.314000	0.01303	GAG		0.373	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		3	32	1	0	1	1	1	3	32				
ANO9	338440	broad.mit.edu	37	11	418476	418476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:418476C>T	ENST00000332826.6	-	23	2328	c.2244G>A	c.(2242-2244)tgG>tgA	p.W748*	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	748					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCCTTCCATGCCACATCTTCT	0.622																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(2242-2244)tgG>tgA		anoctamin 9							102.0	90.0	94.0					11																	418476		2203	4300	6503	SO:0001587	stop_gained	338440					chloride channel complex	chloride channel activity	g.chr11:418476C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2244G>A	11.37:g.418476C>T	ENSP00000332788:p.Trp748*						p.W748*	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			23	2328	-			748					B3KUC4|B4E134|Q8TEN4	Nonsense_Mutation	SNP	ENST00000332826.6	37	c.2244G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.018649	0.93404	.	.	ENSG00000185101	ENST00000332826	.	.	.	3.49	2.57	0.30868	.	3.171750	0.01387	U	0.013125	.	.	.	.	.	.	0.50313	D	0.999867	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.9227	0.47174	0.0:0.9061:0.0:0.0939	.	.	.	.	X	748	.	ENSP00000332788:W748X	W	-	3	0	ANO9	408476	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.718000	0.25866	0.838000	0.34948	-0.362000	0.07510	TGG		0.622	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		45	88	0	0	0	1	0	45	88				
TLE4	7091	broad.mit.edu	37	9	82323125	82323125	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:82323125G>T	ENST00000376552.2	+	12	2047	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.L274F|TLE4_ENST00000376537.4_Missense_Mutation_p.L375F|TLE4_ENST00000376520.4_Missense_Mutation_p.L375F|TLE4_ENST00000265284.6_Missense_Mutation_p.L318F	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	343					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.L375L(1)|p.L343L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCCCGGATTGAGGCCTGTAC	0.418																																						ENST00000376520.4																			2	Substitution - coding silent(2)	p.L375L(1)|p.L343L(1)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1123-1125)ttG>ttT		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							79.0	73.0	75.0					9																	82323125		1846	4088	5934	SO:0001583	missense	7091							g.chr9:82323125G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1029G>T	9.37:g.82323125G>T	ENSP00000365735:p.Leu343Phe					TLE4_ENST00000376537.4_Missense_Mutation_p.L375F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.L274F|TLE4_ENST00000376552.2_Missense_Mutation_p.L343F|TLE4_ENST00000265284.6_Missense_Mutation_p.L318F	p.L375F			O60756	BCE1_HUMAN			13	1953	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1125G>T	CCDS43837.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.75|17.75|17.75	3.466174|3.466174|3.466174	0.63625|0.63625|0.63625	.|.|.	.|.|.	ENSG00000106829|ENSG00000106829|ENSG00000106829	ENST00000496114|ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142|ENST00000417836	.|T;T;T;T;T;T;T;T|.	.|0.53206|.	.|0.63;0.73;0.77;0.78;0.76;0.96;1.76;1.33|.	6.17|6.17|6.17	2.17|2.17|2.17	0.27698|0.27698|0.27698	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.41351|.	.|0.1155|.	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;D;B;B|.	.|0.54964|.	.|0.019;0.969;0.018;0.025|.	.|B;P;B;B|.	.|0.47603|.	.|0.044;0.551;0.03;0.021|.	.|T|.	.|0.12477|.	.|-1.0546|.	.|10|.	.|0.42905|.	.|T|.	.|0.14|.	-12.7517|-12.7517|-12.7517	6.2303|6.2303|6.2303	0.20732|0.20732|0.20732	0.1045:0.1123:0.6675:0.1157|0.1045:0.1123:0.6675:0.1157|0.1045:0.1123:0.6675:0.1157	.|.|.	.|318;274;375;343|.	.|F8W6T6;Q04727-2;Q04727-3;Q04727|.	.|.;.;.;TLE4_HUMAN|.	X|F|L	134|343;274;375;375;318;309;162;71|108	.|ENSP00000365735:L343F;ENSP00000365727:L274F;ENSP00000365703:L375F;ENSP00000365720:L375F;ENSP00000265284:L318F;ENSP00000409313:L309F;ENSP00000417844:L162F;ENSP00000418409:L71F|.	.|ENSP00000265284:L318F|.	E|L|X	+|+|+	1|3|2	0|2|2	TLE4|TLE4|TLE4	81512945|81512945|81512945	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.983000|0.983000|0.983000	0.44433|0.44433|0.44433	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	1.370000|1.370000|1.370000	0.34238|0.34238|0.34238	0.871000|0.871000|0.871000	0.35750|0.35750|0.35750	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|TTG|TGA		0.418	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		15	171	1	0	6.81908e-15	1	7.22822e-15	15	171				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	109	1	0	0.00909568	1	0.00918231	4	109				
PTCHD1	139411	broad.mit.edu	37	X	23398283	23398283	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:23398283G>A	ENST00000379361.4	+	2	1787	c.927G>A	c.(925-927)ctG>ctA	p.L309L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	309	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCATAAGCCTGGCCACTCTCA	0.517																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(925-927)ctG>ctA		patched domain containing 1							109.0	100.0	103.0					X																	23398283		2203	4300	6503	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398283G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.927G>A	X.37:g.23398283G>A							p.L309L	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1787	+			309			SSD.		B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.927G>A	CCDS35215.2																																																																																				0.517	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		71	155	0	0	0	1	0	71	155				
PPP1R26	9858	broad.mit.edu	37	9	138378891	138378891	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:138378891G>A	ENST00000356818.2	+	4	3084	c.2535G>A	c.(2533-2535)ttG>ttA	p.L845L	PPP1R26_ENST00000605660.1_Silent_p.L845L|PPP1R26_ENST00000401470.3_Silent_p.L845L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.L845L|PPP1R26_ENST00000604351.1_Silent_p.L845L	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	845					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGAAGTTTTTGGCGGAAAAGG	0.612																																						ENST00000356818.2																			0											c.(2533-2535)ttG>ttA		protein phosphatase 1, regulatory subunit 26							55.0	65.0	62.0					9																	138378891		2195	4294	6489	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138378891G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2535G>A	9.37:g.138378891G>A						PPP1R26_ENST00000605660.1_Silent_p.L845L|PPP1R26_ENST00000401470.3_Silent_p.L845L|PPP1R26_ENST00000605286.1_Silent_p.L845L|PPP1R26_ENST00000604351.1_Silent_p.L845L|PPP1R26_ENST00000602993.1_Intron	p.L845L	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3084	+			845					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2535G>A	CCDS6988.1																																																																																				0.612	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		4	228	0	0	0	1	0	4	228				
EHBP1	23301	broad.mit.edu	37	2	63272232	63272232	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:63272232C>T	ENST00000263991.5	+	24	4004	c.3522C>T	c.(3520-3522)cgC>cgT	p.R1174R	EHBP1_ENST00000405015.3_Silent_p.R1103R|AC009501.4_ENST00000437346.1_RNA|AC009501.4_ENST00000429952.1_RNA|EHBP1_ENST00000431489.1_Silent_p.R1103R|AC009501.4_ENST00000413549.1_RNA|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000354487.3_Silent_p.R1139R|AC009501.4_ENST00000412297.1_RNA|EHBP1_ENST00000405289.1_Silent_p.R1139R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1174						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGAAGCGACGCGAACAGCTTC	0.662																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(3520-3522)cgC>cgT		EH domain binding protein 1							22.0	20.0	21.0					2																	63272232		2196	4292	6488	SO:0001819	synonymous_variant	23301					cytoplasm|membrane		g.chr2:63272232C>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3522C>T	2.37:g.63272232C>T						EHBP1_ENST00000354487.3_Silent_p.R1139R|EHBP1_ENST00000405289.1_Silent_p.R1139R|AC009501.4_ENST00000437346.1_RNA|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Silent_p.R1103R|AC009501.4_ENST00000429952.1_RNA|EHBP1_ENST00000405015.3_Silent_p.R1103R	p.R1174R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		24	4004	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		1174					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.3522C>T	CCDS1872.1																																																																																				0.662	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		6	11	0	0	0	1	0	6	11				
MLLT3	4300	broad.mit.edu	37	9	20414298	20414298	+	Silent	SNP	A	A	G	rs143254940	byFrequency	TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:20414298A>G	ENST00000380338.4	-	5	832	c.546T>C	c.(544-546)agT>agC	p.S182S	MLLT3_ENST00000429426.2_Silent_p.S179S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	182	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.522			T	MLL	ALL								A|||	7	0.00139776	0.0008	0.0014	5008	,	,		12006	0.0		0.005	False		,,,				2504	0.0					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(544-546)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3		A		5,4401	6.2+/-15.9	0,5,2198	41.0	49.0	46.0		546	-7.1	0.9	9	dbSNP_134	46	34,8564	15.3+/-51.7	1,32,4266	no	coding-synonymous	MLLT3	NM_004529.2		1,37,6464	GG,GA,AA		0.3954,0.1135,0.2999		182/569	20414298	39,12965	2203	4299	6502	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414298A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.546T>C	9.37:g.20414298A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S179S	p.S182S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	832	-			182			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.546T>C	CCDS6494.1																																																																																				0.522	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	155	0	0	0	1	0	5	155				
CRYBA1	1411	broad.mit.edu	37	17	27581333	27581333	+	Missense_Mutation	SNP	C	C	T	rs147836280		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:27581333C>T	ENST00000225387.3	+	6	615	c.614C>T	c.(613-615)tCg>tTg	p.S205L		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	205	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GCCCAGACTTCGCAGATCCAA	0.443																																						ENST00000225387.3																			0				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(613-615)tCg>tTg		crystallin, beta A1		C	LEU/SER	0,4406		0,0,2203	137.0	131.0	133.0		614	3.1	1.0	17	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRYBA1	NM_005208.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	205/216	27581333	1,13005	2203	4300	6503	SO:0001583	missense	1411				visual perception	soluble fraction	structural constituent of eye lens	g.chr17:27581333C>T		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.614C>T	17.37:g.27581333C>T	ENSP00000225387:p.Ser205Leu						p.S205L	NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		6	615	+			205			Beta/gamma crystallin 'Greek key' 4.		Q13633|Q14CM9	Missense_Mutation	SNP	ENST00000225387.3	37	c.614C>T	CCDS11249.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778758	0.49891	0.0	1.16E-4	ENSG00000108255	ENST00000225387	T	0.76709	-1.04	5.4	3.13	0.36017	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.320888	0.38897	N	0.001535	T	0.68274	0.2983	L	0.46819	1.47	0.35514	D	0.800892	B	0.23591	0.088	B	0.19946	0.027	T	0.72137	-0.4381	10	0.72032	D	0.01	.	7.9514	0.30017	0.0:0.5908:0.3024:0.1067	.	205	P05813	CRBA1_HUMAN	L	205	ENSP00000225387:S205L	ENSP00000225387:S205L	S	+	2	0	CRYBA1	24605459	0.912000	0.30974	0.997000	0.53966	0.986000	0.74619	0.181000	0.16880	1.215000	0.43411	0.655000	0.94253	TCG		0.443	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		16	236	0	0	0	1	0	16	236				
N4BP2L2	10443	broad.mit.edu	37	13	33111032	33111032	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:33111032T>A	ENST00000267068.3	-	2	297	c.133A>T	c.(133-135)Aga>Tga	p.R45*	N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.R45*|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	45					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTTGGATTCTGTGAAAATCA	0.388																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(133-135)Aga>Tga		NEDD4 binding protein 2-like 2							112.0	101.0	105.0					13																	33111032		2203	4300	6503	SO:0001587	stop_gained	10443							g.chr13:33111032T>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.133A>T	13.37:g.33111032T>A	ENSP00000267068:p.Arg45*					N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.R45*	p.R45*	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	297	-		Lung SC(185;0.0262)	45					A3KME8	Nonsense_Mutation	SNP	ENST00000267068.3	37	c.133A>T	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129635	0.56721	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	.	.	.	5.22	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999922	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0471	0.25052	0.0:0.3027:0.0:0.6973	.	.	.	.	X	45	.	ENSP00000267068:R45X	R	-	1	2	N4BP2L2	32009032	0.005000	0.15991	0.675000	0.29917	0.590000	0.36582	0.730000	0.26043	0.836000	0.34901	0.383000	0.25322	AGA		0.388	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		55	100	0	0	0	1	0	55	100				
PSMD2	5708	broad.mit.edu	37	3	184022109	184022109	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:184022109C>T	ENST00000310118.4	+	12	2027	c.1469C>T	c.(1468-1470)gCt>gTt	p.A490V	PSMD2_ENST00000439383.1_Missense_Mutation_p.A360V|PSMD2_ENST00000435761.1_Missense_Mutation_p.A331V|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	490					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTGGCTTATGCTGGCTCAAAT	0.478																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1468-1470)gCt>gTt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						183.0	171.0	175.0					3																	184022109		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184022109C>T	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1469C>T	3.37:g.184022109C>T	ENSP00000310129:p.Ala490Val					PSMD2_ENST00000439383.1_Missense_Mutation_p.A360V|PSMD2_ENST00000435761.1_Missense_Mutation_p.A331V|EIF2B5_ENST00000444495.1_Intron	p.A490V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	2027	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		490					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.1469C>T	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651770	0.88056	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.33216	1.42;1.42;1.42	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.79011	2.435	0.80722	D	1	P;D	0.69078	0.524;0.997	P;D	0.77004	0.71;0.989	T	0.60742	-0.7203	10	0.66056	D	0.02	-13.5054	20.4268	0.99070	0.0:1.0:0.0:0.0	.	331;490	E9PCS3;Q13200	.;PSMD2_HUMAN	V	490;164;482;331;360	ENSP00000310129:A490V;ENSP00000402618:A331V;ENSP00000416028:A360V	ENSP00000310129:A490V	A	+	2	0	PSMD2	185504803	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.617000	0.67716	2.834000	0.97654	0.508000	0.49915	GCT		0.478	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		4	173	0	0	0	1	0	4	173				
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:102292832G>C	ENST00000561463.1	+	0	878									DNM1 pseudogene 47																		GAAGACACTCGTGGAGGCGTC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292832G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292832G>C														0	878	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	49	0	0	0	1	0	4	49				
WDFY3	23001	broad.mit.edu	37	4	85634366	85634366	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:85634366G>A	ENST00000295888.4	-	51	8395	c.7988C>T	c.(7987-7989)aCg>aTg	p.T2663M	WDFY3_ENST00000322366.6_Missense_Mutation_p.T2646M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2663	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGAACTGTCCGTTAGAGATGG	0.423																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7936-7938)aCg>aTg		WD repeat and FYVE domain containing 3							187.0	178.0	181.0					4																	85634366		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85634366G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7988C>T	4.37:g.85634366G>A	ENSP00000295888:p.Thr2663Met					WDFY3_ENST00000295888.4_Missense_Mutation_p.T2663M	p.T2646M			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	50	8344	-		Hepatocellular(203;0.114)	2663					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7937C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966688	0.74131	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.65549	-0.16;-0.16;-0.13	5.65	5.65	0.86999	.	0.047566	0.85682	D	0.000000	T	0.53433	0.1796	L	0.43923	1.385	0.58432	D	0.999999	P	0.40282	0.711	B	0.28011	0.085	T	0.58629	-0.7603	10	0.49607	T	0.09	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	2663	Q8IZQ1	WDFY3_HUMAN	M	2646;2663;266	ENSP00000318466:T2646M;ENSP00000295888:T2663M;ENSP00000424987:T266M	ENSP00000295888:T2663M	T	-	2	0	WDFY3	85853390	1.000000	0.71417	0.232000	0.24009	0.456000	0.32438	9.186000	0.94906	2.824000	0.97209	0.655000	0.94253	ACG		0.423	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		5	254	0	0	0	1	0	5	254				
PCLO	27445	broad.mit.edu	37	7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T	rs200140697		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:82582077C>T	ENST00000333891.9	-	5	8529	c.8192G>A	c.(8191-8193)cGt>cAt	p.R2731H	PCLO_ENST00000423517.2_Missense_Mutation_p.R2731H|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTACTGTACGCAAATCAAT	0.353																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8191-8193)cGt>cAt		piccolo presynaptic cytomatrix protein		C	HIS/ARG,HIS/ARG	1,3719		0,1,1859	58.0	55.0	56.0		8192,8192	5.3	1.0	7		56	0,8208		0,0,4104	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	29,29	0,1,5963	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging,probably-damaging	2731/4936,2731/5143	82582077	1,11927	1860	4104	5964	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582077C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8192G>A	7.37:g.82582077C>T	ENSP00000334319:p.Arg2731His					PCLO_ENST00000333891.8_Missense_Mutation_p.R2731H	p.R2731H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	8529	-			2662						Missense_Mutation	SNP	ENST00000333891.9	37	c.8192G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683043	0.29872	2.69E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.36520	1.29;1.25	5.34	5.34	0.76211	.	.	.	.	.	T	0.58906	0.2155	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.61302	-0.7090	9	0.87932	D	0	.	19.0323	0.92961	0.0:1.0:0.0:0.0	.	2731;2731	Q9Y6V0-5;Q9Y6V0-6	.;.	H	2662;2731;2731	ENSP00000334319:R2731H;ENSP00000388393:R2731H	ENSP00000334319:R2731H	R	-	2	0	PCLO	82420013	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.669000	0.68081	2.491000	0.84063	0.655000	0.94253	CGT		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	64	0	0	0	1	0	9	64				
NIT2	56954	broad.mit.edu	37	3	100065063	100065063	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:100065063C>T	ENST00000394140.4	+	6	560	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	157	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTACGACATGCGGTTTGCAGA	0.493																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(469-471)Cgg>Tgg		nitrilase family, member 2							234.0	181.0	199.0					3																	100065063		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100065063C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.469C>T	3.37:g.100065063C>T	ENSP00000377696:p.Arg157Trp						p.R157W	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			6	560	+			157			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.469C>T	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.117865|4.117865	0.77323|0.77323	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000497785|ENST00000394140	.|D	.|0.85773	.|-2.03	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91253|0.91253	0.7243|0.7243	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91721|0.91721	0.5389|0.5389	5|10	.|0.87932	.|D	.|0	-1.399|-1.399	15.2721|15.2721	0.73712|0.73712	0.1408:0.8592:0.0:0.0|0.1408:0.8592:0.0:0.0	.|.	.|157	.|Q9NQR4	.|NIT2_HUMAN	V|W	250|157	.|ENSP00000377696:R157W	.|ENSP00000377696:R157W	A|R	+|+	2|1	0|2	NIT2|NIT2	101547753|101547753	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.984000|0.984000	0.73092|0.73092	4.360000|4.360000	0.59455|0.59455	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.493	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		3	63	0	0	0	1	0	3	63				
BAI1	575	broad.mit.edu	37	8	143604041	143604041	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr8:143604041C>T	ENST00000517894.1	+	22	4109	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I	BAI1_ENST00000323289.5_Missense_Mutation_p.T1072I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1072					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGGATTCACCAAGGCCAAA	0.627																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3214-3216)aCc>aTc		brain-specific angiogenesis inhibitor 1							61.0	70.0	67.0					8																	143604041		2031	4181	6212	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143604041C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3215C>T	8.37:g.143604041C>T	ENSP00000430945:p.Thr1072Ile					BAI1_ENST00000323289.5_Missense_Mutation_p.T1072I	p.T1072I			O14514	BAI1_HUMAN			22	4109	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1072						Missense_Mutation	SNP	ENST00000517894.1	37	c.3215C>T		.	.	.	.	.	.	.	.	.	.	C	23.8	4.459559	0.84317	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.35789	1.29;1.29	3.72	3.72	0.42706	.	0.070425	0.56097	U	0.000032	T	0.47021	0.1423	L	0.42008	1.315	0.80722	D	1	D	0.55800	0.973	P	0.58780	0.845	T	0.52071	-0.8624	10	0.87932	D	0	.	14.462	0.67456	0.0:1.0:0.0:0.0	.	1072	E9PBK0	.	I	1072	ENSP00000430945:T1072I;ENSP00000313046:T1072I	ENSP00000313046:T1072I	T	+	2	0	BAI1	143601043	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.647000	0.67923	1.614000	0.50241	0.455000	0.32223	ACC		0.627	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		7	8	0	0	0	1	0	7	8				
GRIA3	2892	broad.mit.edu	37	X	122536950	122536950	+	Splice_Site	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:122536950G>T	ENST00000371251.1	+	8	1237		c.e8+1		GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000264357.5_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CTCTCGAAAAGTAAGTAACCA	0.318																																						ENST00000264357.5																			3	Unknown(3)	p.?(3)	breast(3)	breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.e8+1		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						103.0	100.0	101.0					X																	122536950		2203	4299	6502	SO:0001630	splice_region_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122536950G>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1185+1G>T	X.37:g.122536950G>T						GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site		NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			8	1477	+								D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Splice_Site	SNP	ENST00000371251.1	37		CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650416	0.87958	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6583	0.88184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA3	122364631	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.387000	0.81309	0.594000	0.82650	.		0.318	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	Intron	85	136	1	0	1.10345e-40	1	1.19353e-40	85	136				
ZNF845	91664	broad.mit.edu	37	19	53856007	53856007	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:53856007T>G	ENST00000595091.1	+	5	2298	c.2079T>G	c.(2077-2079)tgT>tgG	p.C693W	ZNF845_ENST00000458035.1_Missense_Mutation_p.C693W			Q96IR2	ZN845_HUMAN	zinc finger protein 845	693				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTACAAGTGTAATGAGTGTG	0.423																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2077-2079)tgT>tgG		zinc finger protein 845							72.0	74.0	73.0					19																	53856007		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856007T>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2079T>G	19.37:g.53856007T>G	ENSP00000470005:p.Cys693Trp					ZNF845_ENST00000595091.1_Missense_Mutation_p.C693W	p.C693W	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2196	+			693	Missing (in Ref. 1; BAG58121).					Missense_Mutation	SNP	ENST00000595091.1	37	c.2079T>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547530	0.27652	.	.	ENSG00000213799	ENST00000458035	D	0.85258	-1.96	2.22	-1.31	0.09230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95124	0.8420	H	0.99794	4.785	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85848	0.1402	9	0.87932	D	0	.	7.3337	0.26596	0.0:0.5175:0.0:0.4825	.	693	Q96IR2	ZN845_HUMAN	W	693	ENSP00000388311:C693W	ENSP00000388311:C693W	C	+	3	2	ZNF845	58547819	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.074000	0.03427	-0.240000	0.09696	-0.467000	0.05162	TGT		0.423	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		54	75	0	0	0	1	0	54	75				
SERGEF	26297	broad.mit.edu	37	11	17981080	17981080	+	Silent	SNP	G	G	A	rs199646432		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:17981080G>A	ENST00000265965.5	-	9	1099	c.948C>T	c.(946-948)ctC>ctT	p.L316L	SERGEF_ENST00000532265.1_Intron|SERGEF_ENST00000528200.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	316					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGAACAGGGGAGAAATGAAT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21443	0.0		0.0	False		,,,				2504	0.001					ENST00000265965.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						c.(946-948)ctC>ctT		secretion regulating guanine nucleotide exchange factor							109.0	106.0	107.0					11																	17981080		2200	4293	6493	SO:0001819	synonymous_variant	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:17981080G>A	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.948C>T	11.37:g.17981080G>A						SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	p.L316L	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN			9	1099	-			316					Q9UGK9	Silent	SNP	ENST00000265965.5	37	c.948C>T	CCDS7828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.65|11.65	1.700497|1.700497	0.30142|0.30142	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000533241|ENST00000529151	.|.	.|.	.|.	6.17|6.17	3.14|3.14	0.36123|0.36123	.|.	.|.	.|.	.|.	.|.	T|T	0.36358|0.36358	0.0964|0.0964	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.19257|0.19257	-1.0311|-1.0311	4|4	.|.	.|.	.|.	0.0649|0.0649	8.9108|8.9108	0.35552|0.35552	0.0809:0.3112:0.6079:0.0|0.0809:0.3112:0.6079:0.0	.|.	.|.	.|.	.|.	S|F	89|180	.|.	.|.	P|S	-|-	1|2	0|0	SERGEF|SERGEF	17937656|17937656	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.831000|0.831000	0.47069|0.47069	-0.023000|-0.023000	0.12456|0.12456	1.594000|1.594000	0.50039|0.50039	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.488	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139		44	66	0	0	0	1	0	44	66				
TRAF7	84231	broad.mit.edu	37	16	2225554	2225554	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr16:2225554C>T	ENST00000326181.6	+	17	1689	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	519					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TCACAGGCCTCAACCACTGGG	0.637																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1555-1557)ctC>ctT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							80.0	78.0	79.0					16																	2225554		2198	4300	6498	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2225554C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1557C>T	16.37:g.2225554C>T							p.L519L	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			17	1689	+			519					Q9H073	Silent	SNP	ENST00000326181.6	37	c.1557C>T	CCDS10461.1																																																																																				0.637	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		8	131	0	0	0	1	0	8	131				
PARK7	11315	broad.mit.edu	37	1	8037767	8037767	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:8037767C>T	ENST00000493678.1	+	6	445	c.378C>T	c.(376-378)caC>caT	p.H126H	PARK7_ENST00000377493.5_Silent_p.H106H|PARK7_ENST00000377491.1_Silent_p.H126H|PARK7_ENST00000338639.5_Silent_p.H126H|PARK7_ENST00000377488.1_Silent_p.H126H			Q99497	PARK7_HUMAN	parkinson protein 7	126					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTACAACACACCCTCTTGCTA	0.373																																						ENST00000493678.1																			0				large_intestine(1)	1						c.(376-378)caC>caT		parkinson protein 7							129.0	123.0	125.0					1																	8037767		2203	4300	6503	SO:0001819	synonymous_variant	0				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8037767C>T	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.378C>T	1.37:g.8037767C>T						PARK7_ENST00000338639.5_Silent_p.H126H|PARK7_ENST00000377491.1_Silent_p.H126H|PARK7_ENST00000377493.5_Silent_p.H106H|PARK7_ENST00000377488.1_Silent_p.H126H	p.H126H			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	6	445	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	126					B2R4Z1|O14805|Q6DR95|Q7LFU2	Silent	SNP	ENST00000493678.1	37	c.378C>T	CCDS93.1																																																																																				0.373	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		4	73	0	0	0	1	0	4	73				
FCRL4	83417	broad.mit.edu	37	1	157545510	157545510	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:157545510G>A	ENST00000271532.1	-	11	1575	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	480					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAAGTGTCCTGGAGGTATTAG	0.463																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1438-1440)tcC>tcT		Fc receptor-like 4							222.0	204.0	210.0					1																	157545510		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157545510G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1440C>T	1.37:g.157545510G>A						FCRL4_ENST00000448509.2_5'UTR	p.S480S	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			11	1575	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	480					Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.1440C>T	CCDS1166.1																																																																																				0.463	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		74	123	0	0	0	1	0	74	123				
FMNL3	91010	broad.mit.edu	37	12	50045824	50045824	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:50045824G>A	ENST00000293590.5	-	14	1728	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	FMNL3_ENST00000352151.5_Missense_Mutation_p.P448S|FMNL3_ENST00000335154.5_Missense_Mutation_p.P499S|FMNL3_ENST00000550488.1_Missense_Mutation_p.P499S			Q8IVF7	FMNL3_HUMAN	formin-like 3	499	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCGGAGGGTGGCATGCCCTCA	0.662																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1495-1497)Cca>Tca		formin-like 3							23.0	28.0	26.0					12																	50045824		2080	4198	6278	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50045824G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1495C>T	12.37:g.50045824G>A	ENSP00000293590:p.Pro499Ser					FMNL3_ENST00000352151.5_Missense_Mutation_p.P448S|FMNL3_ENST00000550488.1_Missense_Mutation_p.P499S|FMNL3_ENST00000293590.5_Missense_Mutation_p.P499S	p.P499S	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			14	1728	-			499			Pro-rich.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1495C>T		.	.	.	.	.	.	.	.	.	.	G	0.235	-1.017753	0.02078	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.18	0.98	0.19750	.	1.524060	0.03949	N	0.288223	T	0.20251	0.0487	L	0.34521	1.04	0.09310	N	1	B;B;B	0.15473	0.004;0.013;0.008	B;B;B	0.14023	0.003;0.01;0.005	T	0.17531	-1.0366	10	0.07644	T	0.81	.	4.3948	0.11358	0.1531:0.1263:0.591:0.1296	.	448;499;499	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	S	499;499;448;499	ENSP00000335655:P499S;ENSP00000447479:P499S;ENSP00000344311:P448S;ENSP00000293590:P499S	ENSP00000293590:P499S	P	-	1	0	FMNL3	48332091	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	0.322000	0.19576	0.664000	0.31047	0.561000	0.74099	CCA		0.662	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		3	32	0	0	0	1	0	3	32				
LATS2	26524	broad.mit.edu	37	13	21549235	21549235	+	Missense_Mutation	SNP	G	G	A	rs45523141	byFrequency	TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:21549235G>A	ENST00000382592.4	-	8	3446	c.3041C>T	c.(3040-3042)gCc>gTc	p.A1014V	LATS2_ENST00000542899.1_Missense_Mutation_p.A1014V	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)		ACCTTCGCTGGCATCGTTCCA	0.547																																						ENST00000382592.4																			0				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						c.(3040-3042)gCc>gTc		large tumor suppressor kinase 2							248.0	220.0	229.0					13																	21549235		2203	4300	6503	SO:0001583	missense	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.chr13:21549235G>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.3041C>T	13.37:g.21549235G>A	ENSP00000372035:p.Ala1014Val					LATS2_ENST00000542899.1_Missense_Mutation_p.A1014V	p.A1014V	NM_014572.2	NP_055387.2	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)	8	3446	-		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)	1014		A -> G (in dbSNP:rs45523141).	AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000382592.4	37	c.3041C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	4.773	0.143767	0.09134	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.58506	0.33;0.33	6.07	0.582	0.17412	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.885835	0.09726	N	0.763776	T	0.39253	0.1071	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.25916	-1.0118	10	0.37606	T	0.19	.	7.3936	0.26923	0.0689:0.3375:0.4878:0.1058	.	1014	Q9NRM7	LATS2_HUMAN	V	1014	ENSP00000372035:A1014V;ENSP00000441817:A1014V	ENSP00000372035:A1014V	A	-	2	0	LATS2	20447235	0.005000	0.15991	0.000000	0.03702	0.008000	0.06430	0.384000	0.20668	0.116000	0.18110	-0.175000	0.13238	GCC		0.547	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			5	235	0	0	0	1	0	5	235				
C10orf76	79591	broad.mit.edu	37	10	103783291	103783291	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:103783291C>G	ENST00000370033.4	-	8	731	c.612G>C	c.(610-612)gaG>gaC	p.E204D		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	204						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATACCCATGCTCCCTACGAC	0.438																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(610-612)gaG>gaC		chromosome 10 open reading frame 76							118.0	115.0	116.0					10																	103783291		1952	4148	6100	SO:0001583	missense	79591					integral to membrane		g.chr10:103783291C>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.612G>C	10.37:g.103783291C>G	ENSP00000359050:p.Glu204Asp						p.E204D	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	8	731	-		Colorectal(252;0.123)	204					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.612G>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847695	0.32606	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.22	3.3	0.37823	.	0.051268	0.85682	D	0.000000	T	0.42359	0.1199	L	0.34521	1.04	0.80722	D	1	B	0.19445	0.036	B	0.18263	0.021	T	0.17258	-1.0375	9	0.28530	T	0.3	-13.1119	8.6237	0.33877	0.0:0.6146:0.0:0.3854	.	204	Q5T2E6	CJ076_HUMAN	D	204	.	ENSP00000359050:E204D	E	-	3	2	C10orf76	103773281	0.979000	0.34478	1.000000	0.80357	0.991000	0.79684	0.247000	0.18179	0.635000	0.30488	0.563000	0.77884	GAG		0.438	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		46	82	0	0	0	1	0	46	82				
AREL1	9870	broad.mit.edu	37	14	75134270	75134270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr14:75134270G>A	ENST00000356357.4	-	16	2457	c.1942C>T	c.(1942-1944)Caa>Taa	p.Q648*	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	648	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTGGAGTTTGAGCTCCACCT	0.443																																						ENST00000356357.4																			0											c.(1942-1944)Caa>Taa		apoptosis resistant E3 ubiquitin protein ligase 1							83.0	77.0	79.0					14																	75134270		1870	4109	5979	SO:0001587	stop_gained	9870							g.chr14:75134270G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1942C>T	14.37:g.75134270G>A	ENSP00000348714:p.Gln648*					AREL1_ENST00000557401.1_5'UTR	p.Q648*	NM_001039479.1	NP_001034568.1					16	2457	-								B4E2C7|Q7LDY1|Q8IYY9	Nonsense_Mutation	SNP	ENST00000356357.4	37	c.1942C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	43	10.179386	0.99353	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	.	.	.	X	648;487;487	.	ENSP00000348714:Q648X	Q	-	1	0	KIAA0317	74204023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.790000	0.85794	2.773000	0.95371	0.655000	0.94253	CAA		0.443	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		46	72	0	0	0	1	0	46	72				
RPTN	126638	broad.mit.edu	37	1	152129200	152129200	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:152129200G>A	ENST00000316073.3	-	3	439	c.375C>T	c.(373-375)caC>caT	p.H125H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	125	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTCTTCCTCGTGCCTCTGTC	0.542																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(373-375)caC>caT		repetin							511.0	423.0	450.0					1																	152129200		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129200G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.375C>T	1.37:g.152129200G>A							p.H125H	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	439	-			125			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.375C>T	CCDS41397.1																																																																																				0.542	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		41	407	0	0	0	1	0	41	407				
PITPNM2	57605	broad.mit.edu	37	12	123481449	123481449	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:123481449G>T	ENST00000542749.1	-	10	1544	c.1481C>A	c.(1480-1482)cCc>cAc	p.P494H	PITPNM2_ENST00000392428.1_Missense_Mutation_p.P215H|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P494H|PITPNM2_ENST00000280562.5_Missense_Mutation_p.P494H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	494					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATGGCTGTAGGGGCTGAGGCT	0.662																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1480-1482)cCc>cAc		phosphatidylinositol transfer protein, membrane-associated 2							25.0	25.0	25.0					12																	123481449		2201	4295	6496	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481449G>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1481C>A	12.37:g.123481449G>T	ENSP00000437611:p.Pro494His					PITPNM2_ENST00000392428.1_Missense_Mutation_p.P215H|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P494H|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P494H	p.P494H			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	11	1686	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		494					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1481C>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300294	0.81136	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000001	T	0.51041	0.1651	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58205	-0.7677	10	0.87932	D	0	-28.5877	18.2489	0.89996	0.0:0.0:1.0:0.0	.	494;494	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	H	494;494;215;494	ENSP00000280562:P494H;ENSP00000322218:P494H;ENSP00000376223:P215H;ENSP00000437611:P494H	ENSP00000280562:P494H	P	-	2	0	PITPNM2	122047402	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	9.860000	0.99555	2.309000	0.77851	0.460000	0.39030	CCC		0.662	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		24	33	1	0	7.92952e-12	1	8.24048e-12	24	33				
ZAN	7455	broad.mit.edu	37	7	100350298	100350298	+	RNA	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:100350298C>T	ENST00000348028.3	+	0	2735				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							269.0	312.0	298.0					7																	100350298		1882	4119	6001			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350298C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350298C>T						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2718	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	11.71	1.720754	0.30503	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	3.97	0.987	0.19790	.	0.553938	0.13699	N	0.368999	T	0.53158	0.1779	L	0.33485	1.01	0.09310	N	0.999996	P;B	0.44734	0.842;0.201	P;B	0.47645	0.553;0.148	T	0.44345	-0.9334	10	0.62326	D	0.03	.	5.9038	0.18982	0.0:0.6494:0.1584:0.1922	.	857;857	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	857	ENSP00000445943:P857L;ENSP00000445091:P857L;ENSP00000444427:P857L	ENSP00000423579:P857L	P	+	2	0	ZAN	100188234	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.065000	0.16485	-0.192000	0.12808	CCC		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	244	0	0	0	1	0	5	244				
TNR	7143	broad.mit.edu	37	1	175355252	175355252	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:175355252G>A	ENST00000367674.2	-	8	2401	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	TNR_ENST00000263525.2_Missense_Mutation_p.R565W			Q92752	TENR_HUMAN	tenascin R	565	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCCAGGCCGCAGGGCCTGC	0.607																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1693-1695)Cgg>Tgg		tenascin R							58.0	56.0	56.0					1																	175355252		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355252G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1693C>T	1.37:g.175355252G>A	ENSP00000356646:p.Arg565Trp					TNR_ENST00000263525.2_Missense_Mutation_p.R565W	p.R565W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			8	2401	-	Renal(580;0.146)		565			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1693C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283584	0.59867	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.59502	0.26;0.26	5.58	0.775	0.18527	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.71036	2.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.77112	-0.2708	10	0.72032	D	0.01	.	15.9021	0.79387	0.0:0.0:0.5222:0.4778	.	565	Q92752	TENR_HUMAN	W	565	ENSP00000356646:R565W;ENSP00000263525:R565W	ENSP00000263525:R565W	R	-	1	2	TNR	173621875	0.992000	0.36948	0.993000	0.49108	0.509000	0.34042	0.840000	0.27600	0.236000	0.21180	-0.188000	0.12872	CGG		0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		4	139	0	0	0	1	0	4	139				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	47	0	0	0	1	0	4	47				
FUBP1	8880	broad.mit.edu	37	1	78430644	78430644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:78430644C>A	ENST00000370768.2	-	9	727	c.646G>T	c.(646-648)Gga>Tga	p.G216*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G237*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.G216*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATTTTAACTCCAGCCCGTTCC	0.363			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(646-648)Gga>Tga		far upstream element (FUSE) binding protein 1							76.0	83.0	80.0					1																	78430644		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430644C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.646G>T	1.37:g.78430644C>A	ENSP00000359804:p.Gly216*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G237*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G216*	p.G216*			Q96AE4	FUBP1_HUMAN			9	733	-			216			KH 2.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.646G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306083	0.95629	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.7246	20.2435	0.98387	0.0:1.0:0.0:0.0	.	.	.	.	X	215;216;216;215;237	.	ENSP00000294623:G215X	G	-	1	0	FUBP1	78203232	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.784000	0.95788	0.650000	0.86243	GGA		0.363	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		71	45	1	0	2.40655e-23	1	2.57671e-23	71	45				
NCKAP1L	3071	broad.mit.edu	37	12	54917307	54917307	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:54917307C>T	ENST00000293373.6	+	19	2087	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R620C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	670					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCGGAAGAACCGCAGCATTGT	0.542																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2008-2010)Cgc>Tgc		NCK-associated protein 1-like							77.0	77.0	77.0					12																	54917307		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917307C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2008C>T	12.37:g.54917307C>T	ENSP00000293373:p.Arg670Cys					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R620C	p.R670C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			19	2087	+			670					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2008C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936437	0.73442	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.36878	1.23;1.23	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68368	-0.5427	10	0.87932	D	0	-14.2469	16.1355	0.81481	0.0:1.0:0.0:0.0	.	670	P55160	NCKPL_HUMAN	C	670;620	ENSP00000293373:R670C;ENSP00000445596:R620C	ENSP00000293373:R670C	R	+	1	0	NCKAP1L	53203574	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.951000	0.29135	2.474000	0.83562	0.655000	0.94253	CGC		0.542	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		9	121	0	0	0	1	0	9	121				
OR4S2	219431	broad.mit.edu	37	11	55418641	55418641	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:55418641A>C	ENST00000312422.2	+	1	262	c.262A>C	c.(262-264)Aaa>Caa	p.K88Q		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGCAAAGGACAAAACCATCTC	0.418																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(262-264)Aaa>Caa		olfactory receptor, family 4, subfamily S, member 2							246.0	201.0	217.0					11																	55418641		2184	4046	6230	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418641A>C	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.262A>C	11.37:g.55418641A>C	ENSP00000310337:p.Lys88Gln						p.K88Q	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	262	+		all_epithelial(135;0.0748)	88					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.262A>C	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515096	0.44763	.	.	ENSG00000174982	ENST00000312422	T	0.38240	1.15	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000028	T	0.41190	0.1148	L	0.55103	1.725	0.09310	N	1	D	0.59767	0.986	P	0.50490	0.642	T	0.43702	-0.9375	10	0.72032	D	0.01	.	8.8322	0.35091	0.9147:0.0:0.0853:0.0	.	88	Q8NH73	OR4S2_HUMAN	Q	88	ENSP00000310337:K88Q	ENSP00000310337:K88Q	K	+	1	0	OR4S2	55175217	0.001000	0.12720	0.177000	0.23020	0.748000	0.42578	1.388000	0.34442	2.031000	0.59945	0.448000	0.29417	AAA		0.418	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		142	262	0	0	0	1	0	142	262				
ZEB1	6935	broad.mit.edu	37	10	31784731	31784731	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:31784731G>C	ENST00000320985.10	+	3	393	c.283G>C	c.(283-285)Ggg>Cgg	p.G95R	ZEB1_ENST00000542815.3_Missense_Mutation_p.G28R|ZEB1_ENST00000560721.2_Intron|ZEB1_ENST00000446923.2_Missense_Mutation_p.G79R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.G96R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	95					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGAAATCCTGGGGCCTGAAGC	0.383																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(235-237)Ggg>Cgg		zinc finger E-box binding homeobox 1							147.0	153.0	151.0					10																	31784731		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31784731G>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.283G>C	10.37:g.31784731G>C	ENSP00000319248:p.Gly95Arg					ZEB1_ENST00000560721.2_Intron|ZEB1_ENST00000320985.10_Missense_Mutation_p.G95R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.G28R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G96R	p.G79R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			3	626	+		Prostate(175;0.0156)	95					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.235G>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306607	0.81247	.	.	ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000424869;ENST00000446923	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.08	5.08	0.68730	.	0.605442	0.15617	N	0.253064	D	0.88548	0.6466	L	0.42245	1.32	0.33004	D	0.526653	D;D;D;D;D	0.89917	0.997;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.933;0.973;0.999;0.999;0.999	D	0.89359	0.3666	10	0.41790	T	0.15	-11.0623	18.4599	0.90735	0.0:0.0:1.0:0.0	.	28;79;95;96;95	F5H4I8;E9PCM7;B2RBI8;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	R	95;96;95;28;95;96;79	ENSP00000354487:G96R;ENSP00000444891:G28R;ENSP00000319248:G95R;ENSP00000415961:G96R;ENSP00000391612:G79R	ENSP00000319248:G95R	G	+	1	0	ZEB1	31824737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.538000	0.73852	2.352000	0.79861	0.650000	0.86243	GGG		0.383	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		5	180	0	0	0	1	0	5	180				
FAT4	79633	broad.mit.edu	37	4	126373108	126373108	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:126373108G>A	ENST00000394329.3	+	9	10950	c.10937G>A	c.(10936-10938)aGc>aAc	p.S3646N	FAT4_ENST00000335110.5_Missense_Mutation_p.S1944N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3646					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTTAGACAGCTTCCACTGC	0.478																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10936-10938)aGc>aAc		FAT atypical cadherin 4							88.0	89.0	89.0					4																	126373108		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373108G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10937G>A	4.37:g.126373108G>A	ENSP00000377862:p.Ser3646Asn					FAT4_ENST00000335110.5_Missense_Mutation_p.S1944N	p.S3646N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10950	+			3646					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10937G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230677	0.39399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.46451	0.87;0.87	5.91	4.18	0.49190	.	0.184475	0.23997	U	0.042512	T	0.27027	0.0662	L	0.29908	0.895	0.30378	N	0.782193	B;B;B	0.26258	0.145;0.09;0.145	B;B;B	0.21708	0.036;0.01;0.022	T	0.17930	-1.0353	10	0.12103	T	0.63	.	10.2234	0.43212	0.0786:0.1796:0.7417:0.0	.	1944;3646;3646	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	3646;1944	ENSP00000377862:S3646N;ENSP00000335169:S1944N	ENSP00000335169:S1944N	S	+	2	0	FAT4	126592558	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.842000	0.48230	1.499000	0.48617	0.655000	0.94253	AGC		0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		70	137	0	0	0	1	0	70	137				
PSD4	23550	broad.mit.edu	37	2	113958749	113958749	+	Silent	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:113958749G>A	ENST00000245796.6	+	17	3123	c.2928G>A	c.(2926-2928)gaG>gaA	p.E976E	PSD4_ENST00000441564.3_Silent_p.E947E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	976					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGCTACGAGACCTACGTGC	0.632																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2926-2928)gaG>gaA		pleckstrin and Sec7 domain containing 4							140.0	133.0	136.0					2																	113958749		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113958749G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2928G>A	2.37:g.113958749G>A						PSD4_ENST00000441564.2_Silent_p.E947E	p.E976E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			17	3123	+			976					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.2928G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061538	0.55432	.	.	ENSG00000125637	ENST00000409378	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.22719	N	0.998813	.	.	.	.	.	.	T	0.45745	-0.9240	5	0.33141	T	0.24	.	16.6736	0.85273	0.0:0.0:1.0:0.0	.	.	.	.	K	141	.	ENSP00000386606:R141K	R	+	2	0	PSD4	113675220	1.000000	0.71417	0.990000	0.47175	0.830000	0.47004	1.709000	0.37909	2.537000	0.85549	0.561000	0.74099	AGA		0.632	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		8	279	0	0	0	1	0	8	279				
TNFRSF8	943	broad.mit.edu	37	1	12144582	12144582	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:12144582G>A	ENST00000263932.2	+	2	347	c.125G>A	c.(124-126)aGg>aAg	p.R42K	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	42					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AAGGCTGTCAGGAGGTGCTGT	0.582																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(124-126)aGg>aAg		tumor necrosis factor receptor superfamily, member 8							87.0	75.0	79.0					1																	12144582		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12144582G>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.125G>A	1.37:g.12144582G>A	ENSP00000263932:p.Arg42Lys					TNFRSF8_ENST00000417814.2_Intron	p.R42K	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	2	347	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	42					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.125G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	g	3.914	-0.019495	0.07634	.	.	ENSG00000120949	ENST00000263932	T	0.14266	2.52	4.08	3.17	0.36434	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.010650	0.07944	N	0.979802	T	0.11367	0.0277	L	0.29908	0.895	0.18873	N	0.999983	P	0.43578	0.811	B	0.42495	0.389	T	0.17684	-1.0361	10	0.18276	T	0.48	-10.0292	7.5507	0.27796	0.1144:0.0:0.8856:0.0	.	42	P28908	TNR8_HUMAN	K	42	ENSP00000263932:R42K	ENSP00000263932:R42K	R	+	2	0	TNFRSF8	12067169	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	1.018000	0.30002	1.303000	0.44873	0.457000	0.33378	AGG		0.582	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			45	41	0	0	0	1	0	45	41				
TUBB8	347688	broad.mit.edu	37	10	93373	93373	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:93373C>T	ENST00000309812.4	-	4	1021	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB8_ENST00000447903.2_Missense_Mutation_p.R248H|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	320					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGGGCATGCGACCCCTGAA	0.522																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(742-744)cGc>cAc		tubulin, beta 8 class VIII							54.0	65.0	61.0					10																	93373		2105	4119	6224	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93373C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.959G>A	10.37:g.93373C>T	ENSP00000311042:p.Arg320His					TUBB8_ENST00000309812.4_Missense_Mutation_p.R320H	p.R248H			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1058	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	320					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.743G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720943	0.15372	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.84298	-1.83	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.092545	0.43260	N	0.000593	T	0.80497	0.4634	M	0.71206	2.165	0.37650	D	0.922361	B;B	0.19817	0.004;0.039	B;B	0.15052	0.002;0.012	T	0.74188	-0.3746	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	283;320	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	H	248;286;283;320	ENSP00000403895:R248H	ENSP00000272035:R286H	R	-	2	0	RP11-631M21.2	83373	1.000000	0.71417	0.129000	0.21949	0.130000	0.20726	3.697000	0.54764	0.119000	0.18210	0.121000	0.15741	CGC		0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		5	278	0	0	0	1	0	5	278				
ABCA2	20	broad.mit.edu	37	9	139905168	139905168	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:139905168C>T	ENST00000371605.3	-	39	6222	c.6075G>A	c.(6073-6075)aaG>aaA	p.K2025K	ABCA2_ENST00000265662.5_Silent_p.K2026K|ABCA2_ENST00000341511.6_Silent_p.K2026K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2025					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCCACAGGCTTGGTAGACA	0.637																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6076-6078)aaG>aaA		ATP-binding cassette, sub-family A (ABC1), member 2							89.0	100.0	96.0					9																	139905168		2155	4256	6411	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139905168C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6075G>A	9.37:g.139905168C>T						ABCA2_ENST00000371605.3_Silent_p.K2025K|ABCA2_ENST00000341511.6_Silent_p.K2026K	p.K2026K			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	40	6225	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2025					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.6078G>A																																																																																					0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		60	94	0	0	0	1	0	60	94				
KIF5B	3799	broad.mit.edu	37	10	32320036	32320036	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:32320036A>T	ENST00000302418.4	-	14	2003	c.1546T>A	c.(1546-1548)Tat>Aat	p.Y516N		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	516					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCAATTCATATTCCTTAGTT	0.318			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1546-1548)Tat>Aat		kinesin family member 5B							105.0	102.0	103.0					10																	32320036		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32320036A>T	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1546T>A	10.37:g.32320036A>T	ENSP00000307078:p.Tyr516Asn						p.Y516N	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			14	2003	-		Prostate(175;0.0137)	516					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1546T>A	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.731989	0.48939	.	.	ENSG00000170759	ENST00000302418	T	0.74526	-0.85	6.17	6.17	0.99709	.	0.059005	0.64402	D	0.000001	T	0.49592	0.1566	N	0.01493	-0.835	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.51156	-0.8741	10	0.18710	T	0.47	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	516	P33176	KINH_HUMAN	N	516	ENSP00000307078:Y516N	ENSP00000307078:Y516N	Y	-	1	0	KIF5B	32360042	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.131000	0.71670	2.371000	0.80710	0.533000	0.62120	TAT		0.318	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		18	107	0	0	0	1	0	18	107				
PRKCI	5584	broad.mit.edu	37	3	169998192	169998192	+	Splice_Site	SNP	G	G	A			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:169998192G>A	ENST00000295797.4	+	9	1187		c.e9+1			NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota						actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TGATGATGAGGTAAGCACTGC	0.348																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.e9+1		protein kinase C, iota							73.0	72.0	72.0					3																	169998192		2203	4300	6503	SO:0001630	splice_region_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169998192G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.882+1G>A	3.37:g.169998192G>A								NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		9	1187	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)							D3DNQ4|Q8WW06	Splice_Site	SNP	ENST00000295797.4	37		CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395168	0.83011	.	.	ENSG00000163558	ENST00000295797	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCI	171480886	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.459000	0.97638	2.890000	0.99128	0.650000	0.86243	.		0.348	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	Intron	19	55	0	0	0	1	0	19	55				
MFSD5	84975	broad.mit.edu	37	12	53647528	53647528	+	Silent	SNP	C	C	T			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:53647528C>T	ENST00000329548.4	+	2	1100	c.909C>T	c.(907-909)acC>acT	p.T303T	MFSD5_ENST00000534842.1_Silent_p.T410T	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	303					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATCGCCACCTCCAAGAGGT	0.587																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1228-1230)acC>acT		major facilitator superfamily domain containing 5							110.0	90.0	97.0					12																	53647528		2203	4300	6503	SO:0001819	synonymous_variant	84975				transport	integral to membrane		g.chr12:53647528C>T	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.909C>T	12.37:g.53647528C>T						MFSD5_ENST00000329548.4_Silent_p.T303T	p.T410T	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1377	+			303					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	c.1230C>T	CCDS8851.1																																																																																				0.587	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		38	81	0	0	0	1	0	38	81				
NBPF1	55672	broad.mit.edu	37	1	16891370	16891372	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:16891370_16891372delTCT	ENST00000430580.2	-	28	3993_3995	c.3106_3108delAGA	c.(3106-3108)agadel	p.R1036del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		tcttcgttgatcttcttcccctt	0.414																																						ENST00000430580.2																			0											c.(3106-3108)del		neuroblastoma breakpoint family, member 1																																				SO:0001651	inframe_deletion	55672					cytoplasm		g.chr1:16891370_16891372delTCT	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3106_3108delAGA	1.37:g.16891373_16891375delTCT	ENSP00000474456:p.Arg1036del						p.R1036del	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	28	3993_3995	-			1026			NBPF 6.		Q8N4E8|Q9C0H0	In_Frame_Del	DEL	ENST00000430580.2	37	c.3106_3108delAGA																																																																																					0.414	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		31	1771						31	1771	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	170003518	170003520	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:170003518_170003520delTTC	ENST00000361580.2	-	7	962_964	c.735_737delGAA	c.(733-738)aagaaa>aaa	p.245_246KK>K	KIFAP3_ENST00000490550.1_5'Flank|KIFAP3_ENST00000367765.1_In_Frame_Del_p.205_206KK>K|KIFAP3_ENST00000367767.1_In_Frame_Del_p.201_202KK>K|KIFAP3_ENST00000538366.1_In_Frame_Del_p.167_168KK>K	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	245					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATCAGCTTTCTTCTTCTTTG	0.33																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(613-618)aaa>aa		kinesin-associated protein 3																																				SO:0001651	inframe_deletion	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170003518_170003520delTTC	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.735_737delGAA	1.37:g.170003524_170003526delTTC	ENSP00000354560:p.Lys246del					KIFAP3_ENST00000538366.1_In_Frame_Del_p.KK167del|KIFAP3_ENST00000361580.2_In_Frame_Del_p.KK245del|KIFAP3_ENST00000367767.1_In_Frame_Del_p.KK201del	p.KK205del	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			7	2116_2118	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		245					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	In_Frame_Del	DEL	ENST00000361580.2	37	c.615_617delGAA	CCDS1288.1																																																																																				0.330	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		16	124						16	124	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234465531	234465534	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:234465531_234465534delACAA	ENST00000427112.2	-	4	548_551	c.513_516delTTGT	c.(511-516)gtttgtfs	p.VC171fs	USP40_ENST00000251722.6_Frame_Shift_Del_p.VC171fs|USP40_ENST00000450966.1_Frame_Shift_Del_p.VC183fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	171	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACATTCTTTACAAACAATCTGGT	0.363																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(511-516)gtfs		ubiquitin specific peptidase 40																																				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234465531_234465534delACAA	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.513_516delTTGT	2.37:g.234465535_234465538delACAA	ENSP00000387898:p.Val171fs					USP40_ENST00000450966.1_Frame_Shift_Del_p.VC183fs|USP40_ENST00000427112.2_Frame_Shift_Del_p.VC171fs	p.VC171fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	5	630_633	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	171					Q6NX38|Q70EL0	Frame_Shift_Del	DEL	ENST00000427112.2	37	c.513_516delTTGT	CCDS46547.1																																																																																				0.363	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		27	55						27	55	---	---	---	---
RFC4	5984	broad.mit.edu	37	3	186509619	186509620	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:186509619_186509620delTT	ENST00000392481.2	-	8	976_977	c.695_696delAA	c.(694-696)aaafs	p.K232fs	RFC4_ENST00000433496.1_Frame_Shift_Del_p.K232fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.K232fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	232					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTTCTGACACTTTAACAAGATA	0.322																																						ENST00000392481.2																			0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(694-696)afs		replication factor C (activator 1) 4, 37kDa																																				SO:0001589	frameshift_variant	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186509619_186509620delTT		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.695_696delAA	3.37:g.186509619_186509620delTT	ENSP00000376272:p.Lys232fs					RFC4_ENST00000433496.1_Frame_Shift_Del_p.K232fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.K232fs	p.K232fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	8	976_977	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		232					B4DM41|D3DNV2|Q6FHX7	Frame_Shift_Del	DEL	ENST00000392481.2	37	c.695_696delAA	CCDS3283.1																																																																																				0.322	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		20	146						20	146	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5642373	5642375	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:5642373_5642375delCTC	ENST00000344408.5	-	10	1389_1391	c.1336_1338delGAG	c.(1336-1338)gagdel	p.E446del	EVC2_ENST00000310917.2_In_Frame_Del_p.E366del|EVC2_ENST00000344938.1_In_Frame_Del_p.E446del	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	446					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E446G(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCGATCGTACTCCTCTTGTATT	0.438																																						ENST00000310917.2																			1	Substitution - Missense(1)	p.E446G(1)	kidney(1)	NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1096-1098)del		Ellis van Creveld syndrome 2																																				SO:0001651	inframe_deletion	132884					integral to membrane		g.chr4:5642373_5642375delCTC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1336_1338delGAG	4.37:g.5642376_5642378delCTC	ENSP00000342144:p.Glu446del					EVC2_ENST00000344408.5_In_Frame_Del_p.E446del|EVC2_ENST00000344938.1_In_Frame_Del_p.E446del	p.E366del	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			10	1827_1829	-			446					Q86YT3|Q86YT4|Q8NG49	In_Frame_Del	DEL	ENST00000344408.5	37	c.1096_1098delGAG	CCDS3382.2																																																																																				0.438	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		116	298						116	298	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26426292	26426293	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:26426292_26426293delGA	ENST00000361572.6	+	7	907_908	c.713_714delGA	c.(712-714)cgafs	p.R238fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.R203fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.R225fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.R223fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.R224fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	238					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTCACAGTCCGAGATGGCTACA	0.376																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(670-672)cfs		recombination signal binding protein for immunoglobulin kappa J region																																				SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426292_26426293delGA	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.713_714delGA	4.37:g.26426294_26426295delGA	ENSP00000354528:p.Arg238fs					RBPJ_ENST00000345843.3_Frame_Shift_Del_p.R223fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.R203fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.R225fs	p.R224fs			Q06330	SUH_HUMAN			7	847_848	+		Breast(46;0.0503)	238					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.671_672delGA	CCDS3437.1																																																																																				0.376	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		7	107						7	107	---	---	---	---
WDR19	57728	broad.mit.edu	37	4	39276459	39276462	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:39276459_39276462delTGAG	ENST00000399820.3	+	33	3751_3754	c.3597_3600delTGAG	c.(3595-3600)attgagfs	p.IE1199fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.IE1039fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1199					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CAACTGTGATTGAGTGTCACAGGG	0.49																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(3595-3600)atfs		WD repeat domain 19																																				SO:0001589	frameshift_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39276459_39276462delTGAG	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3597_3600delTGAG	4.37:g.39276459_39276462delTGAG	ENSP00000382717:p.Ile1199fs					WDR19_ENST00000288634.7_Frame_Shift_Del_p.IE1039fs	p.IE1199fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			33	3751_3754	+			1199					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Frame_Shift_Del	DEL	ENST00000399820.3	37	c.3597_3600delTGAG	CCDS47042.1																																																																																				0.490	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			16	240						16	240	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57204654	57204658	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-	rs112962387		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:57204654_57204658delGAGAA	ENST00000205214.6	-	15	3387_3391	c.3207_3211delTTCTC	c.(3205-3213)tcttctcctfs	p.SP1070fs	AASDH_ENST00000513376.1_Frame_Shift_Del_p.SP970fs|AASDH_ENST00000434343.2_Frame_Shift_Del_p.SP585fs|AASDH_ENST00000451613.1_3'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1070					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AGGACCACAGGAGAAGAGAAGACTT	0.4																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(3205-3213)tcctfs		aminoadipate-semialdehyde dehydrogenase																																				SO:0001589	frameshift_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57204654_57204658delGAGAA	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3207_3211delTTCTC	4.37:g.57204659_57204663delGAGAA	ENSP00000205214:p.Ser1070fs					AASDH_ENST00000434343.2_Frame_Shift_Del_p.SSP584fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.SSP969fs|AASDH_ENST00000451613.1_3'UTR	p.SSP1069fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			15	3387_3391	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	1069					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Del	DEL	ENST00000205214.6	37	c.3207_3211delTTCTC	CCDS3504.1																																																																																				0.400	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		25	104						25	104	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144468620	144468622	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:144468620_144468622delAAG	ENST00000283131.3	+	21	3198_3200	c.2736_2738delAAG	c.(2734-2739)caaaga>caa	p.R914del		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	914					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q912Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGAGAATTCAAAGAAGAATAAGC	0.389																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	1	Substitution - coding silent(1)	p.Q912Q(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2734-2739)caa>ca		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5																																				SO:0001651	inframe_deletion	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144468620_144468622delAAG	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2736_2738delAAG	4.37:g.144468623_144468625delAAG	ENSP00000283131:p.Arg914del						p.QR912del	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			21	3198_3200	+	all_hematologic(180;0.158)		912						In_Frame_Del	DEL	ENST00000283131.3	37	c.2736_2738delAAG	CCDS3761.1																																																																																				0.389	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			10	153						10	153	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772494	66772495	+	RNA	INS	-	-	T	rs113583073|rs570577444	byFrequency	TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:66772494_66772495insT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGCTTGATTCCTTTTTTTTTTT	0.426													|||unknown(HR)	843	0.168331	0.1596	0.1023	5008	,	,		24061	0.3006		0.1213	False		,,,				2504	0.1391					ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772494_66772495insT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772505_66772505dupT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	INS	ENST00000416602.2	37																																																																																						0.426	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		2	4						2	4	---	---	---	---
ZNF212	7988	broad.mit.edu	37	7	148947380	148947382	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:148947380_148947382delAGA	ENST00000335870.2	+	2	283_285	c.155_157delAGA	c.(154-159)gagaag>gag	p.K54del		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	54					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAGGCTGTGGAGAAGAAGATGGA	0.567																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(154-159)gag>g		zinc finger protein 212																																				SO:0001651	inframe_deletion	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947380_148947382delAGA	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.155_157delAGA	7.37:g.148947386_148947388delAGA	ENSP00000338572:p.Lys54del						p.EK52del	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	283_285	+	Melanoma(164;0.15)		52					B2RCF4|Q13396|Q8N664	In_Frame_Del	DEL	ENST00000335870.2	37	c.155_157delAGA	CCDS5896.1																																																																																				0.567	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		7	136						7	136	---	---	---	---
MAP3K8	1326	broad.mit.edu	37	10	30739449	30739452	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:30739449_30739452delGTAA	ENST00000263056.1	+	5	1462		c.e5+1		MAP3K8_ENST00000542547.1_Splice_Site|MAP3K8_ENST00000375321.1_Splice_Site	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8						cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GATATTAAACGTAAGTATCTTTGG	0.387																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.e5+1		mitogen-activated protein kinase kinase kinase 8																																				SO:0001630	splice_region_variant	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30739449_30739452delGTAA	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.766+1GTAA>-	10.37:g.30739449_30739452delGTAA						MAP3K8_ENST00000542547.1_Splice_Site|MAP3K8_ENST00000375321.1_Splice_Site		NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			5	1462	+		Prostate(175;0.151)						A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Splice_Site	DEL	ENST00000263056.1	37		CCDS7166.1																																																																																				0.387	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204	Intron	27	86						27	86	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114905777	114905780	+	Frame_Shift_Del	DEL	CAAC	CAAC	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:114905777_114905780delCAAC	ENST00000355995.4	+	8	1303_1306	c.796_799delCAAC	c.(796-801)caaccafs	p.QP266fs	TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Frame_Shift_Del_p.QP290fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000352065.5_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000534894.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000369395.1_Frame_Shift_Del_p.QP291fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000349937.2_Frame_Shift_Del_p.QP262fs|TCF7L2_ENST00000538897.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.QP266fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	266	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TAGGCAAGGTCAACCAGTGTACCC	0.505			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(796-801)cafs		transcription factor 7-like 2 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114905777_114905780delCAAC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.796_799delCAAC	10.37:g.114905777_114905780delCAAC	ENSP00000348274:p.Gln266fs					TCF7L2_ENST00000352065.5_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000369395.1_Frame_Shift_Del_p.QP291fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000349937.2_Frame_Shift_Del_p.QP262fs|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000538897.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000355717.4_Frame_Shift_Del_p.QP290fs|TCF7L2_ENST00000534894.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000355995.4_Frame_Shift_Del_p.QP266fs	p.QP266fs			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	8	1303_1306	+		Breast(234;0.058)|Colorectal(252;0.0615)	266			Mediates interaction with MAD2L2.|Pro-rich.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Del	DEL	ENST00000355995.4	37	c.796_799delCAAC																																																																																					0.505	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		21	243						21	243	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actactttafs	p.TL56fs	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	56	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(163-171)actafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123899_46123903delTACTT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.165_169delTACTT	12.37:g.46123899_46123903delTACTT	ENSP00000335044:p.Thr56fs					ARID2_ENST00000422737.1_5'UTR	p.TTL55fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	337_341	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	55			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.165_169delTACTT	CCDS31783.1																																																																																				0.537	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		30	83						30	83	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78515813	78515815	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:78515813_78515815delATT	ENST00000397909.2	+	16	4016_4018	c.3843_3845delATT	c.(3841-3846)acatta>aca	p.L1282del	NAV3_ENST00000228327.6_In_Frame_Del_p.L1282del|NAV3_ENST00000536525.2_In_Frame_Del_p.L1282del|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1282	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAGTACCACATTAGCGCGGCAA	0.562										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3841-3846)aca>ac		neuron navigator 3																																				SO:0001651	inframe_deletion	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515813_78515815delATT	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3843_3845delATT	12.37:g.78515813_78515815delATT	ENSP00000381007:p.Leu1282del	HNSCC(70;0.22)				NAV3_ENST00000536525.2_In_Frame_Del_p.TL1281del|NAV3_ENST00000228327.6_In_Frame_Del_p.TL1281del|NAV3_ENST00000266692.7_Intron	p.TL1281del			Q8IVL0	NAV3_HUMAN			16	4016_4018	+			1281			Ser-rich.		Q8NFW7|Q9Y2E7	In_Frame_Del	DEL	ENST00000397909.2	37	c.3843_3845delATT																																																																																					0.562	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	80						10	80	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72231199	72231199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:72231199delT	ENST00000356056.5	-	16	2844	c.2372delA	c.(2371-2373)aacfs	p.N791fs	MYO9A_ENST00000444904.1_Frame_Shift_Del_p.N772fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.N411fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	791	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACTGTTGGTTTTTTTCATT	0.303																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2371-2373)acfs		myosin IXA							70.0	71.0	71.0					15																	72231199		2199	4296	6495	SO:0001589	frameshift_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72231199delT	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2372delA	15.37:g.72231199delT	ENSP00000348349:p.Asn791fs					MYO9A_ENST00000566885.1_Frame_Shift_Del_p.N411fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.N772fs	p.N791fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			16	2844	-			791					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Frame_Shift_Del	DEL	ENST00000356056.5	37	c.2372delA	CCDS10239.1																																																																																				0.303	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		55	67						55	67	---	---	---	---
MLX	6945	broad.mit.edu	37	17	40722112	40722113	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:40722112_40722113delCA	ENST00000246912.4	+	7	804_805	c.751_752delCA	c.(751-753)cagfs	p.Q251fs	MLX_ENST00000435881.2_Frame_Shift_Del_p.Q197fs|MLX_ENST00000346833.4_Frame_Shift_Del_p.Q167fs	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	251					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTCCCTGTTCCAGTCCTTCAAT	0.55																																					GBM(121;657 1601 4665 24731 34640)	ENST00000246912.4																			0				kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(751-753)gfs		MLX, MAX dimerization protein																																				SO:0001589	frameshift_variant	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40722112_40722113delCA	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.751_752delCA	17.37:g.40722112_40722113delCA	ENSP00000246912:p.Gln251fs					MLX_ENST00000346833.4_Frame_Shift_Del_p.Q167fs|MLX_ENST00000435881.2_Frame_Shift_Del_p.Q197fs	p.Q251fs	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	7	804_805	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	251					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Frame_Shift_Del	DEL	ENST00000246912.4	37	c.751_752delCA	CCDS11430.1																																																																																				0.550	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		18	121						18	121	---	---	---	---
SLC9B1P1	100128190	broad.mit.edu	37	Y	13501672	13501674	+	In_Frame_Del	DEL	AAT	AAT	-	rs373544976		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrY:13501672_13501674delAAT	ENST00000331172.6	-	4	534_536	c.535_537delATT	c.(535-537)attdel	p.I179del				A6NJY1	SL9P1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1	164						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTTACCAACAATATTTGATTCA	0.241																																						ENST00000331172.6																			0											c.(535-537)del																																						SO:0001651	inframe_deletion	0							g.chrY:13501672_13501674delAAT			Yq11.21	2013-07-15	2012-03-22	2011-07-26	ENSG00000183704	ENSG00000183704		"""Solute carriers"""	37492	pseudogene	pseudogene			"""Na+/H+ exchanger domain containing 1 pseudogene 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 1"""	NHEDC1P1			Standard	NG_023008		Approved			A6NJY1		ENST00000331172.6:c.535_537delATT	Y.37:g.13501672_13501674delAAT	ENSP00000331938:p.Ile179del						p.I179del							4	534_536	-									In_Frame_Del	DEL	ENST00000331172.6	37	c.535_537delATT																																																																																					0.241	SLC9B1P1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NG_023008		3	6						3	6	---	---	---	---
