#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
CCT8	10694	broad.mit.edu	37	21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(256-258)aTt>aCt		chaperonin containing TCP1, subunit 8 (theta)							85.0	81.0	83.0					21																	30440001		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30440001A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.257T>C	21.37:g.30440001A>G	ENSP00000286788:p.Ile86Thr					CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR	p.I86T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	463	-			86					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.257T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708472	0.68615	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.14516	2.5;2.5;2.5	5.54	5.54	0.83059	.	0.351109	0.31145	N	0.008180	T	0.26484	0.0647	M	0.77820	2.39	0.53005	D	0.999965	P;B;P;B;B	0.40398	0.716;0.447;0.498;0.442;0.34	B;B;B;B;B	0.43867	0.355;0.434;0.355;0.241;0.113	T	0.03103	-1.1072	10	0.87932	D	0	-15.9753	15.9755	0.80060	1.0:0.0:0.0:0.0	.	13;67;86;86;86	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	T	86;86;67;13	ENSP00000286788:I86T;ENSP00000444984:I67T;ENSP00000442730:I13T	ENSP00000286788:I86T	I	-	2	0	CCT8	29361872	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.953000	0.93041	2.219000	0.72066	0.528000	0.53228	ATT		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			6	400	0	0	0	1	0	6	400				
PATZ1	23598	broad.mit.edu	37	22	31740382	31740382	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr22:31740382G>A	ENST00000266269.5	-	1	1836	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	PATZ1_ENST00000405309.3_Missense_Mutation_p.R403W|PATZ1_ENST00000351933.4_Missense_Mutation_p.R403W|PATZ1_ENST00000215919.3_Missense_Mutation_p.R403W|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	403					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TCATGGGACCGCACATGGTAG	0.592																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1207-1209)Cgg>Tgg		POZ (BTB) and AT hook containing zinc finger 1							103.0	97.0	99.0					22																	31740382		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740382G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1207C>T	22.37:g.31740382G>A	ENSP00000266269:p.Arg403Trp					PATZ1_ENST00000351933.4_Missense_Mutation_p.R403W|PATZ1_ENST00000215919.3_Missense_Mutation_p.R403W|PATZ1_ENST00000405309.3_Missense_Mutation_p.R403W	p.R403W	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1836	-			403					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1207C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970106	0.74246	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	4.94	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.992;0.999;0.992	T	0.51624	-0.8682	10	0.87932	D	0	-17.6064	12.412	0.55471	0.0:0.0:0.548:0.452	.	403;403;403;403	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	W	403	ENSP00000266269:R403W;ENSP00000384173:R403W;ENSP00000337520:R403W;ENSP00000215919:R403W	ENSP00000215919:R403W	R	-	1	2	PATZ1	30070382	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.161000	0.50747	0.431000	0.26258	-0.314000	0.08810	CGG		0.592	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	430	0	0	0	1	0	5	430				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		8	265	0	0	0	1	0	8	265				
FBN2	2201	broad.mit.edu	37	5	127622522	127622522	+	Silent	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:127622522T>C	ENST00000508053.1	-	61	7874	c.6900A>G	c.(6898-6900)gaA>gaG	p.E2300E	FBN2_ENST00000262464.4_Silent_p.E2300E			P35556	FBN2_HUMAN	fibrillin 2	2300	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGTGTAACCCTTCAGCACATT	0.433																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6898-6900)gaA>gaG		fibrillin 2							105.0	95.0	98.0					5																	127622522		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127622522T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6900A>G	5.37:g.127622522T>C						FBN2_ENST00000262464.4_Silent_p.E2300E	p.E2300E			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	61	7874	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2300			EGF-like 39; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.6900A>G	CCDS34222.1																																																																																				0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	220	0	0	0	1	0	5	220				
ABCC6	368	broad.mit.edu	37	16	16295884	16295884	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:16295884C>T	ENST00000205557.7	-	9	1179	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	384	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAGTGATGGCCGACCGCAAC	0.572																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1150-1152)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							101.0	85.0	91.0					16																	16295884		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16295884C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1150G>A	16.37:g.16295884C>T	ENSP00000205557:p.Ala384Thr					ABCC6_ENST00000574094.1_5'UTR	p.A384T	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	9	1179	-			384			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.1150G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.643369	0.67244	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.89485	-2.52;-2.52	4.33	4.33	0.51752	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.47093	U	0.000258	D	0.92899	0.7741	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93476	0.6823	10	0.66056	D	0.02	.	13.8144	0.63283	0.0:1.0:0.0:0.0	.	396;384	F5GWQ0;O95255	.;MRP6_HUMAN	T	384;384;396	ENSP00000205557:A384T;ENSP00000405002:A384T	ENSP00000205557:A384T	A	-	1	0	ABCC6	16203385	1.000000	0.71417	0.073000	0.20177	0.135000	0.20990	6.765000	0.74965	1.961000	0.56991	0.485000	0.47835	GCC		0.572	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			8	516	0	0	0	1	0	8	516				
HMGB1	3146	broad.mit.edu	37	13	31035512	31035512	+	Missense_Mutation	SNP	T	T	A	rs200836895	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:31035512T>A	ENST00000405805.1	-	5	1570	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR			P09429	HMGB1_HUMAN	high mobility group box 1	210	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCAtcatcttcttcttcat	0.378													T|||	6	0.00119808	0.003	0.0	5008	,	,		18295	0.0		0.0	False		,,,				2504	0.002					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(628-630)gaA>gaT		high mobility group box 1							20.0	25.0	23.0					13																	31035512		1894	4135	6029	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035512T>A	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.630A>T	13.37:g.31035512T>A	ENSP00000384678:p.Glu210Asp					HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR	p.E210D			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1570	-		Lung SC(185;0.0257)	210			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.630A>T	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336740	0.41398	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.68	-1.58	0.08479	Armadillo-like helical (1);	0.305542	0.22770	N	0.055856	T	0.33440	0.0863	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.02901	-1.1096	10	0.87932	D	0	.	4.5078	0.11896	0.474:0.2443:0.0:0.2817	.	171;210	B3KQ05;P09429	.;HMGB1_HUMAN	D	210	ENSP00000384678:E210D;ENSP00000343040:E210D;ENSP00000345347:E210D;ENSP00000382417:E210D	ENSP00000343040:E210D	E	-	3	2	HMGB1	29933512	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	0.152000	0.16302	-0.149000	0.11215	-0.276000	0.10085	GAA		0.378	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		5	194	0	0	0	1	0	5	194				
MYOG	4656	broad.mit.edu	37	1	203054698	203054698	+	Missense_Mutation	SNP	C	C	A	rs376105946		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:203054698C>A	ENST00000241651.4	-	1	466	c.392G>T	c.(391-393)cGc>cTc	p.R131L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	131	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GGCCTGGAGGCGCTCGATGTA	0.672																																						ENST00000241651.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						c.(391-393)cGc>cTc		myogenin (myogenic factor 4)							49.0	52.0	51.0					1																	203054698		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054698C>A	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.392G>T	1.37:g.203054698C>A	ENSP00000241651:p.Arg131Leu						p.R131L	NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN			1	466	-			131			Helix-loop-helix motif.		Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.392G>T	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730242	0.89390	.	.	ENSG00000122180	ENST00000241651	D	0.97888	-4.59	5.59	5.59	0.84812	Helix-loop-helix DNA-binding (5);	0.044747	0.85682	D	0.000000	D	0.95993	0.8695	N	0.02539	-0.55	0.58432	D	0.999997	D	0.61697	0.99	D	0.64042	0.921	D	0.98270	1.0503	10	0.72032	D	0.01	-5.3104	19.5985	0.95549	0.0:1.0:0.0:0.0	.	131	P15173	MYOG_HUMAN	L	131	ENSP00000241651:R131L	ENSP00000241651:R131L	R	-	2	0	MYOG	201321321	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.953000	0.56699	2.636000	0.89361	0.563000	0.77884	CGC		0.672	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		11	348	1	0	0.000978159	1	0.000994738	11	348				
INPP5K	51763	broad.mit.edu	37	17	1401275	1401275	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:1401275G>A	ENST00000421807.2	-	8	1306	c.918C>T	c.(916-918)taC>taT	p.Y306Y	INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000406424.4_Silent_p.Y230Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	306	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGCTGATGCCGTACGTCATGT	0.607																																						ENST00000406424.4																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(688-690)taC>taT		inositol polyphosphate-5-phosphatase K							153.0	135.0	141.0					17																	1401275		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1401275G>A		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.918C>T	17.37:g.1401275G>A						INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	p.Y230Y	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN			10	1550	-			306			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.690C>T	CCDS11004.1																																																																																				0.607	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			6	925	0	0	0	1	0	6	925				
DSCAM	1826	broad.mit.edu	37	21	41719747	41719747	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr21:41719747G>T	ENST00000400454.1	-	6	1537	c.1060C>A	c.(1060-1062)Ctc>Atc	p.L354I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	354	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGGGTTGAGGATTTCACCA	0.498																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1060-1062)Ctc>Atc		Down syndrome cell adhesion molecule							255.0	231.0	238.0					21																	41719747		1945	4149	6094	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719747G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1060C>A	21.37:g.41719747G>T	ENSP00000383303:p.Leu354Ile						p.L354I	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			6	1537	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	354			Ig-like C2-type 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1060C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	3.387	-0.125139	0.06795	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69685	-0.42;-0.42	5.47	4.58	0.56647	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.063203	0.64402	D	0.000008	T	0.35508	0.0934	N	0.02802	-0.49	0.35488	D	0.798751	B	0.02656	0.0	B	0.04013	0.001	T	0.37103	-0.9720	10	0.06494	T	0.89	.	9.3049	0.37870	0.0:0.1176:0.6028:0.2796	.	354	O60469	DSCAM_HUMAN	I	354;106	ENSP00000383303:L354I;ENSP00000385342:L106I	ENSP00000383303:L354I	L	-	1	0	DSCAM	40641617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.687000	0.61708	1.292000	0.44672	0.655000	0.94253	CTC		0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		53	1477	1	0	6.50621e-10	1	6.88893e-10	53	1477				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		arrestin, beta 2							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000572457.1_5'UTR	p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	515	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		13	66	0	0	0	1	0	13	66				
COX16	51241	broad.mit.edu	37	14	70826257	70826257	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:70826257G>A	ENST00000389912.6	-	1	191	c.48C>T	c.(46-48)ctC>ctT	p.L16L	RNU2-51P_ENST00000410708.1_RNA|COX16_ENST00000557612.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	16						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						CTCCATAGCCGAGAGTCTTGT	0.577																																						ENST00000389912.6																			0				large_intestine(1)|lung(2)	3						c.(46-48)ctC>ctT		COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)							88.0	75.0	79.0					14																	70826257		2203	4300	6503	SO:0001819	synonymous_variant	51241							g.chr14:70826257G>A	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.48C>T	14.37:g.70826257G>A						RP11-718G2.3_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	p.L16L	NM_016468.6	NP_057552.1					1	191	-								A6NDT5|A8K3X8	Silent	SNP	ENST00000389912.6	37	c.48C>T	CCDS9802.1																																																																																				0.577	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2	NM_016468		14	285	0	0	0	1	0	14	285				
B4GALNT2	124872	broad.mit.edu	37	17	47241557	47241557	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:47241557G>A	ENST00000300404.2	+	8	1113	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V292I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V266I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	352					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGACTTGACCGTAATAGTGGC	0.488																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1054-1056)Gta>Ata		beta-1,4-N-acetyl-galactosaminyl transferase 2							158.0	159.0	158.0					17																	47241557		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47241557G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1054G>A	17.37:g.47241557G>A	ENSP00000300404:p.Val352Ile					B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V266I|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V292I	p.V352I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		8	1113	+			352					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1054G>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975914	0.18736	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.74315	-0.83;-0.83;-0.83	5.58	4.58	0.56647	Glycosyl transferase, family 2 (1);	0.080378	0.49916	D	0.000126	T	0.47060	0.1425	N	0.11023	0.085	0.35557	D	0.804369	P;P	0.52170	0.945;0.951	B;B	0.41894	0.369;0.32	T	0.59553	-0.7433	10	0.05721	T	0.95	-17.6974	5.2716	0.15628	0.158:0.0:0.669:0.173	.	292;352	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	I	266;292;352	ENSP00000425510:V266I;ENSP00000377022:V292I;ENSP00000300404:V352I	ENSP00000300404:V352I	V	+	1	0	B4GALNT2	44596556	1.000000	0.71417	0.810000	0.32431	0.329000	0.28539	6.729000	0.74775	1.287000	0.44583	0.555000	0.69702	GTA		0.488	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		6	980	0	0	0	1	0	6	980				
IGHV3-13	28449	broad.mit.edu	37	14	106586383	106586383	+	RNA	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:106586383C>T	ENST00000390602.2	-	0	181									immunoglobulin heavy variable 3-13																		TCAGGGACCCCCCAGGCTGTA	0.562																																						ENST00000390602.2																			0																				98.0	96.0	97.0					14																	106586383		1867	4085	5952			0							g.chr14:106586383C>T	X92217		14q32.33	2012-02-08			ENSG00000211942	ENSG00000211942		"""Immunoglobulins / IGH locus"""	5581	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152295		14.37:g.106586383C>T														0	181	-									RNA	SNP	ENST00000390602.2	37																																																																																						0.562	IGHV3-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325683.1	NG_001019		6	855	0	0	0	1	0	6	855				
PTH1R	5745	broad.mit.edu	37	3	46939361	46939361	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:46939361G>A	ENST00000313049.5	+	4	533	c.330G>A	c.(328-330)ccG>ccA	p.P110P	PTH1R_ENST00000430002.2_Silent_p.P110P|PTH1R_ENST00000449590.1_Silent_p.P110P|PTH1R_ENST00000418619.1_Silent_p.P110P|PTH1R_ENST00000490109.1_3'UTR			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	110					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCTGTCTGCCGGAATGGGACC	0.572																																						ENST00000313049.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(328-330)ccG>ccA		parathyroid hormone 1 receptor							45.0	42.0	43.0					3																	46939361		2203	4300	6503	SO:0001819	synonymous_variant	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46939361G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.330G>A	3.37:g.46939361G>A						PTH1R_ENST00000449590.1_Silent_p.P110P|PTH1R_ENST00000430002.2_Silent_p.P110P|PTH1R_ENST00000418619.1_Silent_p.P110P|PTH1R_ENST00000490109.1_3'UTR	p.P110P			Q03431	PTH1R_HUMAN			4	533	+			110					Q2M1U3	Silent	SNP	ENST00000313049.5	37	c.330G>A	CCDS2747.1																																																																																				0.572	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		7	221	0	0	0	1	0	7	221				
SLC38A3	10991	broad.mit.edu	37	3	50252865	50252865	+	RNA	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:50252865T>C	ENST00000420502.1	+	0	500									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TCCATCCACCTGCTACTCAAG	0.587																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						90.0	92.0	91.0					3																	50252865		2019	4182	6201			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50252865T>C	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50252865T>C										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	500	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.587	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		9	482	0	0	0	1	0	9	482				
IQCJ	654502	broad.mit.edu	37	3	158983022	158983022	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:158983022G>A	ENST00000451172.1	+	5	415	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	IQCJ_ENST00000482126.1_Missense_Mutation_p.G77R|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	104										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GGCCCCTGTTGGGAAGATTCA	0.448																																						ENST00000482126.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15						c.(229-231)Ggg>Agg		IQ motif containing J							137.0	136.0	136.0					3																	158983022		1888	4112	6000	SO:0001583	missense	654502							g.chr3:158983022G>A	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.310G>A	3.37:g.158983022G>A	ENSP00000402153:p.Gly104Arg					IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G104R|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	p.G77R	NM_001197100.1	NP_001184029.1			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		4	334	+								B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.229G>A	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	G	9.817	1.184637	0.21870	.	.	ENSG00000214216	ENST00000451172;ENST00000482126	.	.	.	2.96	-0.843	0.10744	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.18524	-1.0334	8	0.52906	T	0.07	.	6.1096	0.20094	0.4729:0.0:0.5271:0.0	.	77;104	B7ZMM2;Q1A5X6	.;IQCJ_HUMAN	R	104;77	.	ENSP00000402153:G104R	G	+	1	0	IQCJ	160465716	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.860000	0.04272	-0.162000	0.10964	0.591000	0.81541	GGG		0.448	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		22	619	0	0	0	1	0	22	619				
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:67564228C>T	ENST00000528089.1	-	0	912							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGGAGCCCGCTGGTGCTCCC	0.627																																						ENST00000528089.1																			0																																																			0							g.chr11:67564228C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564228C>T														0	912	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.627	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			5	281	0	0	0	1	0	5	281				
AREL1	9870	broad.mit.edu	37	14	75139533	75139533	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:75139533C>T	ENST00000356357.4	-	11	1938		c.e11+1		AREL1_ENST00000557401.1_Splice_Site	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1						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)										ATTTTACCTACCGATTCCAAC	0.403																																						ENST00000356357.4																			0											c.e11+1		apoptosis resistant E3 ubiquitin protein ligase 1							148.0	141.0	143.0					14																	75139533		1881	4101	5982	SO:0001630	splice_region_variant	9870							g.chr14:75139533C>T	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.1422+1G>A	14.37:g.75139533C>T						AREL1_ENST00000557401.1_Splice_Site		NM_001039479.1	NP_001034568.1					11	1938	-								B4E2C7|Q7LDY1|Q8IYY9	Splice_Site	SNP	ENST00000356357.4	37		CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721070	0.68959	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0317	74209286	1.000000	0.71417	0.999000	0.59377	0.582000	0.36321	7.365000	0.79537	2.941000	0.99782	0.655000	0.94253	.		0.403	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821	Intron	8	847	0	0	0	1	0	8	847				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR758_ENST00000390227.1_RNA|MIR380_ENST00000362112.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR299_ENST00000385016.2_RNA|MIR329-1_ENST00000385028.1_RNA|MIR1197_ENST00000408818.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		11	979	0	0	0	1	0	11	979				
RET	5979	broad.mit.edu	37	10	43619215	43619215	+	Silent	SNP	C	C	T	rs373693875		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:43619215C>T	ENST00000355710.3	+	17	3130	c.2898C>T	c.(2896-2898)acC>acT	p.T966T	RET_ENST00000340058.5_Silent_p.T966T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	966	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T966T(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCTGAAGACCGGCCACCGGA	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - coding silent(1)	p.T966T(1)	ovary(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2896-2898)acC>acT		ret proto-oncogene	Sunitinib(DB01268)	C	,	1,4405	2.1+/-5.4	0,1,2202	77.0	80.0	79.0		2898,2898	-10.3	0.3	10		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	966/1073,966/1115	43619215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619215C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2898C>T	10.37:g.43619215C>T						RET_ENST00000340058.5_Silent_p.T966T	p.T966T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			17	3130	+		Ovarian(717;0.0423)	966			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.2898C>T	CCDS7200.1																																																																																				0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	502	0	0	0	1	0	6	502				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	662	0	0	0	1	0	7	662				
DNAH17	8632	broad.mit.edu	37	17	76497387	76497387	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:76497387G>A	ENST00000585328.1	-	35	5471	c.5347C>T	c.(5347-5349)Cgg>Tgg	p.R1783W	DNAH17_ENST00000389840.5_Missense_Mutation_p.R1774W|DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1774	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCGATGCCGGAGCTGGGCC	0.582																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5320-5322)Cgg>Tgg		dynein, axonemal, heavy chain 17							63.0	69.0	67.0					17																	76497387		2116	4261	6377	SO:0001583	missense	8632							g.chr17:76497387G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5347C>T	17.37:g.76497387G>A	ENSP00000465516:p.Arg1783Trp					DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R1783W	p.R1774W					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		35	5444	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5320C>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.230883	0.79688	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.57273	0.41	4.24	4.24	0.50183	.	.	.	.	.	D	0.85639	0.5743	H	0.99859	4.855	0.46774	D	0.999191	.	.	.	.	.	.	D	0.93069	0.6481	7	0.87932	D	0	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	.	.	.	W	1783;1774	ENSP00000374490:R1774W	ENSP00000300671:R1783W	R	-	1	2	DNAH17	74008982	0.998000	0.40836	0.990000	0.47175	0.971000	0.66376	2.578000	0.46051	2.067000	0.61834	0.448000	0.29417	CGG		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	257	0	0	0	1	0	4	257				
DCLK3	85443	broad.mit.edu	37	3	36778971	36778971	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:36778971C>G	ENST00000416516.2	-	2	1670	c.1180G>C	c.(1180-1182)Ggc>Cgc	p.G394R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTCCTTGCCCTTGAGTCTG	0.507																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1180-1182)Ggc>Cgc		doublecortin-like kinase 3							95.0	90.0	92.0					3																	36778971		2151	4259	6410	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36778971C>G	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1180G>C	3.37:g.36778971C>G	ENSP00000394484:p.Gly394Arg						p.G394R	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	1670	-			394			Protein kinase.			Missense_Mutation	SNP	ENST00000416516.2	37	c.1180G>C	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873415	0.91664	.	.	ENSG00000163673	ENST00000416516	T	0.64260	-0.09	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33346	N	0.005001	T	0.69931	0.3166	N	0.20445	0.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73662	-0.3912	10	0.87932	D	0	.	20.0957	0.97842	0.0:1.0:0.0:0.0	.	394	Q9C098	DCLK3_HUMAN	R	394	ENSP00000394484:G394R	ENSP00000394484:G394R	G	-	1	0	DCLK3	36753975	1.000000	0.71417	0.939000	0.37840	0.984000	0.73092	7.719000	0.84751	2.837000	0.97791	0.655000	0.94253	GGC		0.507	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		11	302	0	0	0	1	0	11	302				
ADAM20	8748	broad.mit.edu	37	14	70989431	70989431	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:70989431T>C	ENST00000256389.3	-	2	2438	c.2194A>G	c.(2194-2196)Atg>Gtg	p.M732V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	682					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		AATCCTTCCATGTTGTTCTTA	0.428																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(2194-2196)Atg>Gtg		ADAM metallopeptidase domain 20							326.0	262.0	284.0					14																	70989431		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989431T>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2194A>G	14.37:g.70989431T>C	ENSP00000256389:p.Met732Val					RP11-486O13.4_ENST00000556646.1_lincRNA	p.M732V	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2438	-			682					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2194A>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.880112	0.00537	.	.	ENSG00000134007	ENST00000256389	T	0.00840	5.63	1.25	-2.51	0.06365	.	2.670110	0.02477	N	0.088147	T	0.00552	0.0018	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48525	-0.9028	10	0.29301	T	0.29	.	0.0685	0.00019	0.2456:0.2078:0.2467:0.2999	.	682	O43506	ADA20_HUMAN	V	732	ENSP00000256389:M732V	ENSP00000256389:M732V	M	-	1	0	ADAM20	70059184	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.248000	0.08854	-1.342000	0.02222	-0.281000	0.10026	ATG		0.428	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			6	796	0	0	0	1	0	6	796				
VIPAS39	63894	broad.mit.edu	37	14	77917637	77917637	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:77917637C>T	ENST00000553888.1	-	4	746	c.236G>A	c.(235-237)gGc>gAc	p.G79D	VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	79					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GTGGGTTGAGCCGCTATTACC	0.483																																						ENST00000553888.1																			0											c.(235-237)gGc>gAc		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							259.0	204.0	222.0					14																	77917637		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917637C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.236G>A	14.37:g.77917637C>T	ENSP00000452181:p.Gly79Asp					VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D	p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	746	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.236G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757142	0.15846	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.49	3.61	0.41365	.	0.314327	0.39341	N	0.001386	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B	0.30563	0.285	B	0.25614	0.062	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.793	11.3804	0.49754	0.2533:0.6245:0.1221:0.0	.	79	Q9H9C1	VIPAR_HUMAN	D	79;79;79;79;105	ENSP00000339122:G79D;ENSP00000452181:G79D;ENSP00000313098:G79D;ENSP00000452191:G79D;ENSP00000451857:G105D	ENSP00000313098:G79D	G	-	2	0	VIPAR	76987390	0.000000	0.05858	0.098000	0.21074	0.017000	0.09413	0.922000	0.28734	0.635000	0.30488	0.563000	0.77884	GGC		0.483	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		7	968	0	0	0	1	0	7	968				
TTN	7273	broad.mit.edu	37	2	179665290	179665290	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:179665290G>A	ENST00000591111.1	-	4	639	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TTN_ENST00000342992.6_Missense_Mutation_p.R139W|TTN_ENST00000359218.5_Missense_Mutation_p.R139W|TTN_ENST00000589042.1_Missense_Mutation_p.R139W|TTN_ENST00000360870.5_Missense_Mutation_p.R139W|TTN_ENST00000460472.2_Missense_Mutation_p.R139W|TTN_ENST00000342175.6_Missense_Mutation_p.R139W			Q8WZ42	TITIN_HUMAN	titin	32757	Ig-like 2.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCCATCCCGGTAGAACTTC	0.507																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(415-417)Cgg>Tgg		titin							141.0	125.0	130.0					2																	179665290		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179665290G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.415C>T	2.37:g.179665290G>A	ENSP00000465570:p.Arg139Trp					TTN_ENST00000360870.5_Missense_Mutation_p.R139W|TTN_ENST00000359218.5_Missense_Mutation_p.R139W|TTN_ENST00000342992.6_Missense_Mutation_p.R139W|TTN_ENST00000591111.1_Missense_Mutation_p.R139W|TTN_ENST00000342175.6_Missense_Mutation_p.R139W|TTN_ENST00000460472.2_Missense_Mutation_p.R139W	p.R139W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		4	639	-			139			Ig-like 2.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.415C>T		.	.	.	.	.	.	.	.	.	.	G	12.90	2.075918	0.36662	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.95	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71307	0.3324	M	0.94101	3.495	0.32590	N	0.527269	P;B;B;B;P	0.52463	0.55;0.316;0.316;0.316;0.953	B;B;B;B;B	0.34536	0.058;0.062;0.062;0.062;0.185	T	0.82110	-0.0619	9	0.87932	D	0	.	7.1196	0.25437	0.1404:0.0:0.7199:0.1397	.	139;139;139;139;139	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	W	139	ENSP00000343764:R139W;ENSP00000434586:R139W;ENSP00000340554:R139W;ENSP00000352154:R139W;ENSP00000354117:R139W	ENSP00000340554:R139W	R	-	1	2	TTN	179373535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.408000	0.52651	1.534000	0.49203	0.563000	0.77884	CGG		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	614	0	0	0	1	0	6	614				
HIST1H1E	3008	broad.mit.edu	37	6	26156981	26156981	+	Missense_Mutation	SNP	A	A	T	rs142089484		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:26156981A>T	ENST00000304218.3	+	1	423	c.363A>T	c.(361-363)aaA>aaT	p.K121N	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	121					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTAAGGCTAAAAAGGCAGGCG	0.642																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(361-363)aaA>aaT		histone cluster 1, H1e							21.0	28.0	25.0					6																	26156981		2203	4300	6503	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156981A>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.363A>T	6.37:g.26156981A>T	ENSP00000307705:p.Lys121Asn						p.K121N	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	423	+			121					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.363A>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370645	0.24771	.	.	ENSG00000168298	ENST00000304218	T	0.17213	2.29	5.51	0.827	0.18835	.	0.259165	0.31922	N	0.006841	T	0.07188	0.0182	L	0.48642	1.525	0.45594	D	0.998531	B	0.20780	0.048	B	0.22601	0.04	T	0.13575	-1.0504	10	0.62326	D	0.03	-1.6611	11.6754	0.51427	0.3088:0.0:0.6912:0.0	.	121	P10412	H14_HUMAN	N	121	ENSP00000307705:K121N	ENSP00000307705:K121N	K	+	3	2	HIST1H1E	26264960	0.415000	0.25416	0.915000	0.36163	0.104000	0.19210	-0.038000	0.12144	0.146000	0.19002	0.459000	0.35465	AAA		0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		17	160	0	0	0	1	0	17	160				
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						ENST00000375050.4																			3	Substitution - Missense(3)	p.Y262F(3)	lung(3)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(784-786)tAt>tTt		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe						p.Y262F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			5	1055	-			262					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			4	90	0	0	0	1	0	4	90				
KLHL36	79786	broad.mit.edu	37	16	84695471	84695471	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:84695471G>A	ENST00000564996.1	+	5	1724	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	KLHL36_ENST00000258157.5_Missense_Mutation_p.R465H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	528					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGACCCGCGTGGCGCCG	0.657																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1582-1584)cGc>cAc		kelch-like family member 36							38.0	34.0	35.0					16																	84695471		2198	4299	6497	SO:0001583	missense	79786							g.chr16:84695471G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1583G>A	16.37:g.84695471G>A	ENSP00000456743:p.Arg528His					KLHL36_ENST00000258157.5_Missense_Mutation_p.R465H	p.R528H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1724	+			528					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.1583G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510497	0.27036	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.79141	-1.24	5.49	4.53	0.55603	Kelch-type beta propeller (1);	0.191880	0.44902	D	0.000404	T	0.68769	0.3037	L	0.49699	1.58	0.41194	D	0.986323	P;P	0.46457	0.477;0.878	B;B	0.36845	0.03;0.234	T	0.67452	-0.5667	10	0.15952	T	0.53	.	15.5063	0.75743	0.0:0.1386:0.8614:0.0	.	465;528	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	H	528;465	ENSP00000258157:R465H	ENSP00000258157:R465H	R	+	2	0	KLHL36	83252972	0.295000	0.24389	0.994000	0.49952	0.993000	0.82548	2.535000	0.45685	1.311000	0.45024	-0.165000	0.13383	CGC		0.657	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			15	125	0	0	0	1	0	15	125				
CYP1A1	1543	broad.mit.edu	37	15	75013810	75013810	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:75013810G>A	ENST00000379727.3	-	4	1185	c.987C>T	c.(985-987)agC>agT	p.S329S	CYP1A1_ENST00000395049.4_Silent_p.S329S|CYP1A1_ENST00000567032.1_Silent_p.S329S|CYP1A1_ENST00000395048.2_Silent_p.S329S|CYP1A1_ENST00000564596.1_Silent_p.S68S			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	329					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AATACATGAGGCTCCAGGAGA	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(985-987)agC>agT		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						98.0	86.0	90.0					15																	75013810		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013810G>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.987C>T	15.37:g.75013810G>A						CYP1A1_ENST00000567032.1_Silent_p.S329S|CYP1A1_ENST00000395049.4_Silent_p.S329S|CYP1A1_ENST00000395048.2_Silent_p.S329S|CYP1A1_ENST00000564596.1_Silent_p.S68S	p.S329S			P04798	CP1A1_HUMAN			4	1185	-			329					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.987C>T	CCDS10268.1																																																																																				0.542	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		43	265	0	0	0	1	0	43	265				
MCM2	4171	broad.mit.edu	37	3	127323603	127323603	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:127323603G>A	ENST00000265056.7	+	3	633	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	130	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGCCTGGGCCGCATGCGCCGT	0.677																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(388-390)cGc>cAc		minichromosome maintenance complex component 2							14.0	17.0	16.0					3																	127323603		2197	4279	6476	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127323603G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.389G>A	3.37:g.127323603G>A	ENSP00000265056:p.Arg130His						p.R130H	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			3	633	+			130			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.389G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926833	0.92319	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000480910	T;T	0.25912	1.77;1.85	5.29	5.29	0.74685	.	0.189022	0.47455	D	0.000232	T	0.49712	0.1573	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.48703	-0.9012	10	0.59425	D	0.04	-29.7498	18.9442	0.92615	0.0:0.0:1.0:0.0	.	130	P49736	MCM2_HUMAN	H	130;34;121	ENSP00000265056:R130H;ENSP00000419802:R121H	ENSP00000265056:R130H	R	+	2	0	MCM2	128806293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.766000	0.98957	2.466000	0.83321	0.591000	0.81541	CGC		0.677	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			4	85	0	0	0	1	0	4	85				
MUC5B	727897	broad.mit.edu	37	11	1269953	1269953	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:1269953T>C	ENST00000529681.1	+	31	11901	c.11843T>C	c.(11842-11844)aTc>aCc	p.I3948T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.I3951T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3948	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ccatcactgatcaccacggcc	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11851-11853)aTc>aCc		mucin 5B, oligomeric mucus/gel-forming							142.0	172.0	162.0					11																	1269953		2050	4055	6105	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269953T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11843T>C	11.37:g.1269953T>C	ENSP00000436812:p.Ile3948Thr					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.I3948T	p.I3951T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11910	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3948			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11852T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	2.962	-0.214480	0.06101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.21191	2.02;2.21	2.72	-1.46	0.08800	.	.	.	.	.	T	0.03434	0.0099	N	0.00082	-2.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	9	0.87932	D	0	.	2.2978	0.04154	0.1875:0.5009:0.1845:0.1271	.	3951	E9PBJ0	.	T	3948;3951;3892	ENSP00000436812:I3948T;ENSP00000415793:I3951T	ENSP00000343037:I3892T	I	+	2	0	MUC5B	1226529	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.432000	0.21461	-0.135000	0.11495	-0.817000	0.03123	ATC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	65	0	0	0	1	0	4	65				
SPECC1	92521	broad.mit.edu	37	17	20108795	20108795	+	Missense_Mutation	SNP	G	G	T	rs377027470	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:20108795G>T	ENST00000261503.5	+	4	1484	c.1433G>T	c.(1432-1434)cGc>cTc	p.R478L	SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395530.2_Missense_Mutation_p.R397L|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.R478L|SPECC1_ENST00000395522.2_Missense_Mutation_p.R397L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.R478L|SPECC1_ENST00000395525.3_Missense_Mutation_p.R397L	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	478					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GAACAGGGCCGCTTTGAAAGA	0.428																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1189-1191)cGc>cTc		sperm antigen with calponin homology and coiled-coil domains 1							67.0	69.0	69.0					17																	20108795		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108795G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1433G>T	17.37:g.20108795G>T	ENSP00000261503:p.Arg478Leu					SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.R397L|SPECC1_ENST00000395525.3_Missense_Mutation_p.R397L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.R478L|SPECC1_ENST00000261503.5_Missense_Mutation_p.R478L|SPECC1_ENST00000395527.4_Missense_Mutation_p.R478L	p.R397L	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1398	+			478					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1190G>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648633	0.67358	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.32	2.98	0.34508	.	0.213897	0.51477	D	0.000098	T	0.13072	0.0317	L	0.61218	1.895	0.80722	D	1	P;P;P;P;P	0.51449	0.83;0.558;0.873;0.873;0.945	P;B;B;B;P	0.50136	0.454;0.243;0.446;0.446;0.632	T	0.01294	-1.1393	10	0.87932	D	0	-13.0972	5.2139	0.15332	0.3443:0.0:0.6557:0.0	.	478;397;397;478;478	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	L	478;478;478;397;397;397	ENSP00000261503:R478L;ENSP00000378900:R478L;ENSP00000378893:R397L;ENSP00000378896:R397L	ENSP00000261503:R478L	R	+	2	0	SPECC1	20049387	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.341000	0.52151	1.390000	0.46547	0.655000	0.94253	CGC		0.428	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		16	413	1	0	7.07596e-05	1	7.23678e-05	16	413				
ROBO2	6092	broad.mit.edu	37	3	77645801	77645801	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:77645801T>A	ENST00000461745.1	+	19	3654	c.2754T>A	c.(2752-2754)gaT>gaA	p.D918E	ROBO2_ENST00000487694.3_Missense_Mutation_p.D934E|ROBO2_ENST00000332191.8_Missense_Mutation_p.D918E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	918					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGCTGGTGATCCCAGCTATC	0.453																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2752-2754)gaT>gaA		roundabout, axon guidance receptor, homolog 2 (Drosophila)							146.0	142.0	143.0					3																	77645801		1864	4115	5979	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77645801T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2754T>A	3.37:g.77645801T>A	ENSP00000417164:p.Asp918Glu					ROBO2_ENST00000487694.3_Missense_Mutation_p.D934E|ROBO2_ENST00000332191.8_Missense_Mutation_p.D918E	p.D918E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	19	3654	+			918					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2754T>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.143|3.143	-0.175813|-0.175813	0.06421|0.06421	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|.	0.60797|.	0.16;0.2;0.19|.	6.16|6.16	-1.95|-1.95	0.07548|0.07548	.|.	0.000000|.	0.47455|.	D|.	0.000239|.	T|T	0.36552|0.36552	0.0971|0.0971	L|L	0.27053|0.27053	0.805|0.805	.|.	.|.	.|.	P;D;P|.	0.58620|.	0.938;0.983;0.863|.	P;P;P|.	0.56434|.	0.53;0.798;0.53|.	T|T	0.47674|0.47674	-0.9099|-0.9099	9|4	0.02654|.	T|.	1|.	.|.	11.9401|11.9401	0.52896|0.52896	0.0:0.5711:0.0:0.4289|0.0:0.5711:0.0:0.4289	.|.	934;918;918|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	E|N	934;934;938;918;918|75	ENSP00000417335:D934E;ENSP00000417164:D918E;ENSP00000327536:D918E|.	ENSP00000327536:D918E|.	D|I	+|+	3|2	2|0	ROBO2|ROBO2	77728491|77728491	0.834000|0.834000	0.29399|0.29399	0.993000|0.993000	0.49108|0.49108	0.901000|0.901000	0.52897|0.52897	-0.043000|-0.043000	0.12043|0.12043	-0.265000|-0.265000	0.09352|0.09352	0.528000|0.528000	0.53228|0.53228	GAT|ATC		0.453	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		85	605	0	0	0	1	0	85	605				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	552	0	0	0	1	0	6	552				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	276	0	0	0	1	0	5	276				
TMC7	79905	broad.mit.edu	37	16	19067868	19067868	+	Missense_Mutation	SNP	C	C	T	rs199702842		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:19067868C>T	ENST00000304381.5	+	14	2006	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	TMC7_ENST00000569532.1_Missense_Mutation_p.P626S|TMC7_ENST00000421369.3_Missense_Mutation_p.P516S	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	626					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGCAGCATCCCTTCCTCGAA	0.577																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1546-1548)Cct>Tct		transmembrane channel-like 7							148.0	108.0	122.0					16																	19067868		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19067868C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1876C>T	16.37:g.19067868C>T	ENSP00000304710:p.Pro626Ser					TMC7_ENST00000569532.1_Missense_Mutation_p.P626S|TMC7_ENST00000304381.5_Missense_Mutation_p.P626S	p.P516S	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			14	2104	+			626					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1546C>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811986	0.32053	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.72505	-0.57;-0.66	5.8	5.8	0.92144	.	0.185456	0.48767	D	0.000161	T	0.66597	0.2805	L	0.53561	1.675	0.41300	D	0.987036	B;B	0.22211	0.066;0.057	B;B	0.20955	0.028;0.032	T	0.61676	-0.7014	10	0.33141	T	0.24	.	15.2269	0.73359	0.0:0.9311:0.0:0.0689	.	626;626	Q7Z402;B3KSZ3	TMC7_HUMAN;.	S	626;516	ENSP00000304710:P626S;ENSP00000397081:P516S	ENSP00000304710:P626S	P	+	1	0	TMC7	18975369	0.993000	0.37304	1.000000	0.80357	0.887000	0.51463	1.718000	0.38001	2.741000	0.93983	0.650000	0.86243	CCT		0.577	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		127	191	0	0	0	1	0	127	191				
HBP1	26959	broad.mit.edu	37	7	106822943	106822943	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:106822943C>A	ENST00000222574.4	+	3	481	c.295C>A	c.(295-297)Cca>Aca	p.P99T	HBP1_ENST00000485846.1_Missense_Mutation_p.P99T|HBP1_ENST00000468410.1_Missense_Mutation_p.P99T	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	99					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTCAGACATACCAGAAACTAC	0.428																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(295-297)Cca>Aca		HMG-box transcription factor 1							83.0	74.0	77.0					7																	106822943		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106822943C>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.295C>A	7.37:g.106822943C>A	ENSP00000222574:p.Pro99Thr					HBP1_ENST00000485846.1_Missense_Mutation_p.P99T|HBP1_ENST00000468410.1_Missense_Mutation_p.P99T	p.P99T	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			3	481	+			99					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.295C>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231434	0.39399	.	.	ENSG00000105856	ENST00000468410;ENST00000464009;ENST00000222574;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99005	-5.32;-5.32;-5.32	5.86	-0.71	0.11234	.	0.262100	0.33515	N	0.004821	D	0.93900	0.8048	N	0.08118	0	0.25791	N	0.984611	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.89009	0.3427	10	0.39692	T	0.17	-12.6153	5.9104	0.19025	0.1182:0.3496:0.0:0.5322	.	109;99;99	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	T	99;99;99;99;99;99;91	ENSP00000420500:P99T;ENSP00000222574:P99T;ENSP00000418738:P99T	ENSP00000222574:P99T	P	+	1	0	HBP1	106610179	0.937000	0.31787	0.966000	0.40874	0.987000	0.75469	-0.057000	0.11768	-0.348000	0.08286	-0.302000	0.09304	CCA		0.428	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		13	466	1	0	5.50884e-06	1	5.6988e-06	13	466				
PHF13	148479	broad.mit.edu	37	1	6681519	6681519	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:6681519C>T	ENST00000377648.4	+	4	1107	c.725C>T	c.(724-726)gCc>gTc	p.A242V	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	242	Interaction with trimethylated histone H3 (H3K4).				chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCCATTTGCCGGCCGCCCC	0.507																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(724-726)gCc>gTc		PHD finger protein 13							63.0	62.0	63.0					1																	6681519		2203	4300	6503	SO:0001583	missense	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6681519C>T	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.725C>T	1.37:g.6681519C>T	ENSP00000366876:p.Ala242Val					PHF13_ENST00000495385.1_Intron	p.A242V	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	4	1107	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	242			Interaction with trimethylated histone H3 (H3K4).		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	c.725C>T	CCDS85.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405517	0.96051	.	.	ENSG00000116273	ENST00000377648	T	0.63580	-0.05	5.59	5.59	0.84812	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.73430	2.235	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.76523	-0.2928	10	0.33940	T	0.23	-5.6521	18.5834	0.91180	0.0:1.0:0.0:0.0	.	242	Q86YI8	PHF13_HUMAN	V	242	ENSP00000366876:A242V	ENSP00000366876:A242V	A	+	2	0	PHF13	6604106	1.000000	0.71417	0.865000	0.33974	0.957000	0.61999	7.487000	0.81328	2.626000	0.88956	0.650000	0.86243	GCC		0.507	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		5	363	0	0	0	1	0	5	363				
MTMR8	55613	broad.mit.edu	37	X	63569828	63569828	+	Silent	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:63569828C>T	ENST00000374852.3	-	5	658	c.591G>A	c.(589-591)gaG>gaA	p.E197E	MTMR8_ENST00000453546.1_Silent_p.E197E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	197	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTACATTGTTCTCTTTGTAGA	0.403																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(589-591)gaG>gaA		myotubularin related protein 8							109.0	89.0	96.0					X																	63569828		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569828C>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.591G>A	X.37:g.63569828C>T						MTMR8_ENST00000453546.1_Silent_p.E197E	p.E197E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			5	658	-			197			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	c.591G>A	CCDS14379.1																																																																																				0.403	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		5	211	0	0	0	1	0	5	211				
EPS15	2060	broad.mit.edu	37	1	51910708	51910708	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:51910708G>A	ENST00000371733.3	-	11	903	c.807C>T	c.(805-807)tgC>tgT	p.C269C	EPS15_ENST00000371730.2_Silent_p.C269C	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	269	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCTTTGTGTCGCATAATGACC	0.388			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(805-807)tgC>tgT		epidermal growth factor receptor pathway substrate 15							112.0	100.0	104.0					1																	51910708		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51910708G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.807C>T	1.37:g.51910708G>A						EPS15_ENST00000371730.2_Silent_p.C269C	p.C269C	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			11	903	-			269			EH 3.		B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.807C>T	CCDS557.1																																																																																				0.388	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		5	432	0	0	0	1	0	5	432				
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	rs201025925		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	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						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					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.(886-888)Ggt>Agt		repetin							597.0	514.0	540.0					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	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.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		17	2387	0	0	0	1	0	17	2387				
HIST1H1E	3008	broad.mit.edu	37	6	26156982	26156982	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:26156982A>T	ENST00000304218.3	+	1	424	c.364A>T	c.(364-366)Aag>Tag	p.K122*	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	122					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TAAGGCTAAAAAGGCAGGCGC	0.647																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(364-366)Aag>Tag		histone cluster 1, H1e							20.0	27.0	25.0					6																	26156982		2203	4300	6503	SO:0001587	stop_gained	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156982A>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.364A>T	6.37:g.26156982A>T	ENSP00000307705:p.Lys122*						p.K122*	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	424	+			122					Q4VB25	Nonsense_Mutation	SNP	ENST00000304218.3	37	c.364A>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.457181	0.63401	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.51	5.51	0.81932	.	0.179237	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8522	15.075	0.72071	1.0:0.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000307705:K122X	K	+	1	0	HIST1H1E	26264961	0.793000	0.28825	0.941000	0.38009	0.097000	0.18754	3.053000	0.49901	2.207000	0.71202	0.459000	0.35465	AAG		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		18	156	0	0	0	1	0	18	156				
ATP6V0A2	23545	broad.mit.edu	37	12	124228837	124228837	+	Silent	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:124228837T>C	ENST00000330342.3	+	11	1527	c.1279T>C	c.(1279-1281)Ttg>Ctg	p.L427L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	427					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGCCCTCTTGTTGGTGTT	0.388																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1279-1281)Ttg>Ctg		ATPase, H+ transporting, lysosomal V0 subunit a2							193.0	171.0	178.0					12																	124228837		2203	4300	6503	SO:0001819	synonymous_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124228837T>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1279T>C	12.37:g.124228837T>C							p.L427L	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	11	1527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		427					A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	c.1279T>C	CCDS9254.1																																																																																				0.388	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		8	652	0	0	0	1	0	8	652				
YWHAE	7531	broad.mit.edu	37	17	1303373	1303373	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:1303373G>A	ENST00000264335.8	-	1	299	c.32C>T	c.(31-33)gCg>gTg	p.A11V	YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Missense_Mutation_p.A11V|YWHAE_ENST00000573026.1_Missense_Mutation_p.A11V|YWHAE_ENST00000498643.1_5'UTR	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	11					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.A11V(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GGCCAGCTTCGCCTGGTACAC	0.657			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		2	Substitution - Missense(2)	p.A11V(2)	large_intestine(2)	kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(31-33)gCg>gTg		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							68.0	66.0	66.0					17																	1303373		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1303373G>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.32C>T	17.37:g.1303373G>A	ENSP00000264335:p.Ala11Val					YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Missense_Mutation_p.A11V|YWHAE_ENST00000573026.1_Missense_Mutation_p.A11V|YWHAE_ENST00000498643.1_5'UTR	p.A11V	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	1	299	-			11					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.32C>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601860	0.96614	.	.	ENSG00000108953	ENST00000264335	T	0.57907	0.37	4.66	4.66	0.58398	14-3-3 domain (4);	0.068065	0.56097	U	0.000021	T	0.81322	0.4798	H	0.96633	3.855	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.87648	0.2526	10	0.87932	D	0	0.3675	15.0746	0.72066	0.0:0.0:1.0:0.0	.	11	P62258	1433E_HUMAN	V	11	ENSP00000264335:A11V	ENSP00000264335:A11V	A	-	2	0	YWHAE	1250123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.076000	0.71267	2.426000	0.82243	0.484000	0.47621	GCG		0.657	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		160	272	0	0	0	1	0	160	272				
LYPD6B	130576	broad.mit.edu	37	2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A	rs373317284		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:150071135G>A	ENST00000409029.1	+	7	665	c.463G>A	c.(463-465)Gta>Ata	p.V155I	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000409642.3_Missense_Mutation_p.V179I			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	155						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(535-537)Gta>Ata		LY6/PLAUR domain containing 6B		G	ILE/VAL	0,4126		0,0,2063	176.0	176.0	176.0		535	0.9	0.0	2		176	1,8403		0,1,4201	no	missense	LYPD6B	NM_177964.3	29	0,1,6264	AA,AG,GG		0.0119,0.0,0.0080	benign	179/208	150071135	1,12529	2063	4202	6265	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150071135G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.463G>A	2.37:g.150071135G>A	ENSP00000386650:p.Val155Ile					LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I	p.V179I	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			7	936	+			155					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.535G>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.245572	0.22796	0.0	1.19E-4	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.78	0.937	0.19494	.	0.357652	0.26983	N	0.021502	T	0.11922	0.0290	L	0.35723	1.085	0.09310	N	1	B;B	0.21821	0.035;0.061	B;B	0.16722	0.01;0.016	T	0.28586	-1.0039	9	.	.	.	-22.7644	10.208	0.43124	0.3397:0.0:0.6603:0.0	.	155;179	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	I	179;155;155;179	ENSP00000387077:V179I;ENSP00000386479:V155I;ENSP00000386650:V155I;ENSP00000280115:V179I	.	V	+	1	0	LYPD6B	149779381	0.832000	0.29368	0.002000	0.10522	0.186000	0.23388	1.506000	0.35747	0.113000	0.18004	-1.871000	0.00553	GTA		0.483	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		6	733	0	0	0	1	0	6	733				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|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	166	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)		p.S166S(4)		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)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	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.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	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.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S166S	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	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	295	0	0	0	1	0	5	295				
INTS6	26512	broad.mit.edu	37	13	51956195	51956195	+	Silent	SNP	A	A	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:51956195A>G	ENST00000311234.4	-	10	1717	c.1245T>C	c.(1243-1245)taT>taC	p.Y415Y	INTS6_ENST00000490542.1_Silent_p.Y99Y|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Silent_p.Y237Y|INTS6_ENST00000425000.1_Intron|INTS6_ENST00000398119.2_Silent_p.Y402Y	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	415					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTGTCTTCAAATAACTTTCAA	0.393																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1243-1245)taT>taC		integrator complex subunit 6							71.0	67.0	69.0					13																	51956195		2203	4300	6503	SO:0001819	synonymous_variant	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51956195A>G	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1245T>C	13.37:g.51956195A>G						INTS6_ENST00000497989.1_Silent_p.Y237Y|INTS6_ENST00000425000.1_Intron|INTS6_ENST00000490542.1_Silent_p.Y99Y|INTS6_ENST00000398119.2_Silent_p.Y402Y|INTS6_ENST00000463928.1_Intron	p.Y415Y	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	10	1717	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	415					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	37	c.1245T>C	CCDS9428.1																																																																																				0.393	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		12	292	0	0	0	1	0	12	292				
AKAP5	9495	broad.mit.edu	37	14	64935683	64935683	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:64935683G>C	ENST00000394718.4	+	2	949	c.571G>C	c.(571-573)Ggt>Cgt	p.G191R	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.G191R	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	191					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ACGGAAAGATGGTGATGAGGT	0.408																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(571-573)Ggt>Cgt		A kinase (PRKA) anchor protein 5							103.0	107.0	106.0					14																	64935683		2203	4300	6503	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64935683G>C	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.571G>C	14.37:g.64935683G>C	ENSP00000378207:p.Gly191Arg					ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.G191R|ZBTB25_ENST00000555220.1_Intron	p.G191R			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	1859	+			191					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.571G>C	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	6.225	0.409592	0.11812	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.29397	1.57;1.57	5.57	2.73	0.32206	.	0.569967	0.16654	N	0.205084	T	0.37046	0.0989	L	0.46157	1.445	0.09310	N	1	P	0.50443	0.935	P	0.52710	0.707	T	0.11446	-1.0587	10	0.66056	D	0.02	-1.9643	9.8993	0.41338	0.235:0.0:0.765:0.0	.	191	P24588	AKAP5_HUMAN	R	191	ENSP00000378207:G191R;ENSP00000315615:G191R	ENSP00000315615:G191R	G	+	1	0	AKAP5	64005436	0.000000	0.05858	0.007000	0.13788	0.093000	0.18481	-0.031000	0.12287	0.848000	0.35191	0.650000	0.86243	GGT		0.408	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			6	492	0	0	0	1	0	6	492				
ABCC2	1244	broad.mit.edu	37	10	101553424	101553424	+	Silent	SNP	G	G	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:101553424G>T	ENST00000370449.4	+	4	563	c.450G>T	c.(448-450)ctG>ctT	p.L150L	ABCC2_ENST00000370434.1_Silent_p.L150L|ABCC2_ENST00000496621.1_3'UTR	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	150					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L150L(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTCAGACTCTGATCCGGACAC	0.448																																						ENST00000370449.4																			1	Substitution - coding silent(1)	p.L150L(1)	NS(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(448-450)ctG>ctT		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						147.0	135.0	139.0					10																	101553424		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101553424G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.450G>T	10.37:g.101553424G>T						ABCC2_ENST00000370434.1_Silent_p.L150L|ABCC2_ENST00000496621.1_3'UTR	p.L150L	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	4	563	+		Colorectal(252;0.234)	150					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.450G>T	CCDS7484.1																																																																																				0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		125	178	1	0	6.44133e-54	1	6.98457e-54	125	178				
ISL1	3670	broad.mit.edu	37	5	50680467	50680467	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:50680467G>A	ENST00000230658.7	+	2	706	c.121G>A	c.(121-123)Gca>Aca	p.A41T	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Missense_Mutation_p.A41T	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	41	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ATGGCATGCGGCATGTTTGAA	0.418																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(121-123)Gca>Aca		ISL LIM homeobox 1							197.0	186.0	190.0					5																	50680467		1892	4124	6016	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50680467G>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.121G>A	5.37:g.50680467G>A	ENSP00000230658:p.Ala41Thr					ISL1_ENST00000511384.1_Missense_Mutation_p.A41T	p.A41T	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			2	706	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	41			LIM zinc-binding 1.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.121G>A	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982929	0.74474	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.88124	-2.34;-2.34	6.16	6.16	0.99307	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	L	0.27975	0.815	0.80722	D	1	P	0.47106	0.89	P	0.46339	0.513	D	0.85330	0.1089	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	41	P61371	ISL1_HUMAN	T	41	ENSP00000230658:A41T;ENSP00000422676:A41T	ENSP00000230658:A41T	A	+	1	0	ISL1	50716224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.827000	0.86722	2.937000	0.99478	0.650000	0.86243	GCA		0.418	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		7	994	0	0	0	1	0	7	994				
SOX10	6663	broad.mit.edu	37	22	38369614	38369614	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr22:38369614G>A	ENST00000396884.2	-	4	1571	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	SOX10_ENST00000360880.2_Missense_Mutation_p.P430L|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	430					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCTGCGAGGGCCCCATATA	0.637																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	ENST00000396884.2																			0				NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20						c.(1288-1290)cCc>cTc		SRY (sex determining region Y)-box 10							27.0	33.0	31.0					22																	38369614		2192	4294	6486	SO:0001583	missense	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38369614G>A		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1289C>T	22.37:g.38369614G>A	ENSP00000380093:p.Pro430Leu					POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.P430L|POLR2F_ENST00000407936.1_Intron	p.P430L	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN			4	1571	-	Melanoma(58;0.045)		430					B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	c.1289C>T	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643078	0.87859	.	.	ENSG00000100146	ENST00000396884;ENST00000360880	T;T	0.75938	-0.98;-0.98	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	D	0.88974	0.3403	10	0.66056	D	0.02	.	18.5523	0.91069	0.0:0.0:1.0:0.0	.	430	P56693	SOX10_HUMAN	L	430	ENSP00000380093:P430L;ENSP00000354130:P430L	ENSP00000354130:P430L	P	-	2	0	SOX10	36699560	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.471000	0.97696	2.387000	0.81309	0.455000	0.32223	CCC		0.637	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		11	282	0	0	0	1	0	11	282				
CRIPAK	285464	broad.mit.edu	37	4	1389313	1389313	+	Silent	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:1389313T>C	ENST00000324803.4	+	1	3974	c.1014T>C	c.(1012-1014)tgT>tgC	p.C338C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	338					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGCCGATGTGGAGTGCCCG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1012-1014)tgT>tgC		cysteine-rich PAK1 inhibitor							169.0	175.0	173.0					4																	1389313		2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389313T>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1014T>C	4.37:g.1389313T>C							p.C338C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3974	+			338					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.1014T>C	CCDS3349.1																																																																																				0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		12	1506	0	0	0	1	0	12	1506				
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		AGGAGTATGCCGAGGAGGAGG	0.512																																						ENST00000564451.1																			0																																																			0							g.chr16:90162579C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162579C>T						TUBB8P7_ENST00000567960.1_RNA								0	1932	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.512	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	581	0	0	0	1	0	8	581				
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs200185441		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8.0	11.0	10.0					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		5	81	0	0	0	1	0	5	81				
ADD2	119	broad.mit.edu	37	2	70903983	70903983	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:70903983G>A	ENST00000264436.4	-	13	1982	c.1538C>T	c.(1537-1539)gCg>gTg	p.A513V	ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V|ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	513					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGAGGCCCCGCTGACTTCAC	0.602																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1537-1539)gCg>gTg		adducin 2 (beta)							70.0	71.0	71.0					2																	70903983		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70903983G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1538C>T	2.37:g.70903983G>A	ENSP00000264436:p.Ala513Val					ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V|ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V	p.A513V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	1982	-			513					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1538C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220356	0.95139	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.82056	2.57	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.973;0.994;0.953;0.973;0.987;0.996	T	0.53620	-0.8413	10	0.87932	D	0	-23.7626	16.036	0.80628	0.0:0.0:1.0:0.0	.	529;513;207;513;513;513	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	V	513;513;513;207;513;207;513;529	ENSP00000264436:A513V;ENSP00000384677:A513V;ENSP00000347972:A513V;ENSP00000430243:A207V;ENSP00000388072:A513V;ENSP00000398112:A529V	ENSP00000264436:A513V	A	-	2	0	ADD2	70757491	1.000000	0.71417	0.573000	0.28510	0.967000	0.64934	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	GCG		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		6	499	0	0	0	1	0	6	499				
PRPF8	10594	broad.mit.edu	37	17	1563731	1563731	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:1563731A>G	ENST00000572621.1	-	29	5045	c.4780T>C	c.(4780-4782)Tgt>Cgt	p.C1594R	PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1594	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCACCTGACATAAGTCCATA	0.522																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4780-4782)Tgt>Cgt		pre-mRNA processing factor 8							348.0	357.0	354.0					17																	1563731		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563731A>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4780T>C	17.37:g.1563731A>G	ENSP00000460348:p.Cys1594Arg					PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R	p.C1594R			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	5045	-			1594					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4780T>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.727161	0.30593	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.81499	-1.5	5.95	5.95	0.96441	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.039639	0.85682	D	0.000000	D	0.90202	0.6937	M	0.85099	2.735	0.80722	D	1	D	0.54397	0.966	D	0.65140	0.932	D	0.91493	0.5213	10	0.72032	D	0.01	-27.9396	16.4159	0.83738	1.0:0.0:0.0:0.0	.	1594	Q6P2Q9	PRP8_HUMAN	R	1594;121	ENSP00000304350:C1594R	ENSP00000304350:C1594R	C	-	1	0	PRPF8	1510481	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.210000	0.95106	2.279000	0.76181	0.533000	0.62120	TGT		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			827	1280	0	0	0	1	0	827	1280				
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367486.3_Silent_p.T536T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T579T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCAACTACCCCCAAGG	0.647																																						ENST00000445192.2																			1	Substitution - coding silent(1)	p.T579T(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1735-1737)acT>acC		proteoglycan 4							88.0	91.0	90.0					1																	186276588		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276588T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1737T>C	1.37:g.186276588T>C						PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron	p.T579T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1782	+			579			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1737T>C	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		17	432	0	0	0	1	0	17	432				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	28	0	0	0	1	0	4	28				
UGT2B11	10720	broad.mit.edu	37	4	70070185	70070185	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:70070185G>T	ENST00000446444.1	-	5	1281	c.1273C>A	c.(1273-1275)Ctg>Atg	p.L425M	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	425					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATTCAGCAGGTCTGTACTC	0.413																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1273-1275)Ctg>Atg		UDP glucuronosyltransferase 2 family, polypeptide B11							193.0	183.0	186.0					4																	70070185		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070185G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1273C>A	4.37:g.70070185G>T	ENSP00000387683:p.Leu425Met					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.L425M	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			5	1281	-			425					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1273C>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	5.180	0.218686	0.09810	.	.	ENSG00000213759	ENST00000446444	T	0.72282	-0.64	1.96	-0.455	0.12193	.	0.104464	0.39274	U	0.001409	D	0.83487	0.5265	M	0.93594	3.435	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.74259	-0.3723	10	0.87932	D	0	.	6.684	0.23134	0.4896:0.0:0.5104:0.0	.	425	O75310	UDB11_HUMAN	M	425	ENSP00000387683:L425M	ENSP00000387683:L425M	L	-	1	2	UGT2B11	70104774	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-1.327000	0.02682	-0.343000	0.08351	-1.451000	0.01035	CTG		0.413	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	987	1	0	1.28384e-07	1	1.35141e-07	7	987				
AGAP5	729092	broad.mit.edu	37	10	75457349	75457349	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:75457349G>A	ENST00000374094.4	-	1	205	c.165C>T	c.(163-165)acC>acT	p.T55T	AGAP5_ENST00000443782.2_Silent_p.T55T|RP11-464F9.1_ENST00000399449.3_RNA|RP11-574K11.28_ENST00000580790.1_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	55					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T55T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CAACTTCAACGGTCACCTCAG	0.582																																						ENST00000443782.2																			1	Substitution - coding silent(1)	p.T55T(1)	endometrium(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(163-165)acC>acT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							136.0	120.0	125.0					10																	75457349		692	1591	2283	SO:0001819	synonymous_variant	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457349G>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.165C>T	10.37:g.75457349G>A						AGAP5_ENST00000374094.4_Silent_p.T55T|RP11-464F9.1_ENST00000399449.3_RNA	p.T55T			A6NIR3	AGAP5_HUMAN			1	290	-			55					A8MSN5	Silent	SNP	ENST00000374094.4	37	c.165C>T	CCDS44439.1																																																																																				0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		8	671	0	0	0	1	0	8	671				
GABRB3	2562	broad.mit.edu	37	15	26793020	26793020	+	Missense_Mutation	SNP	T	T	C	rs377215030		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:26793020T>C	ENST00000311550.5	-	9	1453	c.1342A>G	c.(1342-1344)Ata>Gta	p.I448V	GABRB3_ENST00000299267.4_Missense_Mutation_p.I448V|GABRB3_ENST00000400188.3_Missense_Mutation_p.I377V|GABRB3_ENST00000541819.2_Missense_Mutation_p.I504V|GABRB3_ENST00000545868.1_Missense_Mutation_p.I363V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	448					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCTGTCTATGGCATTCACA	0.428																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1510-1512)Ata>Gta		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	124.0	102.0	110.0		1342,1087,1129,1342	6.0	1.0	15		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	29,29,29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	448/474,363/389,377/403,448/474	26793020	1,13005	2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793020T>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1342A>G	15.37:g.26793020T>C	ENSP00000308725:p.Ile448Val					GABRB3_ENST00000400188.3_Missense_Mutation_p.I377V|GABRB3_ENST00000311550.5_Missense_Mutation_p.I448V|GABRB3_ENST00000545868.1_Missense_Mutation_p.I363V|GABRB3_ENST00000299267.4_Missense_Mutation_p.I448V	p.I504V			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	10	1612	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	448					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1510A>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594927	0.66219	0.0	1.16E-4	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93455	0.7912	M	0.80508	2.5	0.80722	D	1	P;P;P	0.43392	0.805;0.671;0.718	P;B;P	0.49597	0.616;0.254;0.447	D	0.93761	0.7067	10	0.59425	D	0.04	.	15.7393	0.77876	0.0:0.0:0.0:1.0	.	504;448;448	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	448;504;448;377;363	ENSP00000308725:I448V;ENSP00000442408:I504V;ENSP00000299267:I448V;ENSP00000383049:I377V;ENSP00000439169:I363V	ENSP00000299267:I448V	I	-	1	0	GABRB3	24344113	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.926000	0.87569	2.308000	0.77769	0.533000	0.62120	ATA		0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			19	499	0	0	0	1	0	19	499				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	189	0	0	0	1	0	5	189				
MAN1B1	11253	broad.mit.edu	37	9	139981660	139981660	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:139981660C>A	ENST00000371589.4	+	1	282	c.209C>A	c.(208-210)tCg>tAg	p.S70*	AL807752.1_ENST00000596585.1_5'Flank|MAN1B1_ENST00000474902.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	70					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CGGCGGCGCTCGTGCTGGAGG	0.721																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(208-210)tCg>tAg		mannosidase, alpha, class 1B, member 1							6.0	7.0	6.0					9																	139981660		2117	4164	6281	SO:0001587	stop_gained	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139981660C>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.209C>A	9.37:g.139981660C>A	ENSP00000360645:p.Ser70*						p.S70*	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	1	282	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	70					Q5VSG3|Q9BRS9|Q9Y5K7	Nonsense_Mutation	SNP	ENST00000371589.4	37	c.209C>A	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054181	0.93793	.	.	ENSG00000177239	ENST00000371589	.	.	.	3.34	2.43	0.29744	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3191	0.43756	0.0:0.8926:0.0:0.1074	.	.	.	.	X	70	.	ENSP00000360645:S70X	S	+	2	0	MAN1B1	139101481	0.878000	0.30173	0.999000	0.59377	0.966000	0.64601	0.715000	0.25822	1.862000	0.54008	0.455000	0.32223	TCG		0.721	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		3	57	1	0	0.00909568	1	0.00914649	3	57				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	502	0	0	0	1	0	14	502				
HOOK2	29911	broad.mit.edu	37	19	12875675	12875675	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:12875675G>A	ENST00000397668.3	-	20	1853	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.R592W	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	594	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCATGGCCCGCAAGTCCGCG	0.627											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1774-1776)Cgg>Tgg		hook microtubule-tethering protein 2							78.0	83.0	81.0					19																	12875675		2052	4184	6236	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12875675G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1780C>T	19.37:g.12875675G>A	ENSP00000380785:p.Arg594Trp		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_ENST00000397668.3_Missense_Mutation_p.R594W	p.R592W	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			19	1944	-			594			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1774C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384241	0.25031	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.20463	2.07;2.07	5.11	1.61	0.23674	.	0.307932	0.30401	N	0.009706	T	0.22244	0.0536	L	0.59436	1.845	0.32004	N	0.603013	B;B	0.16802	0.015;0.019	B;B	0.15052	0.007;0.012	T	0.21280	-1.0250	10	0.72032	D	0.01	-20.342	13.3693	0.60703	0.0:0.0:0.4636:0.5364	.	592;594	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	W	594;592	ENSP00000380785:R594W;ENSP00000264827:R592W	ENSP00000264827:R592W	R	-	1	2	HOOK2	12736675	1.000000	0.71417	0.978000	0.43139	0.171000	0.22731	0.962000	0.29280	0.146000	0.19002	-0.187000	0.12897	CGG		0.627	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		8	675	0	0	0	1	0	8	675				
SGSM2	9905	broad.mit.edu	37	17	2266324	2266324	+	Missense_Mutation	SNP	G	G	A	rs146045413		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:2266324G>A	ENST00000426855.2	+	6	743	c.568G>A	c.(568-570)Gat>Aat	p.D190N	SGSM2_ENST00000268989.3_Missense_Mutation_p.D190N|SGSM2_ENST00000574563.1_Missense_Mutation_p.D190N	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	190	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAAGACAGCCGATCACTACTG	0.627																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(568-570)Gat>Aat		small G protein signaling modulator 2		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	76.0	67.0	70.0		568,568	5.4	1.0	17	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SGSM2	NM_001098509.1,NM_014853.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	190/1007,190/1052	2266324	1,13005	2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2266324G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.568G>A	17.37:g.2266324G>A	ENSP00000415107:p.Asp190Asn					SGSM2_ENST00000574563.1_Missense_Mutation_p.D190N|SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Missense_Mutation_p.D190N	p.D190N	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	6	745	+			190			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.568G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368832	0.95900	0.0	1.16E-4	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11277	2.79;2.79	5.44	5.44	0.79542	RUN (1);	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.03193	-1.1062	10	0.52906	T	0.07	-16.4889	18.2505	0.90000	0.0:0.0:1.0:0.0	.	190;190;190	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	N	190	ENSP00000268989:D190N;ENSP00000415107:D190N	ENSP00000268989:D190N	D	+	1	0	SGSM2	2213074	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.869000	0.99810	2.550000	0.86006	0.462000	0.41574	GAT		0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		5	303	0	0	0	1	0	5	303				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			8	178	0	0	0	1	0	8	178				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	437	0	0	0	1	0	9	437				
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:49558229T>C	ENST00000597853.1	-	4	2923	c.52A>G	c.(52-54)Aca>Gca	p.T18A	CGB7_ENST00000356213.4_Missense_Mutation_p.T16A|CGB7_ENST00000596965.1_Missense_Mutation_p.T18A|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000593309.1_5'Flank			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	18			T -> A. {ECO:0000269|PubMed:11861891}.		apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T18A(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GATGCCCATGTCCCGCCCATG	0.657																																						ENST00000356213.4																			1	Substitution - Missense(1)	p.T18A(1)	urinary_tract(1)	lung(3)|urinary_tract(2)	5						c.(46-48)Aca>Gca		chorionic gonadotropin, beta polypeptide 7							89.0	66.0	74.0					19																	49558229		1504	2688	4192	SO:0001583	missense	94027							g.chr19:49558229T>C	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.52A>G	19.37:g.49558229T>C	ENSP00000470813:p.Thr18Ala					CGB7_ENST00000596965.1_Missense_Mutation_p.T18A|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000597853.1_Missense_Mutation_p.T18A	p.T16A						all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	4	2923	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000597853.1	37	c.46A>G	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.329503	0.00017	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.38240	1.15;1.15	2.0	-0.578	0.11724	.	0.889152	0.09527	N	0.790128	T	0.12902	0.0313	.	.	.	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.09377	0.002;0.004	T	0.31833	-0.9929	9	0.05959	T	0.93	-23.5242	4.4433	0.11584	0.0:0.6359:0.0:0.3641	.	16;48	F5H162;A6NKQ9	.;CGB1_HUMAN	A	18;16	ENSP00000366493:T18A;ENSP00000348545:T16A	ENSP00000348545:T16A	T	-	1	0	CGB7	54250041	0.077000	0.21312	0.016000	0.15963	0.012000	0.07955	0.596000	0.24044	0.011000	0.14865	-1.140000	0.01884	ACA		0.657	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		7	466	0	0	0	1	0	7	466				
LINC01347	731275	broad.mit.edu	37	1	243251439	243251439	+	lincRNA	SNP	T	T	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:243251439T>A	ENST00000417964.1	-	0	663																											aaaaaaaaaaTTCCTTTGGGA	0.458																																						ENST00000417964.1																			0																																																			0							g.chr1:243251439T>A																													1.37:g.243251439T>A														0	663	-									RNA	SNP	ENST00000417964.1	37																																																																																						0.458	RP11-261C10.3-006	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096168.1			5	11	0	0	0	1	0	5	11				
UBB	7314	broad.mit.edu	37	17	16285638	16285638	+	Silent	SNP	G	G	A	rs534325931		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:16285638G>A	ENST00000395837.1	+	2	598	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.K139K	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		24534	0.001		0.0	False		,,,				2504	0.0				Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)aaG>aaA		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285638G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.417G>A	17.37:g.16285638G>A						UBB_ENST00000395837.1_Silent_p.K139K|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	p.K139K	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	809	+			139			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.417G>A	CCDS11177.1																																																																																				0.567	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		7	504	0	0	0	1	0	7	504				
TMEM132E	124842	broad.mit.edu	37	17	32957064	32957064	+	Missense_Mutation	SNP	G	G	A	rs368041322		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:32957064G>A	ENST00000321639.5	+	6	1434	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	369						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGACTGGCCGGACAGTGGCC	0.577																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1105-1107)cGg>cAg		transmembrane protein 132E		G	GLN/ARG	0,4406		0,0,2203	109.0	74.0	86.0		1106	4.8	0.9	17		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132E	NM_207313.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	369/985	32957064	1,13005	2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32957064G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1106G>A	17.37:g.32957064G>A	ENSP00000316532:p.Arg369Gln						p.R369Q	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1434	+			369					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1106G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170261	0.78452	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.25250	1.81	4.8	4.8	0.61643	.	0.112178	0.64402	D	0.000009	T	0.47507	0.1449	M	0.69358	2.11	0.58432	D	0.999999	D	0.76494	0.999	D	0.64237	0.923	T	0.35450	-0.9788	10	0.41790	T	0.15	-29.2691	17.4099	0.87482	0.0:0.0:1.0:0.0	.	369	Q6IEE7	T132E_HUMAN	Q	369	ENSP00000316532:R369Q	ENSP00000316532:R369Q	R	+	2	0	TMEM132E	29981177	1.000000	0.71417	0.877000	0.34402	0.577000	0.36160	6.537000	0.73847	2.677000	0.91161	0.551000	0.68910	CGG		0.577	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		4	176	0	0	0	1	0	4	176				
MUC5B	727897	broad.mit.edu	37	11	1266204	1266204	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:1266204G>A	ENST00000529681.1	+	31	8152	c.8094G>A	c.(8092-8094)acG>acA	p.T2698T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2701T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2698	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctacgatcacggccaccggct	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8101-8103)acG>acA		mucin 5B, oligomeric mucus/gel-forming							16.0	28.0	24.0					11																	1266204		1720	3791	5511	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266204G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8094G>A	11.37:g.1266204G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2698T	p.T2701T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8161	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2698	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8103G>A	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	32	0	0	0	1	0	3	32				
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:1921002C>T	ENST00000399161.2	-	11	2340	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	MYT1L_ENST00000428368.2_Silent_p.P529P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P531P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCTTTGTGCGGGCATCCGG	0.562																																						ENST00000399161.2																			2	Substitution - coding silent(2)	p.P531P(2)	lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1591-1593)ccG>ccA		myelin transcription factor 1-like							192.0	200.0	197.0					2																	1921002		2038	4190	6228	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1921002C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1593G>A	2.37:g.1921002C>T						MYT1L_ENST00000428368.2_Silent_p.P529P	p.P531P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	11	2340	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	531					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1593G>A																																																																																					0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		7	879	0	0	0	1	0	7	879				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|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	167	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)		p.S167S(19)		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	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	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.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>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.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S167S	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	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	298	0	0	0	1	0	6	298				
LRTM1	57408	broad.mit.edu	37	3	54952583	54952583	+	Missense_Mutation	SNP	G	G	A	rs200474589		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:54952583G>A	ENST00000273286.5	-	3	1103	c.941C>T	c.(940-942)gCg>gTg	p.A314V	CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A238V|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	314						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGTGATTGCCGCATAGGTGCA	0.532																																						ENST00000273286.5																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21						c.(940-942)gCg>gTg		leucine-rich repeats and transmembrane domains 1							153.0	129.0	137.0					3																	54952583		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54952583G>A	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.941C>T	3.37:g.54952583G>A	ENSP00000273286:p.Ala314Val					CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A238V|CACNA2D3_ENST00000288197.5_Intron	p.A314V	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	3	1103	-			314					Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.941C>T	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183808	0.78677	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.64260	-0.09;0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.82056	0.4954	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84082	0.0385	10	0.87932	D	0	.	19.6909	0.96000	0.0:0.0:1.0:0.0	.	314	Q9HBL6	LRTM1_HUMAN	V	314;238	ENSP00000273286:A314V;ENSP00000419772:A238V	ENSP00000273286:A314V	A	-	2	0	LRTM1	54927623	1.000000	0.71417	0.866000	0.34008	0.221000	0.24807	9.471000	0.97696	2.643000	0.89663	0.561000	0.74099	GCG		0.532	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		7	807	0	0	0	1	0	7	807				
HNRNPA0	10949	broad.mit.edu	37	5	137089489	137089489	+	Silent	SNP	C	C	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:137089489C>A	ENST00000314940.4	-	1	550	c.267G>T	c.(265-267)gcG>gcT	p.A89A		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	89					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCGGGCCGCGCCGAATCCT	0.657																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(265-267)gcG>gcT		heterogeneous nuclear ribonucleoprotein A0							53.0	57.0	55.0					5																	137089489		2203	4300	6503	SO:0001819	synonymous_variant	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089489C>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.267G>T	5.37:g.137089489C>A							p.A89A	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	550	-			89					Q6IB18	Silent	SNP	ENST00000314940.4	37	c.267G>T	CCDS4193.1																																																																																				0.657	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		11	537	1	0	6.40141e-05	1	6.58431e-05	11	537				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			6	351	0	0	0	1	0	6	351				
ZGPAT	84619	broad.mit.edu	37	20	62340496	62340496	+	Silent	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:62340496C>T	ENST00000328969.5	+	2	691	c.564C>T	c.(562-564)tgC>tgT	p.C188C	ZGPAT_ENST00000357119.4_Silent_p.C188C|ARFRP1_ENST00000324228.2_5'Flank|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.A94V|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000448100.2_Silent_p.C188C|ZGPAT_ENST00000369967.3_Silent_p.C188C|ZGPAT_ENST00000355969.6_Silent_p.C188C|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000478385.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	188				C -> R (in Ref. 3; BAC11317). {ECO:0000305}.	negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGGAAAGTGCCGCTTTAAGG	0.602																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(562-564)tgC>tgT		zinc finger, CCCH-type with G patch domain							81.0	82.0	82.0					20																	62340496		2203	4300	6503	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340496C>T	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.564C>T	20.37:g.62340496C>T						ZGPAT_ENST00000355969.6_Silent_p.C188C|ZGPAT_ENST00000448100.1_Silent_p.C188C|ZGPAT_ENST00000357119.4_Silent_p.C188C|ZGPAT_ENST00000369967.3_Silent_p.C188C|ZGPAT_ENST00000490623.1_3'UTR	p.C188C	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			2	691	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		188	C -> R (in Ref. 3; BAC11317).				E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.564C>T	CCDS13534.1																																																																																				0.602	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		6	543	0	0	0	1	0	6	543				
GMPR2	51292	broad.mit.edu	37	14	24702713	24702713	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:24702713G>A	ENST00000355299.4	+	3	577	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	NEDD8-MDP1_ENST00000534348.1_5'Flank|GMPR2_ENST00000559836.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.R57Q|NEDD8_ENST00000524927.1_5'Flank|GMPR2_ENST00000348719.7_Missense_Mutation_p.R39Q|NEDD8_ENST00000533242.1_5'Flank|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000420554.2_Missense_Mutation_p.R57Q|GMPR2_ENST00000456667.3_Missense_Mutation_p.R39Q|GMPR2_ENST00000399440.2_Missense_Mutation_p.R39Q|NEDD8-MDP1_ENST00000604306.1_5'Flank|GMPR2_ENST00000557854.1_Missense_Mutation_p.R57Q	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	39					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TTTTCATTTCGGAACTCAAAG	0.438																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(169-171)cGg>cAg		guanosine monophosphate reductase 2							94.0	94.0	94.0					14																	24702713		1957	4185	6142	SO:0001583	missense	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24702713G>A		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.116G>A	14.37:g.24702713G>A	ENSP00000347449:p.Arg39Gln					GMPR2_ENST00000399440.2_Missense_Mutation_p.R39Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.R57Q|GMPR2_ENST00000559836.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.R39Q|GMPR2_ENST00000420554.2_Missense_Mutation_p.R57Q|GMPR2_ENST00000456667.3_Missense_Mutation_p.R39Q|GMPR2_ENST00000355299.4_Missense_Mutation_p.R39Q|GMPR2_ENST00000348719.7_Missense_Mutation_p.R39Q	p.R57Q			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	447	+			39					D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	c.170G>A	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	37	5.984694	0.97173	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.72	5.72	0.89469	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.114481	0.64402	D	0.000020	D	0.82421	0.5033	M	0.78285	2.405	0.80722	D	1	P;D;P;D;D	0.61080	0.841;0.989;0.94;0.983;0.982	B;P;B;P;B	0.46659	0.382;0.523;0.352;0.484;0.388	D	0.85296	0.1070	10	0.72032	D	0.01	-0.416	18.6522	0.91433	0.0:0.0:1.0:0.0	.	39;39;57;39;39	Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;GMPR2_HUMAN	Q	39;39;57;39;39;39	ENSP00000347449:R39Q;ENSP00000392859:R57Q;ENSP00000382369:R39Q;ENSP00000334409:R39Q;ENSP00000405743:R39Q	ENSP00000334409:R39Q	R	+	2	0	GMPR2	23772553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.007000	0.93597	2.700000	0.92200	0.563000	0.77884	CGG		0.438	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		5	516	0	0	0	1	0	5	516				
HNRNPA0	10949	broad.mit.edu	37	5	137089488	137089488	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:137089488G>A	ENST00000314940.4	-	1	551	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	90					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCACCGGGCCGCGCCGAATCC	0.657																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(268-270)Cgg>Tgg		heterogeneous nuclear ribonucleoprotein A0							53.0	57.0	55.0					5																	137089488		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089488G>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.268C>T	5.37:g.137089488G>A	ENSP00000316042:p.Arg90Trp						p.R90W	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	551	-			90					Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.268C>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272389	0.80580	.	.	ENSG00000177733	ENST00000314940	D	0.89050	-2.46	4.88	3.99	0.46301	Nucleotide-binding, alpha-beta plait (1);	0.139138	0.44688	U	0.000429	D	0.92616	0.7654	M	0.84773	2.715	0.40690	D	0.982382	D	0.76494	0.999	P	0.54499	0.754	D	0.93396	0.6756	10	0.87932	D	0	.	12.5152	0.56028	0.0:0.0:0.5664:0.4335	.	90	Q13151	ROA0_HUMAN	W	90	ENSP00000316042:R90W	ENSP00000316042:R90W	R	-	1	2	HNRNPA0	137117387	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.737000	0.55060	1.022000	0.39626	0.305000	0.20034	CGG		0.657	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		12	529	0	0	0	1	0	12	529				
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99.0	109.0	105.0					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			6	978	0	0	0	1	0	6	978				
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137.0	136.0	136.0					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	1326	0	0	0	1	0	7	1326				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|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	155	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)		p.S155S(4)		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)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	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.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	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.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S155S	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	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	295	0	0	0	1	0	5	295				
IL6ST	3572	broad.mit.edu	37	5	55247756	55247756	+	Splice_Site	SNP	C	C	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:55247756C>A	ENST00000381298.2	-	13	2012		c.e13+1		IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer						ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTTTTATTACCAGTTTCATT	0.289			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e13+1		interleukin 6 signal transducer (gp130, oncostatin M receptor)							22.0	22.0	22.0					5																	55247756		2199	4295	6494	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55247756C>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1699+1G>T	5.37:g.55247756C>A						IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381287.4_Splice_Site		NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			13	2012	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)						A0N0L4|Q5FC04|Q9UQ41	Splice_Site	SNP	ENST00000381298.2	37		CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561469	0.65538	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5907	0.95509	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL6ST	55283513	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.705000	0.54823	2.642000	0.89623	0.563000	0.77884	.		0.289	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Intron	45	91	1	0	1.00001e-27	1	1.07785e-27	45	91				
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTCATCGACCGCATGAGCTAC	0.617																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(442-444)cGc>cAc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							93.0	88.0	89.0					10																	50819229		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819229G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.443G>A	10.37:g.50819229G>A	ENSP00000363229:p.Arg148His					CHAT_ENST00000339797.1_Intron	p.R148H	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	883	+			148					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.443G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826104	0.90955	.	.	ENSG00000187714	ENST00000374115	T	0.65549	-0.16	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.83982	0.5372	M	0.93678	3.445	0.58432	D	0.999993	D	0.64830	0.994	D	0.66847	0.947	D	0.88998	0.3419	10	0.87932	D	0	-4.4522	17.8543	0.88758	0.0:0.0:1.0:0.0	.	148	Q16572	VACHT_HUMAN	H	148	ENSP00000363229:R148H	ENSP00000363229:R148H	R	+	2	0	SLC18A3	50489235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.464000	0.97655	2.203000	0.70933	0.561000	0.74099	CGC		0.617	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		7	746	0	0	0	1	0	7	746				
PSMD2	5708	broad.mit.edu	37	3	184021144	184021144	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:184021144G>A	ENST00000310118.4	+	9	1664	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.R210H|PSMD2_ENST00000439383.1_Missense_Mutation_p.R239H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	369					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)	GACTCTGCCCGCATGAACCTG	0.493																																					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.(1105-1107)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						109.0	105.0	106.0					3																	184021144		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.chr3:184021144G>A	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.1106G>A	3.37:g.184021144G>A	ENSP00000310129:p.Arg369His					EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.R239H|PSMD2_ENST00000435761.1_Missense_Mutation_p.R210H	p.R369H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1664	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		369					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.1106G>A	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847237	0.91277	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.26660	1.72;1.74;1.73	5.7	5.7	0.88788	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74348	0.983;0.964	T	0.63625	-0.6595	10	0.66056	D	0.02	-13.2682	20.1946	0.98239	0.0:0.0:1.0:0.0	.	210;369	E9PCS3;Q13200	.;PSMD2_HUMAN	H	369;361;210;239	ENSP00000310129:R369H;ENSP00000402618:R210H;ENSP00000416028:R239H	ENSP00000310129:R369H	R	+	2	0	PSMD2	185503838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.846000	0.97976	0.603000	0.83216	CGC		0.493	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		9	1060	0	0	0	1	0	9	1060				
USP14	9097	broad.mit.edu	37	18	211215	211215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr18:211215G>A	ENST00000261601.7	+	16	1507	c.1416G>A	c.(1414-1416)tgG>tgA	p.W472*	USP14_ENST00000383589.2_Nonsense_Mutation_p.W426*|USP14_ENST00000400266.3_Nonsense_Mutation_p.W461*|USP14_ENST00000582707.1_Nonsense_Mutation_p.W437*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	472	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTGGAGACTGGCATATCGCTT	0.393																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(1414-1416)tgG>tgA		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							124.0	109.0	114.0					18																	211215		2203	4300	6503	SO:0001587	stop_gained	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:211215G>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1416G>A	18.37:g.211215G>A	ENSP00000261601:p.Trp472*					USP14_ENST00000582707.1_Nonsense_Mutation_p.W437*|USP14_ENST00000383589.2_Nonsense_Mutation_p.W426*|USP14_ENST00000400266.3_Nonsense_Mutation_p.W461*	p.W472*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			16	1507	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	472					J3QRZ5|Q53XY5	Nonsense_Mutation	SNP	ENST00000261601.7	37	c.1416G>A	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774810	0.96922	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2632	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	472;437;461	.	ENSP00000261601:W472X	W	+	3	0	USP14	201215	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	TGG		0.393	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		5	458	0	0	0	1	0	5	458				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	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			5	106	0	0	0	1	0	5	106				
PCLO	27445	broad.mit.edu	37	7	82387941	82387941	+	Missense_Mutation	SNP	T	T	C	rs377710753		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:82387941T>C	ENST00000333891.9	-	25	15716	c.15379A>G	c.(15379-15381)Aga>Gga	p.R5127G		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						TTGACTATTCTTTTTCTGAGA	0.383																																						ENST00000333891.8																			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.(15379-15381)Aga>Gga		piccolo presynaptic cytomatrix protein							244.0	231.0	235.0					7																	82387941		1840	4084	5924	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.chr7:82387941T>C	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.15379A>G	7.37:g.82387941T>C	ENSP00000334319:p.Arg5127Gly						p.R5127G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			25	15716	-			5050						Missense_Mutation	SNP	ENST00000333891.9	37	c.15379A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139297	0.37728	.	.	ENSG00000186472	ENST00000333891	T	0.06768	3.26	5.51	5.51	0.81932	.	0.000000	0.43260	U	0.000582	T	0.17831	0.0428	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.02654	-1.1128	10	0.87932	D	0	.	15.6222	0.76816	0.0:0.0:0.0:1.0	.	5127	Q9Y6V0-5	.	G	5127	ENSP00000334319:R5127G	ENSP00000334319:R5127G	R	-	1	2	PCLO	82225877	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.594000	0.46189	2.100000	0.63781	0.477000	0.44152	AGA		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	962	0	0	0	1	0	6	962				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	88	0	0	0	1	0	4	88				
ALDH3B2	222	broad.mit.edu	37	11	67432919	67432919	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:67432919G>A	ENST00000349015.3	-	7	981	c.543C>T	c.(541-543)ccC>ccT	p.P181P	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Silent_p.P181P	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	181					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TCTGCAGGGCGGGCAGCAGCC	0.642																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(541-543)ccC>ccT		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						76.0	85.0	82.0					11																	67432919		2200	4294	6494	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67432919G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.543C>T	11.37:g.67432919G>A						ALDH3B2_ENST00000530069.1_Silent_p.P181P	p.P181P	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			7	981	-			181					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.543C>T	CCDS31622.1																																																																																				0.642	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		6	736	0	0	0	1	0	6	736				
BANK1	55024	broad.mit.edu	37	4	102783700	102783700	+	Silent	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:102783700C>T	ENST00000322953.4	+	4	916	c.642C>T	c.(640-642)ttC>ttT	p.F214F	BANK1_ENST00000428908.1_Silent_p.F81F|BANK1_ENST00000508653.1_Silent_p.F81F|BANK1_ENST00000504592.1_Silent_p.F199F|BANK1_ENST00000444316.2_Silent_p.F184F	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	214	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTGAAATATTCATAATTTTGA	0.318																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(595-597)ttC>ttT		B-cell scaffold protein with ankyrin repeats 1							62.0	64.0	63.0					4																	102783700		2203	4298	6501	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102783700C>T	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.642C>T	4.37:g.102783700C>T						BANK1_ENST00000508653.1_Silent_p.F81F|BANK1_ENST00000444316.2_Silent_p.F184F|BANK1_ENST00000322953.4_Silent_p.F214F|BANK1_ENST00000428908.1_Silent_p.F81F	p.F199F			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	8	1015	+		Hepatocellular(203;0.217)	214					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.597C>T	CCDS34038.1																																																																																				0.318	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		27	234	0	0	0	1	0	27	234				
ORMDL3	94103	broad.mit.edu	37	17	38079367	38079367	+	Silent	SNP	C	C	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:38079367C>A	ENST00000394169.1	-	5	1818	c.324G>T	c.(322-324)gtG>gtT	p.V108V	ORMDL3_ENST00000304046.2_Silent_p.V108V|ORMDL3_ENST00000579695.1_Silent_p.V108V|ORMDL3_ENST00000584220.1_Silent_p.V92V|ORMDL3_ENST00000582052.1_5'Flank			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	108					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			GCACTCACAGCACGATGGGTG	0.617																																						ENST00000394169.1																			0				endometrium(3)|kidney(1)|lung(1)	5						c.(322-324)gtG>gtT		ORM1-like 3 (S. cerevisiae)							109.0	100.0	103.0					17																	38079367		2203	4300	6503	SO:0001819	synonymous_variant	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38079367C>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.324G>T	17.37:g.38079367C>A						ORMDL3_ENST00000584220.1_Silent_p.V92V|ORMDL3_ENST00000304046.2_Silent_p.V108V|ORMDL3_ENST00000579695.1_Silent_p.V108V	p.V108V			Q8N138	ORML3_HUMAN	Lung(15;0.0234)		5	1818	-	Colorectal(19;0.000442)		108					B3KS83|Q6UY83	Silent	SNP	ENST00000394169.1	37	c.324G>T	CCDS11355.1																																																																																				0.617	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		25	530	1	0	1.37878e-21	1	1.46852e-21	25	530				
WRN	7486	broad.mit.edu	37	8	30945390	30945390	+	Missense_Mutation	SNP	A	A	T	rs149565907	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr8:30945390A>T	ENST00000298139.5	+	12	1779	c.1530A>T	c.(1528-1530)gaA>gaT	p.E510D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		aagaagaagaagatgatgaaa	0.373			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	19	0.00379393	0.0	0.0	5008	,	,		18765	0.0169		0.0	False		,,,				2504	0.002				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1528-1530)gaA>gaT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like		A	ASP/GLU	0,4406		0,0,2203	76.0	72.0	73.0		1530		0.9	8	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WRN	NM_000553.4	45	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	510/1433	30945390	1,13005	2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945390A>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1530A>T	8.37:g.30945390A>T	ENSP00000298139:p.Glu510Asp						p.E510D	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1779	+		Breast(100;0.195)	510			Poly-Glu.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1530A>T	CCDS6082.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	A	0.001	-3.733300	0.00005	0.0	1.16E-4	ENSG00000165392	ENST00000298139	T	0.43688	0.94	.	.	.	.	0.540108	0.15136	N	0.278577	T	0.05044	0.0135	N	0.00621	-1.32	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	8	0.02654	T	1	-5.6664	.	.	.	.	510	Q14191	WRN_HUMAN	D	510	ENSP00000298139:E510D	ENSP00000298139:E510D	E	+	3	2	WRN	31064932	0.898000	0.30612	0.889000	0.34880	0.359000	0.29487	-0.189000	0.09629	-1.869000	0.01141	-1.957000	0.00481	GAA		0.373	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	330	0	0	0	1	0	5	330				
PWWP2B	170394	broad.mit.edu	37	10	134218478	134218478	+	Silent	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:134218478C>T	ENST00000305233.5	+	2	533	c.474C>T	c.(472-474)aaC>aaT	p.N158N	PWWP2B_ENST00000368609.4_Silent_p.N158N	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	158										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGTCCCGCAACCGCGACCCGG	0.721																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(472-474)aaC>aaT		PWWP domain containing 2B							6.0	6.0	6.0					10																	134218478		1900	3774	5674	SO:0001819	synonymous_variant	170394							g.chr10:134218478C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.474C>T	10.37:g.134218478C>T						PWWP2B_ENST00000368609.4_Silent_p.N158N	p.N158N	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	533	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	158					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.474C>T	CCDS7667.2																																																																																				0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		5	65	0	0	0	1	0	5	65				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		6	311	0	0	0	1	0	6	311				
TENM3	55714	broad.mit.edu	37	4	183713629	183713629	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:183713629T>C	ENST00000511685.1	+	26	5927	c.5804T>C	c.(5803-5805)cTa>cCa	p.L1935P	TENM3_ENST00000406950.2_Missense_Mutation_p.L1935P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1935					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)										GGGCTGCTTCTACAAACAGCT	0.463																																						ENST00000511685.1																			0											c.(5803-5805)cTa>cCa		teneurin transmembrane protein 3							62.0	63.0	63.0					4																	183713629		1929	4124	6053	SO:0001583	missense	55714							g.chr4:183713629T>C	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.5804T>C	4.37:g.183713629T>C	ENSP00000424226:p.Leu1935Pro					TENM3_ENST00000406950.2_Missense_Mutation_p.L1935P	p.L1935P							26	5927	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5804T>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132680	0.56828	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90197	-2.63;-2.63	4.74	4.74	0.60224	.	.	.	.	.	D	0.94866	0.8341	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.95489	0.8567	9	0.87932	D	0	.	14.6876	0.69059	0.0:0.0:0.0:1.0	.	1935	Q9P273	TEN3_HUMAN	P	1935	ENSP00000424226:L1935P;ENSP00000385276:L1935P	ENSP00000385276:L1935P	L	+	2	0	ODZ3	183950623	1.000000	0.71417	0.999000	0.59377	0.613000	0.37349	7.599000	0.82757	2.108000	0.64289	0.482000	0.46254	CTA		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	462	0	0	0	1	0	6	462				
SHANK2	22941	broad.mit.edu	37	11	70319016	70319016	+	Silent	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:70319016T>C	ENST00000423696.2	-	16	4407	c.4371A>G	c.(4369-4371)agA>agG	p.R1457R	SHANK2_ENST00000409161.1_Silent_p.R1240R|SHANK2_ENST00000449833.2_Silent_p.R1241R|SHANK2_ENST00000338508.4_Silent_p.R1837R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1457	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTATGTTCATTCTGTGCCCGA	0.502																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5509-5511)agA>agG		SH3 and multiple ankyrin repeat domains 2							213.0	217.0	216.0					11																	70319016		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319016T>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4371A>G	11.37:g.70319016T>C						SHANK2_ENST00000449833.2_Silent_p.R1241R|SHANK2_ENST00000409161.1_Silent_p.R1240R|SHANK2_ENST00000423696.2_Silent_p.R1457R	p.R1837R			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5510	-			1457					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.5511A>G																																																																																					0.502	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		8	851	0	0	0	1	0	8	851				
C2	717	broad.mit.edu	37	6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	rs201130773		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	243					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19168	0.0		0.001	False		,,,				2504	0.0					ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(727-729)cGt>cAt		complement component 2							108.0	113.0	112.0					6																	31901955		2203	4300	6503	SO:0001583	missense	717							g.chr6:31901955G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.728G>A	6.37:g.31901955G>A	ENSP00000299367:p.Arg243His					CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R111H	p.R243H	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	6	1004	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.728G>A	CCDS4728.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.47	2.543921	0.45280	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.46	5.46	0.80206	.	0.000000	0.38897	N	0.001530	D	0.86510	0.5950	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.97	D	0.87766	0.2602	9	0.87932	D	0	-14.0377	15.1563	0.72746	0.0:0.0:1.0:0.0	.	214;111;243;243	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	H	120;243;111;181;243;102	ENSP00000406121:R120H;ENSP00000299367:R243H;ENSP00000395683:R111H;ENSP00000391354:R181H;ENSP00000406190:R243H;ENSP00000419048:R102H	ENSP00000299367:R243H	R	+	2	0	C2	32009934	0.998000	0.40836	0.954000	0.39281	0.776000	0.43924	4.689000	0.61723	2.726000	0.93360	0.655000	0.94253	CGT		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			6	872	0	0	0	1	0	6	872				
SOBP	55084	broad.mit.edu	37	6	107827554	107827554	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:107827554C>T	ENST00000317357.5	+	3	1003	c.344C>T	c.(343-345)cCt>cTt	p.P115L		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGTGACTCACCTGCAGGGTCA	0.448																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(343-345)cCt>cTt		sine oculis binding protein homolog (Drosophila)							217.0	207.0	210.0					6																	107827554		1919	4143	6062	SO:0001583	missense	55084						metal ion binding	g.chr6:107827554C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.344C>T	6.37:g.107827554C>T	ENSP00000318900:p.Pro115Leu						p.P115L	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	3	1003	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	115						Missense_Mutation	SNP	ENST00000317357.5	37	c.344C>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288524	0.59976	.	.	ENSG00000112320	ENST00000317357	T	0.15718	2.4	5.24	5.24	0.73138	.	0.996520	0.08126	N	0.994002	T	0.19287	0.0463	L	0.29908	0.895	0.58432	D	0.999999	D	0.56287	0.975	P	0.54060	0.741	T	0.14783	-1.0460	10	0.66056	D	0.02	-1.0764	19.1981	0.93698	0.0:1.0:0.0:0.0	.	115	A7XYQ1	SOBP_HUMAN	L	115	ENSP00000318900:P115L	ENSP00000318900:P115L	P	+	2	0	SOBP	107934247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.479000	0.66813	2.615000	0.88500	0.655000	0.94253	CCT		0.448	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		8	967	0	0	0	1	0	8	967				
GLG1	2734	broad.mit.edu	37	16	74640687	74640687	+	Silent	SNP	T	T	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:74640687T>C	ENST00000422840.2	-	1	305	c.306A>G	c.(304-306)ggA>ggG	p.G102G	GLG1_ENST00000205061.5_Silent_p.G102G|GLG1_ENST00000447066.2_Silent_p.G102G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	102					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCCCCGCTCCTCCCCGCCGGG	0.697																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(304-306)ggA>ggG		golgi glycoprotein 1							7.0	8.0	8.0					16																	74640687		2133	4196	6329	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74640687T>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.306A>G	16.37:g.74640687T>C						GLG1_ENST00000205061.5_Silent_p.G102G|GLG1_ENST00000447066.2_Silent_p.G102G	p.G102G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			1	305	-			102					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.306A>G	CCDS45527.1																																																																																				0.697	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		10	61	0	0	0	1	0	10	61				
SPAG9	9043	broad.mit.edu	37	17	49059989	49059989	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:49059989G>A	ENST00000262013.7	-	25	3341	c.3133C>T	c.(3133-3135)Cgg>Tgg	p.R1045W	SPAG9_ENST00000505279.1_Missense_Mutation_p.R1035W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R888W|SPAG9_ENST00000357122.4_Missense_Mutation_p.R1031W	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1045					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGATGAGGCCGTCCAAGGTCT	0.398																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3133-3135)Cgg>Tgg		sperm associated antigen 9							140.0	133.0	136.0					17																	49059989		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49059989G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3133C>T	17.37:g.49059989G>A	ENSP00000262013:p.Arg1045Trp					SPAG9_ENST00000357122.4_Missense_Mutation_p.R1031W|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1035W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R888W	p.R1045W	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		25	3341	-			1045					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3133C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484781	0.84854	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.82	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.114208	0.64402	N	0.000015	T	0.59169	0.2174	M	0.73598	2.24	0.58432	D	0.999996	D;D;D;D	0.89917	0.998;0.997;0.998;1.0	D;P;D;D	0.69307	0.963;0.881;0.944;0.963	T	0.64287	-0.6443	10	0.66056	D	0.02	-13.5751	14.6436	0.68742	0.0694:0.0:0.9306:0.0	.	1035;1045;1031;888	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	W	1045;802;792;582;888;1035;1031;643	ENSP00000262013:R1045W;ENSP00000423165:R888W;ENSP00000426900:R1035W;ENSP00000349636:R1031W	ENSP00000262013:R1045W	R	-	1	2	SPAG9	46414988	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.438000	0.59961	1.463000	0.47967	0.555000	0.69702	CGG		0.398	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		8	705	0	0	0	1	0	8	705				
GRID2	2895	broad.mit.edu	37	4	93225857	93225857	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:93225857C>T	ENST00000282020.4	+	1	308	c.50C>T	c.(49-51)aCc>aTc	p.T17I	RP11-9B6.1_ENST00000504213.1_5'Flank|GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T17I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	17					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGGTCTCGAACCTGGGACTCG	0.458																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(49-51)aCc>aTc		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						183.0	167.0	172.0					4																	93225857		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:93225857C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.50C>T	4.37:g.93225857C>T	ENSP00000282020:p.Thr17Ile					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T17I	p.T17I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	1	308	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	17					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.50C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124090	0.37533	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.13901	2.63;2.55	4.56	3.71	0.42584	.	.	.	.	.	T	0.09423	0.0232	N	0.14661	0.345	0.21719	N	0.999576	B;B	0.19583	0.037;0.037	B;B	0.18871	0.023;0.023	T	0.29027	-1.0025	9	0.23302	T	0.38	.	14.6334	0.68673	0.0:0.8535:0.1464:0.0	.	17;17	E9PH24;O43424	.;GRID2_HUMAN	I	17	ENSP00000282020:T17I;ENSP00000421257:T17I	ENSP00000282020:T17I	T	+	2	0	GRID2	93444880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.549000	0.45803	1.111000	0.41721	0.650000	0.86243	ACC		0.458	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	298	0	0	0	1	0	5	298				
HSF4	3299	broad.mit.edu	37	16	67199662	67199662	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:67199662G>A	ENST00000521374.1	+	3	273	c.273G>A	c.(271-273)ctG>ctA	p.L91L	HSF4_ENST00000584272.1_Silent_p.L91L|HSF4_ENST00000421453.1_Silent_p.L91L|HSF4_ENST00000264009.8_Silent_p.L91L			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	91					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGGGCGGCCTGCTTAGGCCGG	0.726																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(271-273)ctG>ctA		heat shock transcription factor 4							13.0	18.0	17.0					16																	67199662		1982	4173	6155	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199662G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.273G>A	16.37:g.67199662G>A						HSF4_ENST00000521374.1_Silent_p.L91L|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Silent_p.L91L|HSF4_ENST00000584272.1_Silent_p.L91L|RP11-5A19.5_ENST00000580114.1_3'UTR	p.L91L	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1238	+		Ovarian(137;0.0563)	91					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.273G>A	CCDS42175.1																																																																																				0.726	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		8	146	0	0	0	1	0	8	146				
GRIN2C	2905	broad.mit.edu	37	17	72840498	72840498	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:72840498C>T	ENST00000293190.5	-	12	2646	c.2500G>A	c.(2500-2502)Gcc>Acc	p.A834T	GRIN2C_ENST00000347612.4_Missense_Mutation_p.A834T	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	834					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTCCCAGGCGAAGACCAGC	0.617																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2500-2502)Gcc>Acc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						104.0	94.0	98.0					17																	72840498		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72840498C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2500G>A	17.37:g.72840498C>T	ENSP00000293190:p.Ala834Thr					GRIN2C_ENST00000347612.4_Missense_Mutation_p.A834T	p.A834T	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			12	2646	-	all_lung(278;0.172)|Lung NSC(278;0.207)		834					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2500G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573174	0.45902	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49720	0.77	4.79	3.8	0.43715	.	0.131349	0.50627	D	0.000113	T	0.58133	0.2101	M	0.65975	2.015	0.44780	D	0.997788	D;D	0.76494	0.999;0.99	P;P	0.56865	0.808;0.656	T	0.57579	-0.7787	10	0.35671	T	0.21	.	12.0815	0.53673	0.313:0.687:0.0:0.0	.	868;834	Q8IW23;Q14957	.;NMDE3_HUMAN	T	834;868	ENSP00000293190:A834T	ENSP00000293190:A834T	A	-	1	0	GRIN2C	70352093	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.085000	0.50151	1.098000	0.41479	0.561000	0.74099	GCC		0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			6	471	0	0	0	1	0	6	471				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	546	0	0	0	1	0	6	546				
ACIN1	22985	broad.mit.edu	37	14	23530745	23530745	+	Silent	SNP	T	T	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:23530745T>G	ENST00000262710.1	-	17	3687	c.3360A>C	c.(3358-3360)ccA>ccC	p.P1120P	ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000397341.3_Silent_p.P362P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000605057.1_Silent_p.P1062P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1120	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGTGGGGGTGGGGGGTGCA	0.657																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3358-3360)ccA>ccC		apoptotic chromatin condensation inducer 1							7.0	10.0	9.0					14																	23530745		2074	3973	6047	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530745T>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3360A>C	14.37:g.23530745T>G						ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000397341.3_Silent_p.P362P	p.P1120P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3687	-	all_cancers(95;1.36e-05)		1120			Pro-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.3360A>C	CCDS9587.1																																																																																				0.657	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	92	0	0	0	1	0	7	92				
VPS13D	55187	broad.mit.edu	37	1	12389931	12389931	+	Missense_Mutation	SNP	C	C	T	rs369839825		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:12389931C>T	ENST00000358136.3	+	37	8373	c.8243C>T	c.(8242-8244)gCc>gTc	p.A2748V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2748V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGGCTATGCCCACTTCACC	0.418																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8242-8244)gCc>gTc		vacuolar protein sorting 13 homolog D (S. cerevisiae)		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	101.0	92.0	95.0		8243,8243	5.8	1.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VPS13D	NM_015378.2,NM_018156.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	2748/4389,2748/4364	12389931	1,13005	2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12389931C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8243C>T	1.37:g.12389931C>T	ENSP00000350854:p.Ala2748Val					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2748V	p.A2748V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	37	8373	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2748						Missense_Mutation	SNP	ENST00000358136.3	37	c.8243C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.515898|2.515898	0.44763|0.44763	0.0|0.0	1.16E-4|1.16E-4	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.47528|.	0.84;0.84|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.099684|.	0.64402|.	D|.	0.000002|.	T|T	0.73999|0.73999	0.3659|0.3659	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;B;B|.	0.76494|.	0.999;0.001;0.0|.	D;B;B|.	0.80764|.	0.994;0.005;0.002|.	T|T	0.69168|0.69168	-0.5216|-0.5216	10|5	0.28530|.	T|.	0.3|.	.|.	20.3431|20.3431	0.98773|0.98773	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	655;2748;2748|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	V|S	2748|1571	ENSP00000348666:A2748V;ENSP00000350854:A2748V|.	ENSP00000348666:A2748V|.	A|P	+|+	2|1	0|0	VPS13D|VPS13D	12312518|12312518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.087000|7.087000	0.76893|0.76893	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCC|CCC		0.418	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	392	0	0	0	1	0	5	392				
ZNF112	7771	broad.mit.edu	37	19	44832738	44832738	+	Silent	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:44832738G>A	ENST00000337401.4	-	5	1678	c.1590C>T	c.(1588-1590)tgC>tgT	p.C530C	ZNF112_ENST00000536500.1_Silent_p.C547C|ZNF112_ENST00000354340.4_Silent_p.C524C	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AACCTTTGCCGCATATATTGC	0.423																																						ENST00000354340.4																			0											c.(1570-1572)tgC>tgT		zinc finger protein 112							126.0	126.0	126.0					19																	44832738		2203	4300	6503	SO:0001819	synonymous_variant	7665							g.chr19:44832738G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1590C>T	19.37:g.44832738G>A						ZNF112_ENST00000536500.1_Silent_p.C547C|ZNF112_ENST00000337401.4_Silent_p.C530C	p.C524C	NM_013380.3	NP_037512.3					4	1623	-								A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.1572C>T	CCDS54276.1																																																																																				0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		8	900	0	0	0	1	0	8	900				
GRIN2B	2904	broad.mit.edu	37	12	13716939	13716939	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:13716939G>A	ENST00000609686.1	-	13	3442	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1078					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGCCTCTTGGCGGCATTGCC	0.592																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3232-3234)gCc>gTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						56.0	49.0	52.0					12																	13716939		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716939G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3233C>T	12.37:g.13716939G>A	ENSP00000477455:p.Ala1078Val						p.A1078V	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3442	-			1078					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3233C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694034	0.68386	.	.	ENSG00000150086	ENST00000279593	T	0.11821	2.74	5.39	5.39	0.77823	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.177847	0.49916	D	0.000125	T	0.14787	0.0357	N	0.22421	0.69	0.42777	D	0.993852	P	0.51449	0.945	P	0.47673	0.554	T	0.09228	-1.0684	10	0.20046	T	0.44	.	19.1533	0.93499	0.0:0.0:1.0:0.0	.	1078	Q13224	NMDE2_HUMAN	V	1078	ENSP00000279593:A1078V	ENSP00000279593:A1078V	A	-	2	0	GRIN2B	13608206	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	9.377000	0.97184	2.531000	0.85337	0.650000	0.86243	GCC		0.592	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	200	0	0	0	1	0	9	200				
ITGB1BP1	9270	broad.mit.edu	37	2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393																																						ENST00000360635.3																			1	Substitution - Missense(1)	p.G5D(1)	prostate(1)	kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(13-15)gGc>gAc		integrin beta 1 binding protein 1							301.0	290.0	294.0					2																	9558813		2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9558813C>T	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.14G>A	2.37:g.9558813C>T	ENSP00000353850:p.Gly5Asp					ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D	p.G5D			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	3	910	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		5					D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.14G>A	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292098	0.59976	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001;ENST00000497105	.	.	.	5.54	5.54	0.83059	.	0.048386	0.85682	D	0.000000	T	0.60405	0.2266	N	0.14661	0.345	0.48452	D	0.999653	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.62560	0.904;0.845;0.904	T	0.65471	-0.6160	9	0.54805	T	0.06	-41.9665	18.4694	0.90767	0.0:1.0:0.0:0.0	.	5;5;5	A8MPU2;O14713-2;O14713	.;.;ITBP1_HUMAN	D	5	.	ENSP00000238091:G5D	G	-	2	0	ITGB1BP1	9476264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.854000	0.48325	2.600000	0.87896	0.655000	0.94253	GGC		0.393	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		7	1000	0	0	0	1	0	7	1000				
ATP2C1	27032	broad.mit.edu	37	3	130699432	130699432	+	Missense_Mutation	SNP	G	G	A	rs200576649		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:130699432G>A	ENST00000510168.1	+	20	2298	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	ATP2C1_ENST00000328560.8_Missense_Mutation_p.R583H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R578H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R583H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R567H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R617H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R583H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R528H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	583					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTAGCCAGTCGTCTGGGATTG	0.383									Hailey-Hailey disease				G|||	1	0.000199681	0.0	0.0	5008	,	,		19098	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1747-1749)cGt>cAt		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						112.0	108.0	110.0					3																	130699432		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130699432G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1748G>A	3.37:g.130699432G>A	ENSP00000427461:p.Arg583His					ATP2C1_ENST00000328560.8_Missense_Mutation_p.R583H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R583H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R617H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R583H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R528H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R578H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R567H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R583H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R567H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R567H	p.R583H			P98194	AT2C1_HUMAN			20	2298	+			583					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1748G>A	CCDS46914.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	20.2|20.2	3.949035|3.949035	0.73787|0.73787	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612;ENST00000508660	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.96232|.	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95;-3.95|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67590|0.67590	0.2909|0.2909	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B;P;P;B;P;B;B|.	0.34997|.	0.401;0.456;0.479;0.401;0.479;0.19;0.227|.	B;B;B;B;B;B;B|.	0.32211|.	0.055;0.092;0.142;0.055;0.142;0.032;0.055|.	T|T	0.61515|0.61515	-0.7047|-0.7047	10|5	0.72032|.	D|.	0.01|.	.|.	19.8856|19.8856	0.96911|0.96911	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	617;578;617;583;617;583;583|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	H|I	567;528;567;617;578;583;583;567;567;583;583;583;583;582|537;101	ENSP00000423774:R567H;ENSP00000425320:R528H;ENSP00000421326:R567H;ENSP00000376914:R617H;ENSP00000432956:R578H;ENSP00000427461:R583H;ENSP00000424783:R583H;ENSP00000423330:R567H;ENSP00000422872:R567H;ENSP00000329664:R583H;ENSP00000395809:R583H;ENSP00000352665:R583H;ENSP00000402677:R583H|.	ENSP00000329664:R583H|.	R|V	+|+	2|1	0|0	ATP2C1|ATP2C1	132182122|132182122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	5.805000|5.805000	0.69143|0.69143	2.709000|2.709000	0.92574|0.92574	0.491000|0.491000	0.48974|0.48974	CGT|GTC		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		7	286	0	0	0	1	0	7	286				
LRIT2	340745	broad.mit.edu	37	10	85982168	85982168	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:85982168G>T	ENST00000372113.4	-	3	1166	c.1161C>A	c.(1159-1161)gaC>gaA	p.D387E	LRIT2_ENST00000538192.1_Missense_Mutation_p.D397E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	387	Fibronectin type-III.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCTTAGAGGTGTCAGCCACTG	0.527																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1159-1161)gaC>gaA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							84.0	75.0	78.0					10																	85982168		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982168G>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1161C>A	10.37:g.85982168G>T	ENSP00000361185:p.Asp387Glu					LRIT2_ENST00000538192.1_Missense_Mutation_p.D397E	p.D387E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1166	-			387			Fibronectin type-III.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1161C>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	0.103	-1.149598	0.01714	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.59502	0.65;0.26	4.64	1.74	0.24563	Fibronectin, type III (1);	0.841424	0.10869	N	0.625201	T	0.38719	0.1051	L	0.32530	0.975	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.006	T	0.27706	-1.0066	10	0.09590	T	0.72	.	4.8852	0.13699	0.267:0.2589:0.4741:0.0	.	397;387	B7ZME6;A6NDA9	.;LRIT2_HUMAN	E	387;397	ENSP00000361185:D387E;ENSP00000438264:D397E	ENSP00000361185:D387E	D	-	3	2	LRIT2	85972148	0.000000	0.05858	0.000000	0.03702	0.297000	0.27493	-1.554000	0.02172	0.151000	0.19162	-0.259000	0.10710	GAC		0.527	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		6	283	1	0	3.09899e-07	1	3.22438e-07	6	283				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	310	1	0	0.00198382	1	0.00200611	6	310				
KLK15	55554	broad.mit.edu	37	19	51330936	51330936	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:51330936G>A	ENST00000598239.1	-	2	209	c.179C>T	c.(178-180)gCg>gTg	p.A60V	KLK15_ENST00000416184.1_Missense_Mutation_p.A60V|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000301421.2_Missense_Mutation_p.A60V|KLK15_ENST00000326856.4_Missense_Mutation_p.A59V|KLK15_ENST00000596931.1_Missense_Mutation_p.A59V	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	60	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCAGTGGGCCGCAGACAGCAC	0.627																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(175-177)gCg>gTg		kallikrein-related peptidase 15							49.0	41.0	44.0					19																	51330936		2203	4295	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330936G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.179C>T	19.37:g.51330936G>A	ENSP00000469315:p.Ala60Val					KLK15_ENST00000596931.1_Missense_Mutation_p.A59V|KLK15_ENST00000301421.2_Missense_Mutation_p.A60V|KLK15_ENST00000416184.1_Missense_Mutation_p.A60V|KLK15_ENST00000598239.1_Missense_Mutation_p.A60V	p.A59V	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	305	-		all_neural(266;0.057)	60			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.176C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666915	0.88251	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D;D	0.96967	-4.19;-3.65;-3.65	4.66	4.66	0.58398	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42821	D	0.000659	D	0.98317	0.9442	M	0.91872	3.25	0.51482	D	0.999922	D;D;D;D	0.89917	1.0;0.999;0.997;0.992	P;D;D;P	0.70227	0.891;0.918;0.968;0.826	D	0.98874	1.0767	10	0.66056	D	0.02	.	15.4166	0.74974	0.0:0.0:1.0:0.0	.	60;59;60;60	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	V	60	ENSP00000314783:A60V;ENSP00000415136:A60V;ENSP00000301421:A60V	ENSP00000301421:A60V	A	-	2	0	KLK15	56022748	1.000000	0.71417	0.836000	0.33094	0.753000	0.42808	8.743000	0.91592	2.587000	0.87381	0.561000	0.74099	GCG		0.627	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		4	162	0	0	0	1	0	4	162				
UBR2	23304	broad.mit.edu	37	6	42656112	42656112	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:42656112G>A	ENST00000372899.1	+	45	5270	c.5012G>A	c.(5011-5013)gGc>gAc	p.G1671D	UBR2_ENST00000372901.1_Missense_Mutation_p.G1671D|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1671					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCTGGAGTGGGCATCTTCCTG	0.527																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(5011-5013)gGc>gAc		ubiquitin protein ligase E3 component n-recognin 2							149.0	143.0	145.0					6																	42656112		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42656112G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5012G>A	6.37:g.42656112G>A	ENSP00000361990:p.Gly1671Asp					UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.G1671D	p.G1671D			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		45	5270	+	Colorectal(47;0.196)		1671					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.5012G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372810	0.95923	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.64438	-0.1;-0.1	5.87	5.87	0.94306	.	0.046236	0.85682	D	0.000000	D	0.83644	0.5299	M	0.92412	3.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.85923	0.1447	10	0.87932	D	0	-18.0926	20.5827	0.99408	0.0:0.0:1.0:0.0	.	259;1671;1671	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	D	1671	ENSP00000361990:G1671D;ENSP00000361992:G1671D	ENSP00000361990:G1671D	G	+	2	0	UBR2	42764090	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GGC		0.527	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		6	728	0	0	0	1	0	6	728				
NACA	4666	broad.mit.edu	37	12	57111688	57111688	+	Missense_Mutation	SNP	A	A	G	rs533157907	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:57111688A>G	ENST00000454682.1	-	3	3907	c.3626T>C	c.(3625-3627)cTa>cCa	p.L1209P	NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1209	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGTAGCTAGACCTCCTTT	0.637			T	BCL6	NHL								a|||	3	0.000599042	0.0008	0.0	5008	,	,		7321	0.001		0.001	False		,,,				2504	0.0					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3625-3627)cTa>cCa		nascent polypeptide-associated complex alpha subunit							63.0	74.0	71.0					12																	57111688		1226	2862	4088	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111688A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3626T>C	12.37:g.57111688A>G	ENSP00000403817:p.Leu1209Pro					NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron	p.L1209P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3907	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3626T>C		.	.	.	.	.	.	.	.	.	.	a	0.422	-0.907813	0.02434	.	.	ENSG00000196531	ENST00000454682	T	0.46451	0.87	.	.	.	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.09310	N	0.999996	P	0.51240	0.943	P	0.55011	0.766	T	0.32241	-0.9914	5	.	.	.	.	.	.	.	.	1209	E9PAV3	.	P	1209	ENSP00000403817:L1209P	.	L	-	2	0	NACA	55397955	0.001000	0.12720	0.029000	0.17559	0.104000	0.19210	-0.511000	0.06321	0.103000	0.17682	0.102000	0.15555	CTA		0.637	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	700	0	0	0	1	0	6	700				
KRTAP9-2	83899	broad.mit.edu	37	17	39383275	39383275	+	Silent	SNP	C	C	G	rs375874726		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:39383275C>G	ENST00000377721.3	+	1	376	c.369C>G	c.(367-369)ccC>ccG	p.P123P	KRTAP9-2_ENST00000455970.2_Silent_p.P107P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	123	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTACTACCCCACGACTGTCT	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		20112	0.0		0.0	False		,,,				2504	0.001					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)ccC>ccG		keratin associated protein 9-2							162.0	155.0	157.0					17																	39383275		2203	4300	6503	SO:0001819	synonymous_variant	83899					keratin filament	protein binding	g.chr17:39383275C>G	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.369C>G	17.37:g.39383275C>G						KRTAP9-2_ENST00000455970.2_Silent_p.P107P	p.P123P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	376	+		Breast(137;0.000496)	123			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Silent	SNP	ENST00000377721.3	37	c.369C>G	CCDS32651.1																																																																																				0.627	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			8	741	0	0	0	1	0	8	741				
UMODL1	89766	broad.mit.edu	37	21	43529791	43529791	+	Missense_Mutation	SNP	G	G	A	rs372331180		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr21:43529791G>A	ENST00000408910.2	+	10	1639	c.1639G>A	c.(1639-1641)Gca>Aca	p.A547T	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Missense_Mutation_p.A475T|UMODL1_ENST00000400424.2_Missense_Mutation_p.A475T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A547T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	547	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTCCCGCGCAGGCCGGGC	0.677																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1423-1425)Gca>Aca		uromodulin-like 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3965		0,1,1982	32.0	39.0	36.0		1639,1423,1423,1639	0.2	0.0	21		36	0,8260		0,0,4130	no	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	58,58,58,58	0,1,6112	AA,AG,GG		0.0,0.0252,0.0082	benign,benign,benign,benign	547/1319,475/1375,475/1247,547/1447	43529791	1,12225	1983	4130	6113	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43529791G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1639G>A	21.37:g.43529791G>A	ENSP00000386147:p.Ala547Thr					UMODL1_ENST00000400424.1_Missense_Mutation_p.A475T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A547T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A547T	p.A475T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			10	1819	+			547			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1423G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	9.478	1.097325	0.20552	2.52E-4	0.0	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;D;T;D	0.87029	-0.68;-2.2;-0.68;-2.2	3.23	0.158	0.14942	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.624754	0.13050	N	0.417818	D	0.88396	0.6425	L	0.38531	1.155	0.09310	N	1	D;P	0.76494	0.999;0.754	D;B	0.69307	0.963;0.363	T	0.79888	-0.1613	10	0.72032	D	0.01	-2.2113	11.007	0.47639	0.0:0.6156:0.3843:0.0	.	547;547	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	475;475;547;547	ENSP00000383279:A475T;ENSP00000383276:A475T;ENSP00000386126:A547T;ENSP00000386147:A547T	ENSP00000383276:A475T	A	+	1	0	UMODL1	42402860	0.001000	0.12720	0.008000	0.14137	0.001000	0.01503	0.280000	0.18790	0.028000	0.15324	0.655000	0.94253	GCA		0.677	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	220	0	0	0	1	0	5	220				
CADPS2	93664	broad.mit.edu	37	7	122303575	122303575	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:122303575A>C	ENST00000449022.2	-	3	521	c.502T>G	c.(502-504)Tgt>Ggt	p.C168G	CADPS2_ENST00000313070.7_Missense_Mutation_p.C168G|CADPS2_ENST00000334010.7_Missense_Mutation_p.C168G|CADPS2_ENST00000412584.2_Missense_Mutation_p.C168G	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	168					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.C168G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTAGCAGAACACCCTCCACTC	0.373																																						ENST00000334010.7																			1	Substitution - Missense(1)	p.C168G(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(502-504)Tgt>Ggt		Ca++-dependent secretion activator 2							33.0	31.0	32.0					7																	122303575		1851	4110	5961	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122303575A>C		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.502T>G	7.37:g.122303575A>C	ENSP00000398481:p.Cys168Gly					CADPS2_ENST00000412584.2_Missense_Mutation_p.C168G|CADPS2_ENST00000313070.7_Missense_Mutation_p.C168G|CADPS2_ENST00000449022.2_Missense_Mutation_p.C168G	p.C168G	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			3	923	-			168					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.502T>G	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093183	0.76756	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91290	0.7254	M	0.77313	2.365	0.80722	D	1	P;P	0.47106	0.696;0.89	B;B	0.43413	0.268;0.419	D	0.92551	0.6050	10	0.87932	D	0	-10.1063	15.1818	0.72965	1.0:0.0:0.0:0.0	.	168;168	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	G	168;168;168;135;168;168	ENSP00000325581:C168G;ENSP00000333940:C168G;ENSP00000400401:C168G;ENSP00000398481:C168G	ENSP00000325581:C168G	C	-	1	0	CADPS2	122090811	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.307000	0.96226	1.997000	0.58415	0.528000	0.53228	TGT		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		11	95	0	0	0	1	0	11	95				
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10.0	10.0	10.0					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		4	69	0	0	0	1	0	4	69				
KRTAP5-5	439915	broad.mit.edu	37	11	1651423	1651423	+	Missense_Mutation	SNP	G	G	C	rs76164438		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:1651423G>C	ENST00000399676.2	+	1	391	c.353G>C	c.(352-354)gGc>gCc	p.G118A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	118	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.G118A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.701																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G118A(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(352-354)gGc>gCc		keratin associated protein 5-5							14.0	22.0	19.0					11																	1651423		1958	3943	5901	SO:0001583	missense	439915					keratin filament		g.chr11:1651423G>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.353G>C	11.37:g.1651423G>C	ENSP00000382584:p.Gly118Ala						p.G118A	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	391	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	118	Missing (in Ref. 1; BAD20201 and 2; CAF31639).		8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.353G>C	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.393260	0.00200	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01335	5.0	2.98	2.98	0.34508	.	.	.	.	.	T	0.02342	0.0072	M	0.78637	2.42	0.19775	N	0.999958	P	0.38827	0.649	B	0.34779	0.189	T	0.39941	-0.9589	9	0.21014	T	0.42	.	9.443	0.38679	0.0:0.0:1.0:0.0	.	118	Q701N2	KRA55_HUMAN	A	118;89	ENSP00000382584:G118A	ENSP00000382584:G118A	G	+	2	0	KRTAP5-5	1607999	0.991000	0.36638	0.997000	0.53966	0.025000	0.11179	3.998000	0.57024	1.240000	0.43803	0.418000	0.28097	GGC		0.701	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			6	227	0	0	0	1	0	6	227				
FAM149A	25854	broad.mit.edu	37	4	187074872	187074872	+	Missense_Mutation	SNP	G	G	A	rs140771382		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:187074872G>A	ENST00000356371.5	+	5	1033	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	FAM149A_ENST00000227065.4_Missense_Mutation_p.A54T|FAM149A_ENST00000502970.1_Missense_Mutation_p.A54T|FAM149A_ENST00000514153.1_Missense_Mutation_p.A54T|FAM149A_ENST00000503432.1_Missense_Mutation_p.A54T|FAM149A_ENST00000389354.5_Missense_Mutation_p.A54T|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	345										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCCTGCCTCCGCAGTCCACAG	0.507																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1033-1035)Gca>Aca		family with sequence similarity 149, member A		G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116.0	126.0	122.0		160,160	0.3	0.0	4	dbSNP_134	122	0,8600		0,0,4300	no	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	58,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	54/483,54/483	187074872	2,13004	2203	4300	6503	SO:0001583	missense	25854							g.chr4:187074872G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1033G>A	4.37:g.187074872G>A	ENSP00000348732:p.Ala345Thr					FAM149A_ENST00000503432.1_Missense_Mutation_p.A54T|FAM149A_ENST00000389354.5_Missense_Mutation_p.A54T|FAM149A_ENST00000502970.1_Missense_Mutation_p.A54T|FAM149A_ENST00000227065.4_Missense_Mutation_p.A54T|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_Missense_Mutation_p.A54T	p.A345T			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	5	1033	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	345					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1033G>A		.	.	.	.	.	.	.	.	.	.	G	7.964	0.747672	0.15710	4.54E-4	0.0	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000504330;ENST00000510790;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.45	0.334	0.15948	.	1.364760	0.04551	N	0.389909	T	0.28896	0.0717	L	0.38838	1.175	0.09310	N	1	P;P;B	0.42248	0.774;0.525;0.233	B;B;B	0.27715	0.066;0.082;0.032	T	0.19943	-1.0290	10	0.25751	T	0.34	-0.8577	4.1747	0.10346	0.1434:0.3316:0.4163:0.1087	.	345;345;54	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	T	54;345;54;54;54;54;54;54	ENSP00000426835:A54T;ENSP00000348732:A345T;ENSP00000422330:A54T;ENSP00000421713:A54T;ENSP00000227065:A54T;ENSP00000427155:A54T;ENSP00000424380:A54T;ENSP00000374005:A54T	ENSP00000227065:A54T	A	+	1	0	FAM149A	187311866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	0.076000	0.16826	-0.918000	0.02743	GCA		0.507	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		6	878	0	0	0	1	0	6	878				
ZNF57	126295	broad.mit.edu	37	19	2917842	2917842	+	Missense_Mutation	SNP	G	G	A	rs149690257	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:2917842G>A	ENST00000306908.5	+	4	1371	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCATTCCGAGGTCATTTG	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		22693	0.0		0.0	False		,,,				2504	0.002				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1222-1224)cGa>cAa		zinc finger protein 57							95.0	86.0	89.0					19																	2917842		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917842G>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1223G>A	19.37:g.2917842G>A	ENSP00000303696:p.Arg408Gln					ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q|AC006277.2_ENST00000520090.2_RNA	p.R408Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1371	+			408					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1223G>A	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	2.637	-0.285137	0.05605	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.04275	3.66;3.66	2.25	-4.5	0.03493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.05050	-0.12	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47368	-0.9123	9	0.20046	T	0.44	.	5.4761	0.16695	0.2484:0.0:0.5675:0.1841	.	408	Q68EA5	ZNF57_HUMAN	Q	408;410;376	ENSP00000303696:R408Q;ENSP00000430223:R376Q	ENSP00000303696:R408Q	R	+	2	0	ZNF57	2868842	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.935000	0.01550	-1.296000	0.02353	-0.514000	0.04452	CGA		0.428	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		6	545	0	0	0	1	0	6	545				
RBL2	5934	broad.mit.edu	37	16	53524146	53524146	+	Silent	SNP	C	C	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:53524146C>T	ENST00000262133.6	+	22	3491	c.3354C>T	c.(3352-3354)tgC>tgT	p.C1118C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C497C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1118					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAAGAATTTGCCCAGAAAATC	0.388																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3352-3354)tgC>tgT		retinoblastoma-like 2 (p130)							105.0	104.0	104.0					16																	53524146		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53524146C>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3354C>T	16.37:g.53524146C>T						RBL2_ENST00000544545.1_Silent_p.C497C|RBL2_ENST00000379935.4_3'UTR	p.C1118C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			22	3491	+			1118					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.3354C>T	CCDS10748.1																																																																																				0.388	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		5	425	0	0	0	1	0	5	425				
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	T	C	rs111563615		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:39316570T>C	ENST00000390661.3	-	1	413	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(373-375)tAc>tGc		keratin associated protein 4-4							41.0	49.0	46.0					17																	39316570		2202	4297	6499	SO:0001583	missense	84616					keratin filament		g.chr17:39316570T>C	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.374A>G	17.37:g.39316570T>C	ENSP00000375076:p.Tyr125Cys						p.Y125C	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	413	-		Breast(137;0.000496)	125			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.374A>G	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	0.686	-0.796392	0.02862	.	.	ENSG00000171396	ENST00000390661	T	0.00686	5.85	5.48	3.47	0.39725	.	1.549040	0.04692	U	0.414286	T	0.00241	0.0007	N	0.00020	-2.77	0.21627	N	0.999613	B	0.02656	0.0	B	0.04013	0.001	T	0.44159	-0.9346	10	0.02654	T	1	.	8.5299	0.33329	0.1529:0.7654:0.0:0.0817	.	125	Q9BYR3	KRA44_HUMAN	C	125	ENSP00000375076:Y125C	ENSP00000375076:Y125C	Y	-	2	0	KRTAP4-4	36570096	0.999000	0.42202	0.003000	0.11579	0.023000	0.10783	0.629000	0.24538	0.672000	0.31204	-0.137000	0.14449	TAC		0.667	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			10	401	0	0	0	1	0	10	401				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		11	374	0	0	0	1	0	11	374				
MAP3K12	7786	broad.mit.edu	37	12	53875859	53875859	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:53875859G>A	ENST00000267079.2	-	14	2572	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R816W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R816W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	783					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCATCTGGCCGCTCATCAGTG	0.577											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2347-2349)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 12							159.0	139.0	146.0					12																	53875859		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53875859G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2347C>T	12.37:g.53875859G>A	ENSP00000267079:p.Arg783Trp		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R816W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R816W	p.R783W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			14	2572	-			783					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2347C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842214	0.71488	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.14640	2.49;2.49;2.49	4.37	3.45	0.39498	.	0.000000	0.41097	D	0.000956	T	0.26991	0.0661	L	0.40543	1.245	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	T	0.02059	-1.1221	10	0.59425	D	0.04	.	13.2901	0.60267	0.0:0.0:0.8396:0.1604	.	816;783	G3V1Y2;Q12852	.;M3K12_HUMAN	W	783;816;816	ENSP00000267079:R783W;ENSP00000449038:R816W;ENSP00000448689:R816W	ENSP00000267079:R783W	R	-	1	2	MAP3K12	52162126	0.872000	0.30054	1.000000	0.80357	0.984000	0.73092	2.006000	0.40874	1.387000	0.46486	0.491000	0.48974	CGG		0.577	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		5	583	0	0	0	1	0	5	583				
LRCH1	23143	broad.mit.edu	37	13	47315978	47315978	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:47315978G>A	ENST00000389798.3	+	19	2379	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T	LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	728										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTCTGTCCGCATAATGTCT	0.502																																						ENST00000389798.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2182-2184)Gca>Aca		leucine-rich repeats and calponin homology (CH) domain containing 1							181.0	181.0	181.0					13																	47315978		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47315978G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2182G>A	13.37:g.47315978G>A	ENSP00000374448:p.Ala728Thr					LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	p.A728T	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2379	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	728					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.2182G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716906	0.68844	.	.	ENSG00000136141	ENST00000389798;ENST00000389797	T;T	0.56611	0.52;0.45	5.62	0.916	0.19373	.	0.366355	0.23049	N	0.052519	T	0.27967	0.0689	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.18555	-1.0333	10	0.87932	D	0	-7.3087	6.6356	0.22881	0.2679:0.1182:0.6139:0.0	.	763;728	F8W6F0;Q9Y2L9	.;LRCH1_HUMAN	T	728;763	ENSP00000374448:A728T;ENSP00000374447:A763T	ENSP00000374447:A763T	A	+	1	0	LRCH1	46213979	0.006000	0.16342	0.000000	0.03702	0.900000	0.52787	0.371000	0.20450	-0.072000	0.12864	-0.145000	0.13849	GCA		0.502	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		6	872	0	0	0	1	0	6	872				
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		8	756						8	756	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		11	437						11	437	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	461						8	461	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		10	332						10	332	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	324						8	324	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115469133	115469134	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:115469133_115469134insA	ENST00000369522.3	+	23	2115_2116	c.1875_1876insA	c.(1876-1878)aaafs	p.K626fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K626fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	626					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAGGCCTTGAAAAAAAAAGG	0.267																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1873-1878)ttaaaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115469133_115469134insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1884dupA	1.37:g.115469142_115469142dupA	ENSP00000358535:p.Lys626fs					SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.LK625fs	p.LK625fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	23	2115_2116	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	625					O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.1875_1876insA	CCDS879.1																																																																																				0.267	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		8	185						8	185	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2895)agaaaafs	p.RK964fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.RK964fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2890-2892)aaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115537600_115537601insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2901dupA	1.37:g.115537610_115537610dupA	ENSP00000358535:p.Arg964fs					SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR	p.K964fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	3131_3132	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	964			Arg/Lys-rich (basic).		O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.2891_2892insA	CCDS879.1																																																																																				0.356	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		18	352						18	352	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			0							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			10	425						10	425	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142720897	142720898	+	lincRNA	INS	-	-	A	rs112730110|rs374883772	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:142720897_142720898insA	ENST00000610091.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													|||unknown(NO_COVERAGE)	2342	0.467652	0.2436	0.7118	5008	,	,		10169	0.4038		0.666	False		,,,				2504	0.4591					ENST00000595144.1																			0																																																			0							g.chr1:142720897_142720898insA																													1.37:g.142720899_142720899dupA														0	204_205	-									RNA	INS	ENST00000610091.1	37																																																																																						0.277	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			14	137						14	137	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		7	374						7	374	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		7	1168						7	1168	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	1283						11	1283	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681680	152681681	+	In_Frame_Ins	INS	-	-	AGCTCTGGGGGCTGCTGT	rs6143428|rs11269814|rs200890315|rs33921874	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr1:152681680_152681681insAGCTCTGGGGGCTGCTGT	ENST00000368777.1	+	2	385_386	c.129_130insAGCTCTGGGGGCTGCTGT	c.(130-132)agc>AGCTCTGGGGGCTGCTGTagc	p.44_44S>SSGGCCS	LCE4A_ENST00000335535.3_In_Frame_Ins_p.44_44S>SSGGCCS			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	44	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			GCTGTGGCTCCAGCTCTGGGGG	0.599														4009	0.800519	0.9758	0.853	5008	,	,		18534	0.6855		0.7177	False		,,,				2504	0.7301					ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(127-132)tcgctc>tcAGCTCTGGGGGCTGCTGTgctc		late cornified envelope 4A																																				SO:0001652	inframe_insertion	199834				keratinization			g.chr1:152681680_152681681insAGCTCTGGGGGCTGCTGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681680_152681681insAGCTCTGGGGGCTGCTGT	Exception_encountered					LCE4A_ENST00000335535.3_In_Frame_Ins_p.43_44SL>SALGAAVL	p.43_44SL>SALGAAVL			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	385_386	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		43			Cys-rich.		Q14D97	In_Frame_Ins	INS	ENST00000368777.1	37	c.129_130insAGCTCTGGGGGCTGCTGT	CCDS1022.1																																																																																				0.599	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		7	626						7	626	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1228-1230)tafs		structural maintenance of chromosomes 6							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs	p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			14	1497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		13	329						13	329	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		8	443						8	443	---	---	---	---
HS1BP3	64342	broad.mit.edu	37	2	20840864	20840864	+	Frame_Shift_Del	DEL	G	G	-	rs77941615	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:20840864delG	ENST00000304031.3	-	3	300	c.275delC	c.(274-276)ccafs	p.P92fs	HS1BP3_ENST00000402541.1_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGTAGTGGGGGGAGGCT	0.537																																						ENST00000402541.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(274-276)cafs		HCLS1 binding protein 3							162.0	164.0	164.0					2																	20840864		2203	4300	6503	SO:0001589	frameshift_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840864delG		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.275delC	2.37:g.20840864delG	ENSP00000305193:p.Pro92fs					HS1BP3_ENST00000304031.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs	p.P92fs			Q53T59	H1BP3_HUMAN			3	289	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		92			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Frame_Shift_Del	DEL	ENST00000304031.3	37	c.275delC	CCDS1700.1																																																																																				0.537	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		8	1270						8	1270	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			8	481						8	481	---	---	---	---
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:96809973delA	ENST00000288943.4	-	3	735	c.650delT	c.(649-651)ttcfs	p.F217fs	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	217					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602																																						ENST00000288943.4																			0				NS(1)|breast(1)|lung(2)|skin(1)	5						c.(649-651)tcfs		dual specificity phosphatase 2							87.0	80.0	83.0					2																	96809973		2203	4300	6503	SO:0001589	frameshift_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809973delA	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.650delT	2.37:g.96809973delA	ENSP00000288943:p.Phe217fs						p.F217fs	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN			3	735	-		Ovarian(717;0.0228)	217					Q53T45	Frame_Shift_Del	DEL	ENST00000288943.4	37	c.650delT	CCDS2016.1																																																																																				0.602	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		7	642						7	642	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		11	267						11	267	---	---	---	---
IFIH1	64135	broad.mit.edu	37	2	163134715	163134716	+	Splice_Site	INS	-	-	T	rs150760072|rs553669430	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:163134715_163134716insT	ENST00000263642.2	-	9	2159_2160	c.1764_1765insA	c.(1762-1767)aaagct>aaaAgct	p.A589fs		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	589					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	8	0.00159744	0.0061	0.0	5008	,	,		18131	0.0		0.0	False		,,,				2504	0.0					ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.e9+1		interferon induced with helicase C domain 1				25,4239		0,25,2107						5.7	1.0			121	5,8247		0,5,4121	no	frameshift-near-splice	IFIH1	NM_022168.2		0,30,6228	A1A1,A1R,RR		0.0606,0.5863,0.2397				30,12486				SO:0001630	splice_region_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134715_163134716insT	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1765+1->A	2.37:g.163134723_163134723dupT							p.NC588_splice	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			9	2159_2160	-			588					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Splice_Site	INS	ENST00000263642.2	37	c.1765_splice	CCDS2217.1																																																																																				0.327	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	Frame_Shift_Ins	7	485						7	485	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			8	362						8	362	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218847717	218847717	+	RNA	DEL	C	C	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr2:218847717delC	ENST00000450996.1	+	0	138																											CCCCCCACCACCAATGCCACC	0.512																																						ENST00000450996.1																			0																																																			0							g.chr2:218847717delC																													2.37:g.218847717delC														0	138	+									RNA	DEL	ENST00000450996.1	37																																																																																						0.512	AC010136.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000339225.1			2	4						2	4	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		11	1636						11	1636	---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121573658	121573659	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:121573658_121573659insA	ENST00000273668.2	+	3	397_398	c.326_327insA	c.(325-330)gtaaaafs	p.VK109fs	EAF2_ENST00000451944.2_Frame_Shift_Ins_p.VK109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	109					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	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 positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACAA	0.248																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(325-327)gaafs		ELL associated factor 2																																				SO:0001589	frameshift_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121573658_121573659insA	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.334dupA	3.37:g.121573666_121573666dupA	ENSP00000273668:p.Val109fs					EAF2_ENST00000451944.2_Frame_Shift_Ins_p.E109fs	p.E109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	3	397_398	+			109					Q9NZ82	Frame_Shift_Ins	INS	ENST00000273668.2	37	c.326_327insA	CCDS3006.1																																																																																				0.248	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		7	621						7	621	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869089	122869089	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:122869089delC	ENST00000316218.7	+	14	1246	c.1151delC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGCCCTGAGGCCCCCCCGCCC	0.602																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)gcfs		protein disulfide isomerase family A, member 5							47.0	53.0	51.0					3																	122869089		2203	4300	6503	SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869089delC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1151delC	3.37:g.122869089delC	ENSP00000323313:p.Ala384fs					PDIA5_ENST00000467157.1_3'UTR	p.A384fs	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Del	DEL	ENST00000316218.7	37	c.1151delC	CCDS3020.1																																																																																				0.602	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		8	539						8	539	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		10	477						10	477	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			8	27						8	27	---	---	---	---
LOC105374244	105374244	broad.mit.edu	37	3	182220015	182220016	+	lincRNA	DEL	AG	AG	-	rs145470011		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr3:182220015_182220016delAG	ENST00000489016.1	-	0	461																											agggacagacagagagagagag	0.47																																						ENST00000489016.1																			0																																																			0							g.chr3:182220015_182220016delAG																													3.37:g.182220025_182220026delAG														0	461	-									RNA	DEL	ENST00000489016.1	37																																																																																						0.470	RP11-139K4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000350614.1			2	4						2	4	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		7	343						7	343	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88986558	88986559	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:88986558_88986559insA	ENST00000508588.1	+	6	800_801	c.405_406insA	c.(406-408)aaafs	p.K136fs	PKD2_ENST00000502363.1_Frame_Shift_Ins_p.K136fs|PKD2_ENST00000237596.2_Frame_Shift_Ins_p.K718fs|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	388					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AACTAAAACTGAAAAAAAATAC	0.386																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36	GRCh37	CD972408	PKD2	D		c.(2149-2154)ctaaaafs		polycystic kidney disease 2 (autosomal dominant)																																				SO:0001589	frameshift_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986558_88986559insA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.413dupA	4.37:g.88986566_88986566dupA	ENSP00000427131:p.Lys136fs					PKD2_ENST00000508588.1_Frame_Shift_Ins_p.LK135fs|PKD2_ENST00000502363.1_Frame_Shift_Ins_p.LK135fs|PKD2_ENST00000511337.1_3'UTR	p.LK717fs	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2217_2218	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	717			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Ins	INS	ENST00000508588.1	37	c.2151_2152insA																																																																																					0.386	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		8	573						8	573	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		17	510						17	510	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889776	889777	+	Intron	INS	-	-	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:889776_889777insA	ENST00000467963.1	-	4	567				BRD9_ENST00000323510.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000494422.1_5'Flank|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000483173.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAATT	0.446																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(37-39)tctfs		bromodomain containing 9			,	2,4262		0,2,2130					,	-1.5	0.0			96	1,8253		0,1,4126	no	intron,intron	BRD9	NM_023924.4,NM_001009877.2	,	0,3,6256	A1A1,A1R,RR		0.0121,0.0469,0.024	,	,		3,12515				SO:0001627	intron_variant	65980						nucleic acid binding	g.chr5:889776_889777insA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-14->T	5.37:g.889785_889785dupA						BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs	p.S13fs			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		1	37_38	-			0					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Frame_Shift_Ins	INS	ENST00000467963.1	37	c.38_39insT	CCDS34127.2																																																																																				0.446	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		7	365						7	365	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		10	1474						10	1474	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		11	513						11	513	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79041149	79041151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:79041149_79041151delGAA	ENST00000446378.2	+	4	10870_10872	c.10839_10841delGAA	c.(10837-10842)gtgaag>gtg	p.K3617del		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3617	B-box coiled-coil; BBC.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGAGGAAGTGAAGAAGAAGAAG	0.448																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(10837-10842)gtg>gt		cardiomyopathy associated 5																																				SO:0001651	inframe_deletion	202333					perinuclear region of cytoplasm		g.chr5:79041149_79041151delGAA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10839_10841delGAA	5.37:g.79041158_79041160delGAA	ENSP00000394770:p.Lys3617del						p.VK3613del	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	4	10870_10872	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3613			B-box coiled-coil; BBC.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	In_Frame_Del	DEL	ENST00000446378.2	37	c.10839_10841delGAA	CCDS47238.1																																																																																				0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		8	295						8	295	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	462						8	462	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		7	500						7	500	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-	rs368201041		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			10	620						10	620	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30571900	30571900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:30571900delG	ENST00000376511.2	-	14	1945	c.1393delC	c.(1393-1395)cggfs	p.R465fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	465	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ACCAGGGGCCGGGGGCACACC	0.582																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1393-1395)ggfs		protein phosphatase 1, regulatory subunit 10							109.0	121.0	117.0					6																	30571900		2203	4300	6503	SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571900delG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1393delC	6.37:g.30571900delG	ENSP00000365694:p.Arg465fs						p.R465fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			14	1945	-			465			Interaction with WDR82 (By similarity).		O00405	Frame_Shift_Del	DEL	ENST00000376511.2	37	c.1393delC	CCDS4681.1																																																																																				0.582	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	1201						7	1201	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				7	877						7	877	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		10	171						10	171	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64394097	64394097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:64394097delA	ENST00000262043.3	+	4	814	c.474delA	c.(472-474)acafs	p.T158fs	PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs			Q92576	PHF3_HUMAN	PHD finger protein 3	158					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTAACACAAAAAAAGCAT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(472-474)acfs		PHD finger protein 3							158.0	168.0	165.0					6																	64394097		2203	4300	6503	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394097delA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.474delA	6.37:g.64394097delA	ENSP00000262043:p.Thr158fs					PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs	p.T158fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	814	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		158					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.474delA	CCDS4966.1																																																																																				0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			7	1074						7	1074	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttcttg>ttg	p.F264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.F289del	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTTTGGAGCAAGAAGAAGAAGA	0.517																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(790-795)ttg>tt		gamma-aminobutyric acid (GABA) A receptor, rho 2																																				SO:0001651	inframe_deletion	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975427_89975429delAAG		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.792_794delCTT	6.37:g.89975436_89975438delAAG	ENSP00000386029:p.Phe264del					GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del	p.FL264del			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	925_927	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	289					A2BDE4|Q9H153	In_Frame_Del	DEL	ENST00000402938.3	37	c.792_794delCTT	CCDS5020.3																																																																																				0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			8	359						8	359	---	---	---	---
WISP3	8838	broad.mit.edu	37	6	112389434	112389434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:112389434delA	ENST00000368666.2	+	4	902	c.616delA	c.(616-618)aaafs	p.K208fs	WISP3_ENST00000361714.1_Frame_Shift_Del_p.K226fs|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs|WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000409166.1_5'UTR	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	208	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ACTTATTTGGAAAAAAAAATG	0.333																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(670-672)aafs		WNT1 inducible signaling pathway protein 3			,	45,4219		4,37,2091	45.0	45.0	45.0		,	5.8	1.0	6		46	70,8180		10,50,4065	no	frameshift,frameshift	WISP3	NM_198239.1,NM_003880.3	,	14,87,6156	A1A1,A1R,RR		0.8485,1.0553,0.919	,	,	112389434	115,12399	2203	4298	6501	SO:0001589	frameshift_variant	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112389434delA	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.616delA	6.37:g.112389434delA	ENSP00000357655:p.Lys208fs					WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs	p.K226fs			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	4	715	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	208			TSP type-1.		Q3KR29|Q5H8W4|Q6UXH6	Frame_Shift_Del	DEL	ENST00000368666.2	37	c.670delA	CCDS5098.1																																																																																				0.333	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		9	271						9	271	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr6:127804080delT	ENST00000525778.1	-	5	2280	c.1535delA	c.(1534-1536)aagfs	p.K512fs	SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000556132.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	512					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGTTGAGCCTTTTTTTCAGA	0.294																																						ENST00000556132.1																			0											c.(1534-1536)agfs		SOGA family member 3							133.0	121.0	125.0					6																	127804080		1790	4063	5853	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127804080delT	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1535delA	6.37:g.127804080delT	ENSP00000434570:p.Lys512fs					SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs	p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			5	2399	-			512						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1535delA	CCDS43505.1																																																																																				0.294	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		10	827						10	827	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs					AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs	p.R3747fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	1173						8	1173	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-	rs373297831		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	291	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-876)ccc>cc		Wiskott-Aldrich syndrome-like				46,4176		1,44,2066						-10.8	0.0			50	62,8114		0,62,4026	no	coding	WASL	NM_003941.2		1,106,6092	A1A1,A1R,RR		0.7583,1.0895,0.8711				108,12290				SO:0001651	inframe_deletion	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332873_123332875delGGA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.873_875delTCC	7.37:g.123332882_123332884delGGA	ENSP00000223023:p.Pro294del						p.PP293del	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1205_1207	-			293			Pro-rich.		A1JUI9|Q7Z746	In_Frame_Del	DEL	ENST00000223023.4	37	c.873_875delTCC	CCDS34743.1																																																																																				0.567	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		8	480						8	480	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	880						11	880	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	1222						7	1222	---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104439486	104439487	+	Frame_Shift_Ins	INS	-	-	T	rs566617241|rs368195456|rs531567041|rs546695543	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr8:104439486_104439487insT	ENST00000521971.1	+	4	590_591	c.510_511insT	c.(511-513)tttfs	p.F171fs	DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.F207fs|DCAF13_ENST00000521999.1_Intron			Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	211					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGAGGTAATGTTTTTTTTTAA	0.277													TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion	12	0.00239617	0.0083	0.0	5008	,	,		16529	0.0		0.0	False		,,,				2504	0.001					ENST00000521971.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(508-513)atttttfs		DDB1 and CUL4 associated factor 13																																				SO:0001589	frameshift_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104439486_104439487insT	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000521971.1:c.519dupT	8.37:g.104439495_104439495dupT	ENSP00000430883:p.Phe171fs					DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.IF206fs|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000297579.5_Intron	p.IF170fs			Q9NV06	DCA13_HUMAN			4	590_591	+			0					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Frame_Shift_Ins	INS	ENST00000521971.1	37	c.510_511insT																																																																																					0.277	DCAF13-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000380799.2	NM_015420		8	235						8	235	---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125597329	125597329	+	Splice_Site	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr8:125597329delT	ENST00000518547.1	-	6	932	c.459delA	c.(457-459)aaa>aa	p.K153fs	MTSS1_ENST00000378017.3_Splice_Site_p.K153fs|MTSS1_ENST00000325064.5_Splice_Site_p.K153fs|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	153	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGAGTTACCTTTTTTTGCTT	0.373																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.e6+1		metastasis suppressor 1							263.0	239.0	247.0					8																	125597329		2203	4300	6503	SO:0001630	splice_region_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125597329delT	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.460+1A>-	8.37:g.125597329delT						MTSS1_ENST00000378017.3_Splice_Site_p.K153_splice|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.K153_splice	p.K153_splice	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	932	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		153	K -> KVDTL (in Ref. 2; AK027015).		IMD.		J3KNK6|Q8TCA2|Q96RX2	Splice_Site	DEL	ENST00000518547.1	37	c.460_splice	CCDS6353.1																																																																																				0.373	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Frame_Shift_Del	7	726						7	726	---	---	---	---
SLC46A2	57864	broad.mit.edu	37	9	115652769	115652769	+	Frame_Shift_Del	DEL	C	C	-	rs563407701		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr9:115652769delC	ENST00000374228.4	-	1	424	c.193delG	c.(193-195)gctfs	p.A65fs		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	65					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCCTCTAGAGCCCCCCGGGGC	0.627																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(193-195)ctfs		solute carrier family 46, member 2							95.0	100.0	98.0					9																	115652769		2203	4300	6503	SO:0001589	frameshift_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652769delC	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.193delG	9.37:g.115652769delC	ENSP00000363345:p.Ala65fs						p.A65fs	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			1	424	-			65					B1ALK1|Q86VT0|Q96NE2	Frame_Shift_Del	DEL	ENST00000374228.4	37	c.193delG	CCDS6786.1																																																																																				0.627	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		7	798						7	798	---	---	---	---
SLC16A9	220963	broad.mit.edu	37	10	61414180	61414180	+	Frame_Shift_Del	DEL	T	T	-	rs548227657		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:61414180delT	ENST00000395348.3	-	5	1240	c.604delA	c.(604-606)atafs	p.I202fs	SLC16A9_ENST00000395347.1_Frame_Shift_Del_p.I202fs	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	202					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TCTGGAGCTATTTTTTTAGGC	0.378																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(604-606)tafs		solute carrier family 16, member 9							104.0	110.0	108.0					10																	61414180		2203	4300	6503	SO:0001589	frameshift_variant	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61414180delT	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.604delA	10.37:g.61414180delT	ENSP00000378757:p.Ile202fs					SLC16A9_ENST00000395347.1_Frame_Shift_Del_p.I202fs	p.I202fs	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			5	1240	-			202					Q6ZMI2|Q9UFH8	Frame_Shift_Del	DEL	ENST00000395348.3	37	c.604delA	CCDS7256.1																																																																																				0.378	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		7	746						7	746	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:61828745_61828747delGTG	ENST00000280772.2	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11890-11895)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828745_61828747delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11892_11894delCAC	10.37:g.61828754_61828756delGTG	ENSP00000280772:p.Thr3965del					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.TT3964del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12083_12085	-			3964			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11892_11894delCAC	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		8	629						8	629	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(43-45)del		stearoyl-CoA desaturase (delta-9-desaturase)																																				SO:0001651	inframe_deletion	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107836_102107838delACC	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del						p.T19del	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	424_426	+		Colorectal(252;0.0323)	19					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	ENST00000370355.2	37	c.43_45delACC	CCDS7493.1																																																																																				0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		7	802						7	802	---	---	---	---
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132.0	134.0	134.0					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		7	692						7	692	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.660	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	467						7	467	---	---	---	---
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:72528863_72528865delAGG	ENST00000321297.5	+	3	419_421	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_ENST00000534905.1_In_Frame_Del_p.E98del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	98					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(280-285)cag>c		autophagy related 16-like 2 (S. cerevisiae)																																				SO:0001651	inframe_deletion	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528863_72528865delAGG	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.281_283delAGG	11.37:g.72528872_72528874delAGG	ENSP00000326340:p.Glu98del					ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del	p.QE94del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	419_421	+			94					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	In_Frame_Del	DEL	ENST00000321297.5	37	c.281_283delAGG	CCDS31634.1																																																																																				0.591	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		7	197						7	197	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407177delC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407177delC										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		7	180						7	180	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		16	1107						16	1107	---	---	---	---
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	lincRNA	INS	-	-	TCTTCCTCCTCC	rs71045240|rs71265059		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1				long intergenic non-protein coding RNA 987																		caccatcaccttcttcctcccc	0.545														354	0.0706869	0.0272	0.1455	5008	,	,		14189	0.0813		0.0706	False		,,,				2504	0.0654					ENST00000427111.3																			0																																																			0							g.chr12:9392739_9392740insTCTTCCTCCTCC	AK126248		12p13.31	2013-07-04			ENSG00000237248	ENSG00000237248		"""Long non-coding RNAs"""	48911	non-coding RNA	RNA, long non-coding							Standard	NR_036466		Approved				OTTHUMG00000168332		12.37:g.9392739_9392740insTCTTCCTCCTCC								NR_036466.1						0	141_142	+									RNA	INS	ENST00000427111.3	37																																																																																						0.545	LINC00987-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399347.1			8	116						8	116	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	411						7	411	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			9	987						9	987	---	---	---	---
GOLGA2P5	55592	broad.mit.edu	37	12	100551828	100551830	+	RNA	DEL	CCT	CCT	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:100551828_100551830delCCT	ENST00000397112.4	-	0	1625_1627				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGCTGAGGCACCTCCTCCTCCTC	0.635																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100551828_100551830delCCT																													12.37:g.100551837_100551839delCCT								NR_036632.1						0	1625_1627	-								Q9NSV2	RNA	DEL	ENST00000397112.4	37																																																																																						0.635	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			7	134						7	134	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113565943	113565943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:113565943delC	ENST00000261729.5	-	4	478	c.163delG	c.(163-165)gagfs	p.E56fs	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000546530.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	56	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTACTCCTCCCCCCAGAAG	0.617																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)agfs		RAS protein activator like 1 (GAP1 like)							182.0	182.0	182.0					12																	113565943		2203	4300	6503	SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565943delC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.163delG	12.37:g.113565943delC	ENSP00000261729:p.Glu56fs					RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs	p.E56fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			4	448	-			56			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Del	DEL	ENST00000261729.5	37	c.163delG	CCDS9165.1																																																																																				0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		7	1483						7	1483	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000535720.1_RNA|RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		11	842						11	842	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		10	354						10	354	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:23912864delT	ENST00000382292.3	-	9	5424	c.5151delA	c.(5149-5151)aaafs	p.K1717fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.K1717fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1717					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAGCAGGATTTTTTTTTAA	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5149-5151)aafs		spastic ataxia of Charlevoix-Saguenay (sacsin)							40.0	42.0	42.0					13																	23912864		2202	4299	6501	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912864delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5151delA	13.37:g.23912864delT	ENSP00000371729:p.Lys1717fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs	p.K1717fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5739	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1717					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.5151delA	CCDS9300.2																																																																																				0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	316						10	316	---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34398063	34398063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:34398063delA	ENST00000380071.3	+	3	365	c.235delA	c.(235-237)aaafs	p.K81fs	RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	81					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|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)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTCCATCTAAAAAAAAAAT	0.269																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(235-237)aafs		replication factor C (activator 1) 3, 38kDa			,	108,4134		12,84,2025	27.0	30.0	29.0		,	1.9	1.0	13		30	256,7956		39,178,3889	no	frameshift,frameshift	RFC3	NM_181558.2,NM_002915.3	,	51,262,5914	A1A1,A1R,RR		3.1174,2.546,2.9228	,	,	34398063	364,12090	2195	4285	6480	SO:0001589	frameshift_variant	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|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.chr13:34398063delA		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.235delA	13.37:g.34398063delA	ENSP00000369411:p.Lys81fs					RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	3	365	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	81					C9JU95|O15252|Q5W0E8	Frame_Shift_Del	DEL	ENST00000380071.3	37	c.235delA	CCDS9352.1																																																																																				0.269	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		14	283						14	283	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	426						7	426	---	---	---	---
APEX1	328	broad.mit.edu	37	14	20925506	20925506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:20925506delT	ENST00000216714.3	+	5	1064	c.796delT	c.(796-798)tttfs	p.F266fs	APEX1_ENST00000398030.4_Frame_Shift_Del_p.F266fs|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Frame_Shift_Del_p.F266fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	266					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGCCTACACCTTTTGGACTTA	0.502								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(796-798)ttfs	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						227.0	195.0	206.0					14																	20925506		2203	4300	6503	SO:0001589	frameshift_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925506delT	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.796delT	14.37:g.20925506delT	ENSP00000216714:p.Phe266fs					APEX1_ENST00000398030.4_Frame_Shift_Del_p.F266fs|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000555414.1_Frame_Shift_Del_p.F266fs	p.F266fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1064	+	all_cancers(95;0.00123)	all_lung(585;0.235)	266					Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	c.796delT	CCDS9550.1																																																																																				0.502	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		7	834						7	834	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-	rs113881459|rs569568436		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		7	540						7	540	---	---	---	---
PCK2	5106	broad.mit.edu	37	14	24572757	24572757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:24572757delT	ENST00000216780.4	+	10	1775	c.1507delT	c.(1507-1509)tttfs	p.F504fs	PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Frame_Shift_Del_p.F338fs|PCK2_ENST00000545054.2_Frame_Shift_Del_p.F370fs|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Frame_Shift_Del_p.F370fs	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	504					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CATGCGGCCCTTTTTTGGCTA	0.577																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1105-1107)ttfs		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							76.0	76.0	76.0					14																	24572757		2203	4300	6503	SO:0001589	frameshift_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572757delT	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1507delT	14.37:g.24572757delT	ENSP00000216780:p.Phe504fs					PCK2_ENST00000559250.1_Intron|PCK2_ENST00000216780.4_Frame_Shift_Del_p.F504fs|PCK2_ENST00000561286.1_Frame_Shift_Del_p.F370fs|PCK2_ENST00000558096.1_Frame_Shift_Del_p.F338fs|NRL_ENST00000561028.1_Intron	p.F370fs			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	2023	+			504					O43253|Q86U01|Q9BV62	Frame_Shift_Del	DEL	ENST00000216780.4	37	c.1105delT	CCDS9609.1																																																																																				0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		7	588						7	588	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36194270	36194270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:36194270delT	ENST00000389698.3	-	14	2216	c.1826delA	c.(1825-1827)aatfs	p.N609fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	609					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGGTCATATTTTTTTTCCC	0.378																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1825-1827)atfs		Ral GTPase activating protein, alpha subunit 1 (catalytic)							56.0	58.0	58.0					14																	36194270		2203	4300	6503	SO:0001589	frameshift_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36194270delT	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1826delA	14.37:g.36194270delT	ENSP00000374348:p.Asn609fs					RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs	p.N609fs			Q6GYQ0	RGPA1_HUMAN			14	2216	-			609					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	c.1826delA	CCDS32065.1																																																																																				0.378	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		9	702						9	702	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		10	384						10	384	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		11	1166						11	1166	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25324325	25324325	+	RNA	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:25324325delT	ENST00000546682.1	+	0	0				SNHG14_ENST00000549804.2_RNA|SNORD116-13_ENST00000384408.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-15_ENST00000384445.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACAACTGTCATTTTTTTTGAT	0.478																																						ENST00000549804.2																			0																	12,2458		5,2,1228	82.0	80.0	80.0			0.2	0.1	15		82	18,4858		8,2,2428	no	intergenic				13,4,3656	A1A1,A1R,RR		0.3692,0.4858,0.4084			25324325	30,7316	876	1991	2867			0							g.chr15:25324325delT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25324325delT														0	1377	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.478	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			9	399						9	399	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:28200305delT	ENST00000354638.3	-	17	1996	c.1841delA	c.(1840-1842)aag>ag	p.K614fs	OCA2_ENST00000382996.2_Splice_Site_p.K614fs|OCA2_ENST00000353809.5_Splice_Site_p.K590fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2). {ECO:0000269|PubMed:10987646}.|K -> N (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85	GRCh37	CD000269	OCA2	D		c.e17+1		oculocutaneous albinism II							224.0	217.0	219.0					15																	28200305		2203	4300	6503	SO:0001630	splice_region_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28200305delT		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1842+1A>-	15.37:g.28200305delT						OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice	p.K614_splice	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	17	1996	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	614		K -> E (in OCA2).|K -> N (in OCA2).			Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	DEL	ENST00000354638.3	37	c.1842_splice	CCDS10020.1																																																																																				0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Frame_Shift_Del	7	876						7	876	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	475						7	475	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49																																						ENST00000326648.3																			1	Deletion - Frameshift(1)	p.K734fs*12(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2191-2196)gaaaaafs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967246_64967247insA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs						p.EK731fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2321_2322	+			731			Poly-Lys.		Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2193_2194insA	CCDS32270.1																																																																																				0.490	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		11	874						11	874	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72190580	72190580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr15:72190580delA	ENST00000356056.5	-	25	4736	c.4264delT	c.(4264-4266)tatfs	p.Y1422fs	MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1422	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGGGATATAAAAAAAAGTA	0.398																																						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.(4264-4266)atfs		myosin IXA							63.0	64.0	63.0					15																	72190580		2199	4297	6496	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.chr15:72190580delA	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.4264delT	15.37:g.72190580delA	ENSP00000348349:p.Tyr1422fs					MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000563542.1_5'UTR	p.Y1422fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4736	-			1422			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Frame_Shift_Del	DEL	ENST00000356056.5	37	c.4264delT	CCDS10239.1																																																																																				0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		8	440						8	440	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			0							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			11	48						11	48	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	661						8	661	---	---	---	---
LOC653786	653786	broad.mit.edu	37	16	22579763	22579764	+	RNA	DEL	TT	TT	-	rs112473041		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:22579763_22579764delTT	ENST00000550753.1	+	0	1976					NR_003676.2																						tgtgtgtgtgtttgtttgtTTT	0.505																																						ENST00000550753.1																			0																																																			0							g.chr16:22579763_22579764delTT																													16.37:g.22579763_22579764delTT								NR_003676.2						0	1976	+									RNA	DEL	ENST00000550753.1	37																																																																																						0.505	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			9	489						9	489	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32127005	32127005	+	IGR	DEL	C	C	-	rs78871347		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:32127005delC								RP11-1166P10.6 (30899 upstream) : HERC2P4 (54299 downstream)																							GCGGCTTTTTCCCCCCACCGC	0.687																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32127005delC																													16.37:g.32127005delC														0	456	-									RNA	DEL		37																																																																																					0	0.687									3	6						3	6	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		9	711						9	711	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			7	242						7	242	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		10	1733						10	1733	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19232949	19232950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:19232949_19232950insA	ENST00000314728.5	+	9	1884_1885	c.1400_1401insA	c.(1399-1404)tcaaaafs	p.SK467fs	EPN2_ENST00000395620.2_Frame_Shift_Ins_p.SK410fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.SK403fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.SK467fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.SK182fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.SK175fs|EPN2_ENST00000347697.2_Frame_Shift_Ins_p.SK410fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	467	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCGGACTTCAAAAAAAACAG	0.396																																						ENST00000314728.5																			1	Insertion - Frameshift(1)	p.T470fs*19(1)	lung(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1399-1401)taafs		epsin 2																																				SO:0001589	frameshift_variant	22905				endocytosis		lipid binding	g.chr17:19232949_19232950insA	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1408dupA	17.37:g.19232957_19232957dupA	ENSP00000320543:p.Ser467fs					EPN2_ENST00000347697.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.*403fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.*175fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.*182fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.*467fs	p.*467fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			9	1884_1885	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		467			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Frame_Shift_Ins	INS	ENST00000314728.5	37	c.1400_1401insA	CCDS11203.1																																																																																				0.396	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		8	577						8	577	---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:40370236delG	ENST00000293328.3	-	9	1270	c.1102delC	c.(1102-1104)cagfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1102-1104)agfs		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						109.0	87.0	94.0					17																	40370236		2203	4300	6503	SO:0001589	frameshift_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370236delG	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1102delC	17.37:g.40370236delG	ENSP00000293328:p.Gln368fs						p.Q368fs	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1270	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	368					Q8WWS8	Frame_Shift_Del	DEL	ENST00000293328.3	37	c.1102delC	CCDS11423.1																																																																																				0.577	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		9	306						9	306	---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54978862	54978862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:54978862delT	ENST00000316881.4	-	4	1054	c.1005delA	c.(1003-1005)aaafs	p.K335fs	TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	335	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGTGGATGCCTTTTATCAGCT	0.547																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1003-1005)aafs		tripartite motif containing 25							430.0	383.0	399.0					17																	54978862		2203	4300	6503	SO:0001589	frameshift_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54978862delT	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1005delA	17.37:g.54978862delT	ENSP00000323889:p.Lys335fs					TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			4	1054	-	Breast(9;6.15e-08)		335			Interaction with influenza A virus NS1.			Frame_Shift_Del	DEL	ENST00000316881.4	37	c.1005delA	CCDS11591.1																																																																																				0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		7	1992						7	1992	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73732157	73732158	+	Frame_Shift_Del	DEL	GT	GT	-	rs121912463		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr17:73732157_73732158delGT	ENST00000200181.3	+	14	1870_1871	c.1683_1684delGT	c.(1681-1686)cagtgtfs	p.C562fs	ITGB4_ENST00000579662.1_Frame_Shift_Del_p.C562fs|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.C562fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.C562fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.C562fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	562	Cysteine-rich tandem repeats.		C -> R (in EB-PA; mild form). {ECO:0000269|PubMed:9792864}.		amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCATGGGCCAGTGTGTGTGTGA	0.604																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	GRCh37	CM981091	ITGB4	M	rs121912463	c.(1681-1686)cagtfs		integrin, beta 4																																				SO:0001589	frameshift_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73732157_73732158delGT		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1683_1684delGT	17.37:g.73732165_73732166delGT	ENSP00000200181:p.Cys562fs					ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR	p.QC561fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1870_1871	+	all_cancers(13;1.5e-07)		561			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Del	DEL	ENST00000200181.3	37	c.1683_1684delGT	CCDS11727.1																																																																																				0.604	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			9	779						9	779	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			8	120						8	120	---	---	---	---
RP11-595B24.1	0	broad.mit.edu	37	18	19622068	19622068	+	lincRNA	DEL	C	C	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr18:19622068delC	ENST00000584898.1	+	0	39																											ctgaaaggtgccccccaccct	0.443																																						ENST00000584898.1																			0																																																			0							g.chr18:19622068delC																													18.37:g.19622068delC														0	39	+									RNA	DEL	ENST00000584898.1	37																																																																																						0.443	RP11-595B24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446369.1			2	4						2	4	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-	rs553532837	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													GGGGGtGGG|GGGGGGGGG|GGGGGGGG|complex_deletion	5	0.000998403	0.0008	0.0	5008	,	,		12739	0.003		0.001	False		,,,				2504	0.0					ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(490-492)ctfs		DENN/MADD domain containing 1C							20.0	25.0	24.0					19																	6477251		1952	4130	6082	SO:0001589	frameshift_variant	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6477251delG	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.491delC	19.37:g.6477251delG	ENSP00000370889:p.Pro164fs					DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	p.P164fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			8	603	-			164			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Del	DEL	ENST00000381480.2	37	c.491delC	CCDS45938.1																																																																																				0.672	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		11	281						11	281	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9057565	9057565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:9057565delT	ENST00000397910.4	-	3	30084	c.29881delA	c.(29881-29883)agtfs	p.S9962fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9964	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGAACTTTTTTGGGTG	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29881-29883)gtfs		mucin 16, cell surface associated							258.0	250.0	252.0					19																	9057565		1961	4162	6123	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057565delT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29881delA	19.37:g.9057565delT	ENSP00000381008:p.Ser9962fs						p.S9962fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30084	-			9964			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.29881delA	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	1368						8	1368	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		9	46						9	46	---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57646387	57646387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr19:57646387delT	ENST00000269834.1	-	5	1703	c.1318delA	c.(1318-1320)accfs	p.T440fs	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGTATGGGTTTTTTTATGC	0.403																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1318-1320)ccfs		zinc finger, imprinted 3				0,4264		0,0,2132	139.0	142.0	141.0			-4.3	0.0	19		143	1,8253		0,1,4126	no	frameshift	ZIM3	NM_052882.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080			57646387	1,12517	2203	4300	6503	SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646387delT	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1318delA	19.37:g.57646387delT	ENSP00000269834:p.Thr440fs						p.T440fs	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1703	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	440					Q14CA6	Frame_Shift_Del	DEL	ENST00000269834.1	37	c.1318delA	CCDS33125.1																																																																																				0.403	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			7	905						7	905	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000455791.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	557						7	557	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	105						8	105	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	-	T	rs140153728		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr20:61537401_61537402insT	ENST00000266070.4	-	6	1750_1751	c.1425_1426insA	c.(1423-1428)aaagagfs	p.E476fs	DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.E476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	476					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.49																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1423-1428)aaagacfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61537401_61537402insT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1426dupA	20.37:g.61537409_61537409dupT	ENSP00000266070:p.Glu476fs					DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs	p.D476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			6	1750_1751	-	Breast(26;5.68e-08)		476					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.1425_1426insA	CCDS33506.1																																																																																				0.490	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	641						7	641	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661172	22661173	+	RNA	INS	-	-	C	rs377142963|rs7410785|rs60559515	byFrequency	TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chr22:22661172_22661173insC	ENST00000426066.1	+	0	264_265					NR_027293.1				BMS1 pseudogene 20																		CATACAGGTTTTCCCCCCCCAC	0.411																																						ENST00000426066.1																			0																																																			0							g.chr22:22661172_22661173insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661172_22661173insC								NR_027293.1						0	264_265	+									RNA	INS	ENST00000426066.1	37																																																																																						0.411	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	172						7	172	---	---	---	---
FAM155B	27112	broad.mit.edu	37	X	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aaafs	p.K184fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(547-549)aafs		family with sequence similarity 155, member B							42.0	43.0	43.0					X																	68725672		2203	4300	6503	SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725672delA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.547delA	X.37:g.68725672delA	ENSP00000252338:p.Lys184fs						p.K184fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	589	+			184					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Del	DEL	ENST00000252338.4	37	c.547delA	CCDS35317.1																																																																																				0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		7	212						7	212	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		13	356						13	356	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		7	516						7	516	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		7	679						7	679	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		9	278						9	278	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-	rs141900922|rs138660605|rs386828016		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	308				SSS -> PSF (in Ref. 2; AAC24227). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(922-927)agc>ag		melanoma antigen family C, 1				8,3698		0,2,6,1588,520							0.1			130	41,6388		0,12,29,2341,1694	no	coding	MAGEC1	NM_005462.4		0,14,35,3929,2214	A1A1,A1R,A1,RR,R		0.6377,0.2159,0.4835				49,10086				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994114_140994116delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.924_926delCTC	X.37:g.140994123_140994125delCTC	ENSP00000285879:p.Ser313del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS312del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1210_1212	+	Acute lymphoblastic leukemia(192;6.56e-05)		312					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.924_926delCTC	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	1097						7	1097	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	756						8	756	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-	rs377463560		TCGA-3A-A9IJ-01A-11D-A397-08	TCGA-3A-A9IJ-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8bf3938-5f3e-430e-8353-e7d5d41b451b	7f130a3c-8efa-41a2-a092-380ae507db20	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	1107						8	1107	---	---	---	---
